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 ASCL1 429 broad.mit.edu 37 12 103352411 103352411 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr12:103352411G>A ENST00000266744.3 + 1 948 c.389G>A c.(388-390)cGc>cAc p.R130H NM_004316.3 NP_004307.2 P50553 ASCL1_HUMAN achaete-scute family bHLH transcription factor 1 130 cerebral cortex GABAergic interneuron differentiation|negative regulation of apoptosis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|noradrenergic neuron fate commitment|Notch signaling pathway|positive regulation of neuron differentiation|positive regulation of transcription from RNA polymerase II promoter|response to retinoic acid|sympathetic nervous system development nucleus bHLH transcription factor binding|E-box binding|sequence-specific DNA binding transcription factor activity|transcription factor binding transcription factor activity p.R130H(1) NS(3)|large_intestine(1)|lung(1) 5 GAGCGCAACCGCGTCAAGTTG 0.667000 5 31 0 0 1 0 0 BAI1 575 broad.mit.edu 37 8 143602246 143602246 + Missense_Mutation SNP A A G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr8:143602246A>G ENST00000517894.1 + 20 3878 c.2984A>G c.(2983-2985)aAt>aGt p.N995S BAI1_ENST00000323289.5_Missense_Mutation_p.N995S O14514 BAI1_HUMAN brain-specific angiogenesis inhibitor 1 995 axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development cell-cell junction|integral to plasma membrane G-protein coupled receptor activity|protein binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7) 57 all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155) ATCTCCTCCAATGCCCTCATC 0.582000 21 41 0 0 1 0 0 TCEB1 6921 broad.mit.edu 37 8 74868182 74868182 + Missense_Mutation SNP T T A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr8:74868182T>A ENST00000602840.1 - 3 306 c.112A>T c.(112-114)Aca>Tca p.T38S TCEB1_ENST00000284811.8_Missense_Mutation_p.T38S|TCEB1_ENST00000520210.1_Missense_Mutation_p.T22S|TCEB1_ENST00000523815.1_Missense_Mutation_p.T38S|TCEB1_ENST00000520242.1_Missense_Mutation_p.T38S|TCEB1_ENST00000522337.1_Missense_Mutation_p.T38S|TCEB1_ENST00000519487.1_Missense_Mutation_p.T38S|TCEB1_ENST00000518127.1_Missense_Mutation_p.T38S Q15369 ELOC_HUMAN transcription elongation factor B (SIII), polypeptide 1 (15kDa, elongin C) 38 interspecies interaction between organisms|positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|ubiquitin-dependent protein catabolic process|viral reproduction cytosol|nucleoplasm protein binding endometrium(2)|kidney(3)|lung(1)|prostate(1) 7 Breast(64;0.0311) Epithelial(68;0.0136)|all cancers(69;0.0431)|BRCA - Breast invasive adenocarcinoma(89;0.0499) GTGCCTGATGTTAATGCATGT 0.373000 20 30 0 0 1 0 0 ZNF716 441234 broad.mit.edu 37 7 57528838 57528838 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr7:57528838G>A ENST00000420713.1 + 4 783 c.671G>A c.(670-672)tGc>tAc p.C224Y NM_001159279.1 NP_001152751.1 zinc finger protein 716 breast(1)|kidney(1)|lung(20)|ovary(2) 24 TCCTTTAACTGCTCTTCAACC 0.393000 5 13 0 0 1 0 0 CARS 833 broad.mit.edu 37 11 3026597 3026597 + Splice_Site SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:3026597C>T ENST00000397114.3 - 20 2313 c.1938_splice c.e20+1 p.R646_splice CARS_ENST00000278224.9_Splice_Site_p.R656_splice|CARS_ENST00000397111.5_Splice_Site_p.R656_splice|CARS_ENST00000470221.2_5'UTR|CARS_ENST00000401769.3_Splice_Site_p.R669_splice|CARS_ENST00000380525.4_Splice_Site_p.R739_splice P49589 SYCC_HUMAN cysteinyl-tRNA synthetase 656 cysteinyl-tRNA aminoacylation cytoplasm|cytosol ATP binding|cysteine-tRNA ligase activity|metal ion binding|protein homodimerization activity|tRNA binding CARS/ALK(5) central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1) 31 all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681) BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218) L-Cysteine(DB00151) TTTACTCACCCGTCTCTTTTC 0.368000 T ALK ALCL 20 41 0 0 1 0 0 CALHM1 255022 broad.mit.edu 37 10 105218265 105218265 + Missense_Mutation SNP A A T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr10:105218265A>T ENST00000329905.5 - 1 380 c.244T>A c.(244-246)Tgg>Agg p.W82R RP11-225H22.4_ENST00000411906.1_RNA NM_001001412.3 NP_001001412.3 Q8IU99 CAHM1_HUMAN calcium homeostasis modulator 1 82 endoplasmic reticulum membrane|integral to membrane|plasma membrane calcium channel activity|identical protein binding large_intestine(2)|liver(1)|lung(5)|ovary(1) 9 GGCCGCTTCCACTCTTCGGCC 0.657000 20 41 0 0 1 0 0 KIRREL2 84063 broad.mit.edu 37 19 36349430 36349430 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:36349430G>A ENST00000360202.5 + 3 530 c.332G>A c.(331-333)cGc>cAc p.R111H KIRREL2_ENST00000586102.2_Missense_Mutation_p.R111H|KIRREL2_ENST00000262625.7_Missense_Mutation_p.R111H|KIRREL2_ENST00000347900.6_Missense_Mutation_p.R61H|KIRREL2_ENST00000592409.1_Missense_Mutation_p.R111H|NPHS1_ENST00000591817.1_Intron NM_032123.5|NM_199180.2 NP_115499.4|NP_954649.2 Q6UWL6 KIRR2_HUMAN kin of IRRE like 2 (Drosophila) 111 Ig-like C2-type 1. cell adhesion integral to membrane|plasma membrane p.R111H(2) breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 48 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) GCAGGCCTCCGCTCCAGACCA 0.592000 14 89 0 0 1 0 0 GLIS2 84662 broad.mit.edu 37 16 4385070 4385070 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr16:4385070C>T ENST00000262366.3 + 6 1353 c.532C>T c.(532-534)Ctc>Ttc p.L178F PAM16_ENST00000577031.1_Intron|GLIS2_ENST00000433375.1_Missense_Mutation_p.L178F Q9BZE0 GLIS2_HUMAN GLIS family zinc finger 2 178 cell differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development cytoplasm|nuclear speck RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|transcription regulatory region DNA binding|zinc ion binding breast(1)|cervix(4)|endometrium(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1) 11 GTGTAACCAGCTCTTTGAGCT 0.612000 22 76 0 0 1 0 0 ITGAV 3685 broad.mit.edu 37 2 187528564 187528564 + Splice_Site SNP T T C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr2:187528564T>C ENST00000261023.3 + 19 2199 c.e19+2 ITGAV_ENST00000374907.3_Splice_Site|ITGAV_ENST00000433736.2_Splice_Site|AC017101.10_ENST00000453665.1_RNA NM_002210.3 NP_002201.1 P06756 ITAV_HUMAN integrin, alpha V angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance integrin complex receptor activity|transforming growth factor beta binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 47 OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189) STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108) TGTAGATAGGTAAGTTTTGCT 0.313000 10 22 0 0 1 0 0 GALNT2 2590 broad.mit.edu 37 1 230313996 230313996 + Missense_Mutation SNP G G C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:230313996G>C ENST00000366672.4 + 2 231 c.159G>C c.(157-159)aaG>aaC p.K53N GALNT2_ENST00000543760.1_Missense_Mutation_p.K15N|GALNT2_ENST00000541865.1_Intron NM_004481.3 NP_004472.1 Q10471 GALT2_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2) 53 immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2) 32 Breast(184;0.193)|Ovarian(103;0.249) all_cancers(173;0.156)|Prostate(94;0.179) CCATTAAAAAGAAAGACCTTC 0.463000 18 38 0 0 1 0 0 NLRP10 338322 broad.mit.edu 37 11 7981479 7981479 + Silent SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:7981479G>T ENST00000328600.2 - 2 1841 c.1680C>A c.(1678-1680)acC>acA p.T560T NM_176821.3 NP_789791.1 Q86W26 NAL10_HUMAN NLR family, pyrin domain containing 10 560 ATP binding breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) CCAAATCCCAGGTCCTGTTGT 0.368000 6 42 0.0215528 0.0220241 1 1 0 RIMBP2 23504 broad.mit.edu 37 12 130941116 130941116 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr12:130941116G>T ENST00000261655.4 - 4 395 c.232C>A c.(232-234)Ccc>Acc p.P78T RIMBP2_ENST00000536002.1_5'UTR|RIMBP2_ENST00000535703.1_5'UTR NM_015347.4 NP_056162.4 O15034 RIMB2_HUMAN RIMS binding protein 2 78 cell junction|synapse NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 96 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.213) OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05) ATGTCCAGGGGGGCCACCGCG 0.632000 17 26 1.99824e-07 2.35278e-07 1 1 0 SEMA5B 54437 broad.mit.edu 37 3 122645426 122645426 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr3:122645426G>T ENST00000195173.4 - 9 1252 c.949C>A c.(949-951)Cgc>Agc p.R317S SEMA5B_ENST00000451055.2_Missense_Mutation_p.R371S|SEMA5B_ENST00000357599.3_Missense_Mutation_p.R317S Q9P283 SEM5B_HUMAN sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B 317 Sema. cell differentiation|nervous system development integral to membrane receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3) 55 GBM - Glioblastoma multiforme(114;0.0367) CGGGCCACGCGAGAGTACACG 0.602000 16 30 6.72482e-11 8.5752e-11 1 1 0 SPTA1 6708 broad.mit.edu 37 1 158613176 158613176 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:158613176G>T ENST00000368148.3 - 31 4558 c.4378C>A c.(4378-4380)Ctc>Atc p.L1460I SPTA1_ENST00000368147.3_Missense_Mutation_p.L1460I NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 1460 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) TCAGCAATGAGGCTCTCAGCA 0.458000 19 68 3.08376e-08 3.69097e-08 1 1 0 CCDC92 80212 broad.mit.edu 37 12 124428010 124428010 + Missense_Mutation SNP T T C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr12:124428010T>C ENST00000545135.1 - 1 3310 c.14A>G c.(13-15)aAc>aGc p.N5S CCDC92_ENST00000238156.3_Missense_Mutation_p.N22S|CCDC92_ENST00000545891.1_Missense_Mutation_p.N5S|CCDC92_ENST00000544798.1_5'UTR Q53HC0 CCD92_HUMAN coiled-coil domain containing 92 22 large_intestine(5)|lung(2) 7 all_neural(191;0.101)|Medulloblastoma(191;0.163) Epithelial(86;0.0002)|OV - Ovarian serous cystadenocarcinoma(86;0.000222)|all cancers(50;0.00129)|BRCA - Breast invasive adenocarcinoma(302;0.242) GTTCTCCAGGTTTGTGGCTGC 0.627000 60 126 0 0 1 0 0 VDR 7421 broad.mit.edu 37 12 48251338 48251338 + Silent SNP G G A rs144628070 TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr12:48251338G>A ENST00000229022.3 - 6 692 c.411C>T c.(409-411)gaC>gaT p.D137D VDR_ENST00000549336.1_Silent_p.D137D|VDR_ENST00000395324.2_Silent_p.D137D|VDR_ENST00000550325.1_Silent_p.D187D|VDR_ENST00000535672.1_Silent_p.D105D NM_001017535.1 NP_001017535.1 P11473 VDR_HUMAN vitamin D (1,25- dihydroxyvitamin D3) receptor 137 Hinge. decidualization|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of vitamin D 24-hydroxylase activity|regulation of calcidiol 1-monooxygenase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm retinoid X receptor binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|vitamin D3 receptor activity|zinc ion binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(3)|skin(2) 22 Acute lymphoblastic leukemia(13;0.109)|all_hematologic(14;0.214) GBM - Glioblastoma multiforme(48;0.17) Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Dihydrotachysterol(DB01070)|Ergocalciferol(DB00153)|Paricalcitol(DB00910) TATGGTGGGCGTCCAGCAGTA 0.597000 10 93 0 0 1 0 0 ADGRG6 57211 broad.mit.edu 37 6 142725013 142725013 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr6:142725013G>A ENST00000230173.6 + 14 2506 c.2030G>A c.(2029-2031)cGg>cAg p.R677Q GPR126_ENST00000367609.3_Missense_Mutation_p.R677Q|GPR126_ENST00000296932.8_Missense_Mutation_p.R649Q|GPR126_ENST00000367608.2_Missense_Mutation_p.R649Q NM_020455.5 NP_065188.4 Q86SQ4 GP126_HUMAN G protein-coupled receptor 126 677 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 36 Breast(32;0.176) OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121) ATTACAACTCGGAACTTGGCT 0.368000 10 40 0 0 1 0 0 TRAF6 7189 broad.mit.edu 37 11 36511395 36511395 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:36511395C>T ENST00000526995.1 - 7 1808 c.1562G>A c.(1561-1563)gGg>gAg p.G521E TRAF6_ENST00000348124.5_Missense_Mutation_p.G521E NM_004620.3 NP_004611.1 Q9Y4K3 TRAF6_HUMAN TNF receptor-associated factor 6, E3 ubiquitin protein ligase 521 activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|ossification|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell cytokine production|protein autoubiquitination|protein K63-linked ubiquitination|response to interleukin-1|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway CD40 receptor complex|cell cortex|cytosol|endosome membrane|internal side of plasma membrane|nuclear membrane histone deacetylase binding|mitogen-activated protein kinase kinase kinase binding|protein kinase B binding|protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1) 27 all_lung(20;0.211) all_hematologic(20;0.107) AAGCTATACCCCTGCATCAGT 0.488000 23 163 0 0 1 0 0 DCAF4L2 138009 broad.mit.edu 37 8 88885952 88885952 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr8:88885952G>A ENST00000319675.3 - 1 344 c.248C>T c.(247-249)aCt>aTt p.T83I NM_152418.3 NP_689631.1 Q8NA75 DC4L2_HUMAN DDB1 and CUL4 associated factor 4-like 2 83 breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 83 GAGCTGGTCAGTGTTGGTATT 0.547000 36 67 0 0 1 0 0 ETFDH 2110 broad.mit.edu 37 4 159627914 159627914 + Silent SNP G G A rs142475999 byFrequency TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr4:159627914G>A ENST00000511912.1 + 12 1934 c.1602G>A c.(1600-1602)ccG>ccA p.P534P ETFDH_ENST00000307738.5_Silent_p.P487P NM_004453.2 NP_004444.2 Q16134 ETFD_HUMAN electron-transferring-flavoprotein dehydrogenase 534 fatty acid beta-oxidation using acyl-CoA dehydrogenase|respiratory electron transport chain|response to oxidative stress|transport integral to mitochondrial inner membrane|mitochondrial matrix 4 iron, 4 sulfur cluster binding|electron carrier activity|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding|metal ion binding|oxidoreductase activity, oxidizing metal ions with flavin as acceptor|ubiquinone binding central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|prostate(1)|skin(3) 28 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.0172) ATGACCAGCCGGCACACTTAA 0.443000 23 135 0 0 1 0 0 PCDHGA9 56107 broad.mit.edu 37 5 140782686 140782686 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr5:140782686C>A ENST00000573521.1 + 1 167 c.167C>A c.(166-168)cCc>cAc p.P56H PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA8_ENST00000398604.2_Intron NM_018921.2|NM_032089.1 NP_061744.1|NP_114478.1 endometrium(1)|kidney(1)|lung(3) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCTCTGGAGCCCCGGGAGCTG 0.612000 33 73 2.42023e-17 3.46431e-17 1 1 0 FAM105A 54491 broad.mit.edu 37 5 14601150 14601150 + Missense_Mutation SNP T T A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr5:14601150T>A ENST00000274217.3 + 2 261 c.141T>A c.(139-141)ttT>ttA p.F47L NM_019018.2 NP_061891.1 Q9NUU6 F105A_HUMAN family with sequence similarity 105, member A 47 large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 Lung NSC(4;0.00592) CAAAAGGCTTTGTGATGTTGG 0.428000 8 201 0 0 1 0 0 C2CD5 9847 broad.mit.edu 37 12 22609907 22609907 + Nonsense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr12:22609907C>A ENST00000333957.4 - 23 2977 c.2722G>T c.(2722-2724)Gag>Tag p.E908* C2CD5_ENST00000446597.1_Nonsense_Mutation_p.E959*|C2CD5_ENST00000545552.1_Nonsense_Mutation_p.E962*|C2CD5_ENST00000542676.1_Nonsense_Mutation_p.E959*|C2CD5_ENST00000536386.1_Nonsense_Mutation_p.E961*|C2CD5_ENST00000544930.1_Nonsense_Mutation_p.E764*|C2CD5_ENST00000396028.2_Nonsense_Mutation_p.E950* NM_014802.1 NP_055617.1 C2 calcium-dependent domain containing 5 AAAATTACCTCCCGAAGAGAA 0.269000 10 28 1.58986e-06 1.82314e-06 1 1 0 CHST5 23563 broad.mit.edu 37 16 75563756 75563756 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr16:75563756G>A ENST00000336257.3 - 3 1921 c.527C>T c.(526-528)aCg>aTg p.T176M RP11-77K12.7_ENST00000460606.1_3'UTR|CHST5_ENST00000541075.1_Missense_Mutation_p.T182M NM_024533.4 NP_078809.2 Q9GZS9 CHST5_HUMAN carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5 176 N-acetylglucosamine metabolic process|protein sulfation integral to membrane|intrinsic to Golgi membrane N-acetylglucosamine 6-O-sulfotransferase activity p.T176M(2) cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2) 24 TGGCTGCCGCGTGCACAGTGT 0.662000 5 193 0 0 1 0 0 CROCC 9696 broad.mit.edu 37 1 17249172 17249172 + Silent SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:17249172C>T ENST00000375541.5 + 2 144 c.75C>T c.(73-75)agC>agT p.S25S NM_014675.3 NP_055490.3 Q5TZA2 CROCC_HUMAN ciliary rootlet coiled-coil, rootletin 25 cell cycle|cell projection organization|centrosome organization|protein localization actin cytoskeleton|centriole|ciliary rootlet|plasma membrane kinesin binding|structural molecule activity breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1) 62 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181) TGGAGAGCAGCGTCCTGTGCC 0.647000 44 254 0 0 1 0 0 HIST1H2BJ 8970 broad.mit.edu 37 6 27100252 27100252 + Missense_Mutation SNP C C G rs116395770 byFrequency TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr6:27100252C>G ENST00000607124.1 - 1 277 c.278G>C c.(277-279)aGg>aCg p.R93T HIST1H2BJ_ENST00000339812.2_Missense_Mutation_p.R93T|HIST1H2BJ_ENST00000541790.1_Missense_Mutation_p.R93T P06899 H2B1J_HUMAN histone cluster 1, H2bj 93 defense response to bacterium|nucleosome assembly nucleosome|nucleus DNA binding breast(1)|kidney(2)|lung(5)|ovary(1)|prostate(1) 10 CTGGATCTCCCTGGAGGTGAT 0.597000 34 80 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13916564 13916564 + Splice_Site SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr5:13916564G>T ENST00000265104.4 - 9 1194 c.1089_splice c.e9-1 p.L364_splice NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 364 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) ATCATGGATAGCTGAAAGATA 0.299000 Kartagener syndrome 10 47 7.48243e-07 8.66895e-07 1 1 0 HCFC1 3054 broad.mit.edu 37 X 153218232 153218232 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chrX:153218232G>T ENST00000310441.7 - 19 5641 c.4675C>A c.(4675-4677)Cag>Aag p.Q1559K HCFC1_ENST00000369984.4_Missense_Mutation_p.Q1603K|HCFC1_ENST00000354233.3_Missense_Mutation_p.Q1490K NM_005334.2 NP_005325.2 P51610 HCFC1_HUMAN host cell factor C1 (VP16-accessory protein) 1559 cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GCAGACTCCTGGCCCGAAGAT 0.652000 OREG0003630 type=REGULATORY REGION|Gene=BC010606|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 3 27 0.115264 0.116511 1 1 0 AFAP1 60312 broad.mit.edu 37 4 7787982 7787982 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr4:7787982C>A ENST00000420658.1 - 12 1741 c.1469G>T c.(1468-1470)gGc>gTc p.G490V AFAP1_ENST00000360265.4_Missense_Mutation_p.G490V|AFAP1_ENST00000513842.1_5'UTR|AFAP1_ENST00000382543.3_Missense_Mutation_p.G490V|AFAP1_ENST00000358461.2_Missense_Mutation_p.G490V NM_001134647.1 NP_001128119.1 Q8N556 AFAP1_HUMAN actin filament associated protein 1 490 actin cytoskeleton|cytoplasm|focal adhesion actin binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2) 32 GTGGGCATAGCCGTTGGAGGT 0.483000 39 85 3.43241e-23 5.19494e-23 1 1 0 GLRA2 2742 broad.mit.edu 37 X 14550436 14550436 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chrX:14550436G>T ENST00000218075.4 + 2 674 c.144G>T c.(142-144)ttG>ttT p.L48F GLRA2_ENST00000355020.4_Missense_Mutation_p.L48F|GLRA2_ENST00000443437.2_5'UTR NM_002063.3 NP_002054.1 P23416 GLRA2_HUMAN glycine receptor, alpha 2 48 neuropeptide signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2) 37 Hepatocellular(33;0.128) Ethanol(DB00898)|Glycine(DB00145) CAGATTTCTTGGACAAGTTAA 0.398000 35 72 1.36161e-19 2.00138e-19 1 1 0 SHOX 6473 broad.mit.edu 37 X 591755 591755 + Missense_Mutation SNP C C A rs140473647 TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chrX:591755C>A ENST00000381578.1 + 2 814 c.123C>A c.(121-123)agC>agA p.S41R SHOX_ENST00000334060.3_Missense_Mutation_p.S41R|SHOX_ENST00000554971.1_Missense_Mutation_p.S41R|SHOX_ENST00000381575.1_Missense_Mutation_p.S41R NM_000451.3 NP_000442.1 O15266 SHOX_HUMAN short stature homeobox 41 skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(3)|lung(9)|prostate(1) 13 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) TTTTGGAGAGCGGACTGGCGC 0.612000 32 135 2.47316e-13 3.30787e-13 1 1 0 HOXA10 3206 broad.mit.edu 37 7 27212969 27212969 + Splice_Site SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr7:27212969C>A ENST00000283921.4 - 1 956 c.958_splice c.e1+1 p.L319_splice RP1-170O19.20_ENST00000470747.4_Intron|RP1-170O19.20_ENST00000465941.1_Intron|HOXA10_ENST00000396344.4_Intron NM_018951.3 NP_061824.3 P31260 HXA10_HUMAN homeobox A10 319 spermatogenesis protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1) 9 CCTGCTTACCCAGGGAATCCT 0.687000 4 36 0.000602214 0.000639568 1 1 0 TTN 7273 broad.mit.edu 37 2 179479024 179479024 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr2:179479024G>A ENST00000589042.1 - 262 49324 c.49100C>T c.(49099-49101)tCa>tTa p.S16367L TTN_ENST00000591111.1_Missense_Mutation_p.S14726L|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S7427L|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S7494L|TTN_ENST00000342992.6_Missense_Mutation_p.S13799L|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S7302L NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 14726 Ig-like 100. 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) TAGAAGACATGACTCATTGGT 0.428000 19 49 0 0 1 0 0 LRFN1 57622 broad.mit.edu 37 19 39804986 39804986 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:39804986C>A ENST00000248668.4 - 1 990 c.991G>T c.(991-993)Gtg>Ttg p.V331L NM_020862.1 NP_065913.1 Q9P244 LRFN1_HUMAN leucine rich repeat and fibronectin type III domain containing 1 331 Ig-like. cell junction|integral to membrane|postsynaptic density|postsynaptic membrane central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 18 all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512) Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335) ACCCAGTGCACCACCGGCTCG 0.736000 3 14 1 1 1 1 0 OXNAD1 92106 broad.mit.edu 37 3 16312542 16312542 + Missense_Mutation SNP T T C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr3:16312542T>C ENST00000285083.5 + 3 548 c.83T>C c.(82-84)tTg>tCg p.L28S OXNAD1_ENST00000544043.1_Missense_Mutation_p.L46S|OXNAD1_ENST00000605932.1_Missense_Mutation_p.L28S|OXNAD1_ENST00000435829.2_Missense_Mutation_p.L46S|OXNAD1_ENST00000606098.1_Missense_Mutation_p.L28S NM_138381.3 NP_612390.1 Q96HP4 OXND1_HUMAN oxidoreductase NAD-binding domain containing 1 28 oxidoreductase activity endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|skin(2) 13 TCACTGAGATTGACACTCAGC 0.498000 57 52 0 0 1 0 0 DUSP27 92235 broad.mit.edu 37 1 167083024 167083024 + Missense_Mutation SNP A A T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:167083024A>T ENST00000361200.2 + 3 354 c.188A>T c.(187-189)aAa>aTa p.K63I DUSP27_ENST00000443333.1_Missense_Mutation_p.K63I|DUSP27_ENST00000271385.5_Missense_Mutation_p.K63I Q5VZP5 DUS27_HUMAN dual specificity phosphatase 27 (putative) 63 protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3) 89 ATTGCAGCCAAACAGATCATC 0.468000 30 206 0 0 1 0 0 HPGD 3248 broad.mit.edu 37 4 175439175 175439175 + Translation_Start_Site SNP T T C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr4:175439175T>C ENST00000510901.1 - 0 619 HPGD_ENST00000296521.7_Missense_Mutation_p.N91D|HPGD_ENST00000504433.1_Missense_Mutation_p.N91D|HPGD_ENST00000422112.2_Intron|HPGD_ENST00000296522.6_Missense_Mutation_p.N91D|HPGD_ENST00000542498.1_Missense_Mutation_p.N91D|HPGD_ENST00000541923.1_Intron P15428 PGDH_HUMAN hydroxyprostaglandin dehydrogenase 15-(NAD) female pregnancy|lipoxygenase pathway|negative regulation of cell cycle|parturition|prostaglandin metabolic process|transforming growth factor beta receptor signaling pathway cytosol|nucleus 15-hydroxyprostaglandin dehydrogenase (NAD+) activity|NAD+ binding|prostaglandin E receptor activity|protein homodimerization activity kidney(1)|lung(3)|prostate(3) 7 Prostate(90;0.00763)|Melanoma(52;0.0179)|Renal(120;0.0376)|Breast(14;0.0991)|all_hematologic(60;0.124)|all_neural(102;0.196) all cancers(43;2.6e-18)|Epithelial(43;4.19e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.23e-09)|GBM - Glioblastoma multiforme(59;0.00176)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.0253) NADH(DB00157) ACTCCAGCATTATTGACCAAA 0.279000 8 24 0 0 1 0 0 GLB1L3 112937 broad.mit.edu 37 11 134188564 134188564 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:134188564C>A ENST00000431683.2 + 19 1819 c.1819C>A c.(1819-1821)Ctt>Att p.L607I NM_001080407.2 NP_001073876.2 Q8NCI6 GLBL3_HUMAN galactosidase, beta 1-like 3 607 carbohydrate metabolic process cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1) 13 all_hematologic(175;0.127) all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559) Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222) TGGACGTAACCTTGGGCGATA 0.428000 3 17 1 1 1 1 0 LOC644669 644669 broad.mit.edu 37 18 15323315 15323315 + RNA SNP T T A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr18:15323315T>A ENST00000455308.2 - 0 533 NR_027417.1 TTCCACAATTTGCTCACTTCT 0.308000 3 4 0 0 1 0 0 PLEC 5339 broad.mit.edu 37 8 144990541 144990541 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr8:144990541G>A ENST00000322810.4 - 32 14028 c.13859C>T c.(13858-13860)tCc>tTc p.S4620F PLEC_ENST00000398774.2_Missense_Mutation_p.S4451F|PLEC_ENST00000527096.1_Missense_Mutation_p.S4506F|PLEC_ENST00000354958.2_Missense_Mutation_p.S4461F|PLEC_ENST00000436759.2_Missense_Mutation_p.S4510F|PLEC_ENST00000357649.2_Missense_Mutation_p.S4487F|PLEC_ENST00000354589.3_Missense_Mutation_p.S4483F|PLEC_ENST00000356346.3_Missense_Mutation_p.S4469F|PLEC_ENST00000345136.3_Missense_Mutation_p.S4483F NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 4620 Globular 2. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 GGTAGAGCCGGAGCCGCTGAC 0.736000 20 28 0 0 1 0 0 FAM127A 8933 broad.mit.edu 37 X 134166523 134166523 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chrX:134166523C>A ENST00000257013.7 + 1 191 c.110C>A c.(109-111)aCc>aAc p.T37N FAM127A_ENST00000464369.1_3'UTR NM_001078171.1 NP_001071639.1 A6ZKI3 F127A_HUMAN family with sequence similarity 127, member A 37 endometrium(3)|urinary_tract(1) 4 Acute lymphoblastic leukemia(192;0.000127) GACGGCGATACCGACCGACTC 0.622000 25 114 3.01185e-09 3.67951e-09 1 1 0 ZNF219 51222 broad.mit.edu 37 14 21560060 21560060 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr14:21560060C>A ENST00000360947.3 - 3 1807 c.1396G>T c.(1396-1398)Gct>Tct p.A466S ZNF219_ENST00000421093.2_Missense_Mutation_p.A466S|ZNF219_ENST00000451119.2_Missense_Mutation_p.A466S|RP11-998D10.7_ENST00000554733.2_lincRNA NM_016423.2 NP_057507.2 Q9P2Y4 ZN219_HUMAN zinc finger protein 219 466 negative regulation of transcription, DNA-dependent integral to membrane|nucleus DNA binding|histamine receptor activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(2) 8 all_cancers(95;0.00185) OV - Ovarian serous cystadenocarcinoma(11;9.86e-11)|Epithelial(56;1.27e-08)|all cancers(55;6.06e-08) GBM - Glioblastoma multiforme(265;0.0191) GCCCCAGCAGCAGAGGCAGAG 0.706000 5 20 0.0293803 0.0299002 1 1 0 SLC6A17 388662 broad.mit.edu 37 1 110740798 110740798 + Missense_Mutation SNP G G C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:110740798G>C ENST00000331565.4 + 12 2401 c.1916G>C c.(1915-1917)cGg>cCg p.R639P NM_001010898.2 NP_001010898.1 Q9H1V8 S6A17_HUMAN solute carrier family 6 (neutral amino acid transporter), member 17 639 alanine transport|glycine transport|leucine transport|proline transport cell junction|integral to plasma membrane|synaptic vesicle membrane neurotransmitter:sodium symporter activity breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 37 all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233) Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151) TTCGTCCTGCGGCACTTCCAC 0.597000 16 21 0 0 1 0 0 PPP1R17 10842 broad.mit.edu 37 7 31735133 31735133 + Missense_Mutation SNP A A G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr7:31735133A>G ENST00000342032.3 + 3 761 c.133A>G c.(133-135)Aga>Gga p.R45G PPP1R17_ENST00000409146.3_Intron NM_006658.4 NP_006649.2 O96001 GSUB_HUMAN protein phosphatase 1, regulatory subunit 17 45 behavior|central nervous system development|intracellular protein kinase cascade|protein phosphorylation soluble fraction AAAGAAGCCTAGAAAGGGAAA 0.388000 11 159 0 0 1 0 0 TJAP1 93643 broad.mit.edu 37 6 43473214 43473214 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr6:43473214C>T ENST00000372444.2 + 11 1698 c.1265C>T c.(1264-1266)aCa>aTa p.T422I TJAP1_ENST00000372449.1_Missense_Mutation_p.T432I|TJAP1_ENST00000259751.1_Missense_Mutation_p.T422I|TJAP1_ENST00000438588.2_Missense_Mutation_p.T432I|TJAP1_ENST00000483640.1_3'UTR|TJAP1_ENST00000436109.2_Missense_Mutation_p.T422I|TJAP1_ENST00000372445.5_Missense_Mutation_p.T432I|TJAP1_ENST00000372452.1_Missense_Mutation_p.T422I NM_001146018.1 NP_001139490.1 Q5JTD0 TJAP1_HUMAN tight junction associated protein 1 (peripheral) 432 Golgi apparatus|tight junction protein binding cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|urinary_tract(2) 21 all_lung(25;0.00536) Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0122)|OV - Ovarian serous cystadenocarcinoma(102;0.0804) GCCCAGCGCACAGCCTTTGGA 0.642000 12 59 0 0 1 0 0 GABRA4 2557 broad.mit.edu 37 4 46930762 46930762 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr4:46930762G>T ENST00000264318.3 - 9 2127 c.1145C>A c.(1144-1146)gCc>gAc p.A382D NM_000809.3|NM_001204266.1|NM_001204267.1 NP_000800.2|NP_001191195.1|NP_001191196.1 P48169 GBRA4_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 4 382 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) GTTCAAATTGGCATTTGTATT 0.313000 16 40 8.00594e-06 8.98315e-06 1 1 0 HORMAD1 84072 broad.mit.edu 37 1 150689667 150689667 + Translation_Start_Site SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:150689667G>A ENST00000368995.4 - 0 230 HORMAD1_ENST00000368993.2_Missense_Mutation_p.T42M|HORMAD1_ENST00000361824.2_Missense_Mutation_p.T42M|HORMAD1_ENST00000322343.7_Missense_Mutation_p.T42M|HORMAD1_ENST00000476530.1_5'UTR Q86X24 HORM1_HUMAN HORMA domain containing 1 blastocyst development|cell differentiation|meiotic DNA double-strand break formation|meiotic recombination checkpoint|meiotic sister chromatid cohesion|mitosis|oogenesis|regulation of homologous chromosome segregation|spermatogenesis|synaptonemal complex assembly chromosome|nucleus breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(3) 16 all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171) CCTCAAATACGTGATACAGGA 0.338000 15 104 0 0 1 0 0 KIRREL3 84623 broad.mit.edu 37 11 126306759 126306759 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:126306759G>T ENST00000525144.2 - 12 1748 c.1499C>A c.(1498-1500)aCg>aAg p.T500K KIRREL3_ENST00000525704.2_Missense_Mutation_p.T500K|KIRREL3_ENST00000416561.2_5'UTR|KIRREL3_ENST00000529097.2_Missense_Mutation_p.T500K NM_032531.3 NP_115920.1 Q8IZU9 KIRR3_HUMAN kin of IRRE like 3 (Drosophila) 500 Ig-like C2-type 5. hemopoiesis extracellular region|integral to membrane|plasma membrane protein binding central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1) 29 all_hematologic(175;0.145) Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12) GTTCCAGGCCGTGCAGTTGTA 0.592000 11 41 1.36491e-13 1.83213e-13 1 1 0 ZNF462 58499 broad.mit.edu 37 9 109689143 109689143 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr9:109689143G>T ENST00000277225.5 + 3 3239 c.2950G>T c.(2950-2952)Gct>Tct p.A984S ZNF462_ENST00000457913.1_Missense_Mutation_p.A984S Q96JM2 ZN462_HUMAN zinc finger protein 462 984 transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 TCTGAATTCGGCTCCCAAGAA 0.493000 31 74 2.65835e-16 3.7572e-16 1 1 0 DCAF13 25879 broad.mit.edu 37 8 104452493 104452493 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr8:104452493G>T ENST00000297579.5 + 9 1813 c.1536G>T c.(1534-1536)ttG>ttT p.L512F DCAF13_ENST00000521999.1_3'UTR NM_015420.6 NP_056235.4 Q9NV06 DCA13_HUMAN DDB1 and CUL4 associated factor 13 360 rRNA processing CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 25 CTGAAAAATTGGGTGTGGTAA 0.303000 28 70 2.4375e-19 3.56409e-19 1 1 0 SLC35F1 222553 broad.mit.edu 37 6 118475641 118475641 + Silent SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr6:118475641G>T ENST00000360388.4 + 2 408 c.207G>T c.(205-207)gtG>gtT p.V69V NM_001029858.3 NP_001025029.2 Q5T1Q4 S35F1_HUMAN solute carrier family 35, member F1 69 transport integral to membrane breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 36 GBM - Glioblastoma multiforme(226;0.217) TAGGCCAGGTGTTATCCCTCC 0.418000 38 46 2.05212e-20 3.04224e-20 1 1 0 C6 729 broad.mit.edu 37 5 41195894 41195894 + Splice_Site SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr5:41195894C>A ENST00000263413.3 - 5 851 c.587_splice c.e5+1 p.G196_splice C6_ENST00000337836.5_Splice_Site_p.G196_splice NM_001115131.1 NP_001108603.2 P13671 CO6_HUMAN complement component 6 196 MACPF. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2) 96 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) TGTTACATACCCATTGCCCAT 0.433000 77 190 8.2577e-42 1.33061e-41 1 1 0 PKD2L1 9033 broad.mit.edu 37 10 102056843 102056843 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr10:102056843C>A ENST00000318222.3 - 6 1461 c.1079G>T c.(1078-1080)tGc>tTc p.C360F PKD2L1_ENST00000338519.3_Missense_Mutation_p.C285F|PKD2L1_ENST00000353274.3_Missense_Mutation_p.C360F NM_001253837.1|NM_016112.2 NP_001240766.1|NP_057196.2 Q9P0L9 PK2L1_HUMAN polycystic kidney disease 2-like 1 360 signal transduction integral to membrane calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 43 Colorectal(252;0.117) Epithelial(162;6.15e-10)|all cancers(201;5.14e-08) GATGAAGACGCAGAAGATGAC 0.527000 20 49 3.10358e-05 3.42585e-05 1 1 0 PAPPA2 60676 broad.mit.edu 37 1 176762730 176762730 + Silent SNP C C G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:176762730C>G ENST00000367662.3 + 20 6219 c.5055C>G c.(5053-5055)ccC>ccG p.P1685P NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 1685 Sushi 5. cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 TAATCCCCCCCAGTGACCCCG 0.473000 11 108 0 0 1 0 0 TTC3 7267 broad.mit.edu 37 21 38559406 38559406 + Missense_Mutation SNP A A C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr21:38559406A>C ENST00000399017.2 + 38 7630 c.4883A>C c.(4882-4884)gAg>gCg p.E1628A TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000355666.1_Missense_Mutation_p.E1628A|TTC3_ENST00000354749.2_Missense_Mutation_p.E1628A NM_003316.3 NP_003307.3 P53804 TTC3_HUMAN tetratricopeptide repeat domain 3 1628 protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5) 75 Myeloproliferative disorder(46;0.0412) AAAGGGAAAGAGGATTATGAA 0.333000 9 29 0 0 1 0 0 ZNF449 203523 broad.mit.edu 37 X 134481311 134481311 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chrX:134481311G>T ENST00000339249.4 + 2 408 c.268G>T c.(268-270)Gtg>Ttg p.V90L ZNF449_ENST00000370761.3_Missense_Mutation_p.V90L|ZNF449_ENST00000370760.3_Missense_Mutation_p.V90L NM_152695.5 NP_689908.3 Q6P9G9 ZN449_HUMAN zinc finger protein 449 90 SCAN box. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1) 23 Acute lymphoblastic leukemia(192;6.56e-05) AGAGACCTGGGTGAGGGAGCA 0.468000 4 55 0.00024832 0.000267138 1 1 0 RTF1 23168 broad.mit.edu 37 15 41767986 41767986 + Missense_Mutation SNP A A C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr15:41767986A>C ENST00000389629.4 + 11 1463 c.1451A>C c.(1450-1452)aAt>aCt p.N484T NM_015138.4 NP_055953.3 Q92541 RTF1_HUMAN Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) 484 Plus3. histone modification|regulation of transcription, DNA-dependent|transcription initiation, DNA-dependent nucleoplasm protein binding|single-stranded DNA binding central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1) 18 all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143) OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119) GAAGCTCTTAATTATAAATTC 0.388000 6 25 0 0 1 0 0 CARD14 79092 broad.mit.edu 37 17 78163618 78163618 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr17:78163618C>A ENST00000573882.1 + 8 1446 c.910C>A c.(910-912)Cgc>Agc p.R304S CARD14_ENST00000573754.1_3'UTR|CARD14_ENST00000570421.1_Missense_Mutation_p.R304S|CARD14_ENST00000392434.2_Missense_Mutation_p.R67S|CARD14_ENST00000344227.2_Missense_Mutation_p.R304S Q9BXL6 CAR14_HUMAN caspase recruitment domain family, member 14 304 activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis aggresome|cytoplasm|plasma membrane CARD domain binding NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1) 23 all_neural(118;0.0952) OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908) GCTGGTGGAGCGCATCCACTC 0.687000 12 71 1.36491e-13 1.83213e-13 1 1 0 AMPH 273 broad.mit.edu 37 7 38433714 38433714 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr7:38433714G>T ENST00000356264.2 - 18 1714 c.1499C>A c.(1498-1500)cCt>cAt p.P500H AMPH_ENST00000428293.2_Missense_Mutation_p.P458H|AMPH_ENST00000471913.1_5'UTR|AMPH_ENST00000325590.5_Missense_Mutation_p.P458H NM_001635.3 NP_001626.1 P49418 AMPH_HUMAN amphiphysin 500 endocytosis|synaptic transmission actin cytoskeleton|cell junction|synaptic vesicle membrane breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2) 62 TTCCCCGGCAGGGACAGTGGC 0.567000 75 172 3.33186e-49 5.40373e-49 1 1 0 ZMYM3 9203 broad.mit.edu 37 X 70468355 70468355 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chrX:70468355C>A ENST00000373998.1 - 10 2454 c.1757G>T c.(1756-1758)gGc>gTc p.G586V ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000314425.5_Missense_Mutation_p.G586V|ZMYM3_ENST00000373984.3_Missense_Mutation_p.G588V|ZMYM3_ENST00000373988.1_Missense_Mutation_p.G588V|ZMYM3_ENST00000353904.2_Missense_Mutation_p.G586V NM_001171162.1 NP_001164633.1 Q14202 ZMYM3_HUMAN zinc finger, MYM-type 3 586 multicellular organismal development nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 Renal(35;0.156) CAGGTGAATGCCCCCCTCAGG 0.597000 6 27 0.00116845 0.00122986 1 1 0 NCKAP1 10787 broad.mit.edu 37 2 183800042 183800042 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr2:183800042C>A ENST00000360982.2 - 26 3533 c.2775G>T c.(2773-2775)ttG>ttT p.L925F NCKAP1_ENST00000361354.3_Missense_Mutation_p.L919F|NCKAP1_ENST00000478449.1_5'UTR NM_205842.1 NP_995314.1 Q9Y2A7 NCKP1_HUMAN NCK-associated protein 1 919 apoptosis|central nervous system development integral to membrane|lamellipodium membrane protein binding breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2) 45 OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209) CTTCTTGTGCCAATGATCGGA 0.328000 12 37 0.00185496 0.00194515 1 1 0 ACADVL 37 broad.mit.edu 37 17 7126991 7126991 + Missense_Mutation SNP T T A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr17:7126991T>A ENST00000356839.5 + 12 1390 c.1211T>A c.(1210-1212)aTg>aAg p.M404K ACADVL_ENST00000350303.5_Missense_Mutation_p.M382K|ACADVL_ENST00000543245.2_Missense_Mutation_p.M427K NM_000018.3|NM_001270448.1 NP_000009.1|NP_001257377.1 P49748 ACADV_HUMAN acyl-CoA dehydrogenase, very long chain 404 Catalytic. energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA dehydrogenase|negative regulation of fatty acid biosynthetic process|negative regulation of fatty acid oxidation|regulation of cholesterol metabolic process|temperature homeostasis mitochondrial inner membrane|mitochondrial nucleoid long-chain-acyl-CoA dehydrogenase activity breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(1)|ovary(4)|skin(1) 21 AGTGCTAACATGGACCAGGGA 0.547000 40 50 0 0 1 0 0 SLC16A14 151473 broad.mit.edu 37 2 230911238 230911238 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr2:230911238G>T ENST00000295190.4 - 4 1062 c.604C>A c.(604-606)Ctg>Atg p.L202M NM_152527.4 NP_689740.2 Q7RTX9 MOT14_HUMAN solute carrier family 16, member 14 202 integral to membrane|plasma membrane symporter activity NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948) CAAACACACAGGTTTAGGGAA 0.557000 37 115 2.40579e-17 3.44584e-17 1 1 0 TRIM38 10475 broad.mit.edu 37 6 25983574 25983574 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr6:25983574G>T ENST00000357085.3 + 8 1533 c.1057G>T c.(1057-1059)Gtt>Ttt p.V353F TRIM38_ENST00000349458.3_Missense_Mutation_p.V353F NM_006355.3 NP_006346.1 O00635 TRI38_HUMAN tripartite motif containing 38 353 B30.2/SPRY. positive regulation of I-kappaB kinase/NF-kappaB cascade intracellular signal transducer activity|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2) 23 TGAAGTGGATGTTGGCGAAGG 0.507000 34 49 2.48696e-23 3.76654e-23 1 1 0 SYTL2 54843 broad.mit.edu 37 11 85420535 85420535 + Silent SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:85420535G>A ENST00000359152.5 - 6 4376 c.4377C>T c.(4375-4377)ggC>ggT p.G1459G SYTL2_ENST00000527523.1_Silent_p.G581G|SYTL2_ENST00000524452.1_Silent_p.G589G|SYTL2_ENST00000389960.4_Silent_p.G589G|SYTL2_ENST00000316356.4_Silent_p.G614G|SYTL2_ENST00000529581.1_Silent_p.G55G|SYTL2_ENST00000528231.1_Silent_p.G613G|SYTL2_ENST00000389958.3_Silent_p.G44G|SYTL2_ENST00000525423.1_Silent_p.G935G|SYTL2_ENST00000533892.1_Silent_p.G15G|SYTL2_ENST00000354566.3_Silent_p.G951G|SYTL2_ENST00000525702.1_Silent_p.G55G NM_206928.2 NP_996811.1 Q9HCH5 SYTL2_HUMAN synaptotagmin-like 2 613 intracellular protein transport|vesicle docking involved in exocytosis exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033) KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237) TCATCACACTGCCACTCACCT 0.388000 12 117 0 0 1 0 0 SLCO1B1 10599 broad.mit.edu 37 12 21331856 21331856 + Splice_Site SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr12:21331856G>T ENST00000256958.2 + 7 725 c.628_splice c.e7-1 p.G210_splice NM_006446.4 NP_006437.3 Q9Y6L6 SO1B1_HUMAN solute carrier organic anion transporter family, member 1B1 210 bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|integral to plasma membrane|membrane fraction bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1) 70 Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175) ATATTTTCAGGTATATTGAAT 0.308000 16 61 8.60227e-14 1.16094e-13 1 1 0 THSD7A 221981 broad.mit.edu 37 7 11675919 11675919 + Missense_Mutation SNP C C G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr7:11675919C>G ENST00000423059.3 - 2 1111 c.860G>C c.(859-861)cGc>cCc p.R287P NM_015204.2 NP_056019.1 Q9UPZ6 THS7A_HUMAN thrombospondin, type I, domain containing 7A 287 integral to membrane NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11) 113 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) TCCTTTGCTGCGGTCCTTTTC 0.502000 HNSCC(18;0.044) 26 148 0 0 1 0 0 NFATC1 4772 broad.mit.edu 37 18 77193703 77193703 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr18:77193703G>T ENST00000253506.5 + 3 1720 c.1351G>T c.(1351-1353)Gtg>Ttg p.V451L NFATC1_ENST00000587635.1_Missense_Mutation_p.V451L|NFATC1_ENST00000397790.2_5'UTR|NFATC1_ENST00000318065.5_Missense_Mutation_p.V438L|NFATC1_ENST00000427363.2_Missense_Mutation_p.V451L|NFATC1_ENST00000592223.1_Missense_Mutation_p.V438L|NFATC1_ENST00000591814.1_Missense_Mutation_p.V451L|NFATC1_ENST00000542384.1_Missense_Mutation_p.V451L|NFATC1_ENST00000545796.1_5'UTR|NFATC1_ENST00000329101.4_Missense_Mutation_p.V438L|NFATC1_ENST00000586434.1_Missense_Mutation_p.V438L NM_006162.3 NP_006153.2 O95644 NFAC1_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1 451 RHD. intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleus FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1) 40 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257) CCGGGGGGCCGTGAAGGCGTC 0.637000 57 91 4.95377e-46 8.01681e-46 1 1 0 PTCD1 26024 broad.mit.edu 37 7 99017596 99017596 + Silent SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr7:99017596G>A ENST00000292478.4 - 8 2347 c.2097C>T c.(2095-2097)ggC>ggT p.G699G ATP5J2-PTCD1_ENST00000413834.1_Silent_p.G748G|PTCD1_ENST00000555673.1_Silent_p.G748G NM_015545.3 NP_056360.2 pentatricopeptide repeat domain 1 endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1) 27 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) STAD - Stomach adenocarcinoma(171;0.215) CCCATCACCTGCCCCCAAGGG 0.657000 17 154 0 0 1 0 0 RUSC2 9853 broad.mit.edu 37 9 35547964 35547964 + Silent SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr9:35547964G>A ENST00000455600.1 + 2 2015 c.1446G>A c.(1444-1446)acG>acA p.T482T NM_001135999.1 NP_001129471.1 Q8N2Y8 RUSC2_HUMAN RUN and SH3 domain containing 2 482 cytosol NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194) AAGTATACACGAATACTTCAC 0.607000 18 94 0 0 1 0 0 CLIP1 6249 broad.mit.edu 37 12 122862383 122862383 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr12:122862383C>A ENST00000358808.2 - 3 364 c.210G>T c.(208-210)aaG>aaT p.K70N CLIP1_ENST00000540338.1_Missense_Mutation_p.K70N|CLIP1_ENST00000537178.1_Missense_Mutation_p.K70N|CLIP1_ENST00000361654.4_Missense_Mutation_p.K70N|CLIP1_ENST00000302528.7_Missense_Mutation_p.K70N NM_001247997.1|NM_002956.2 NP_001234926.1|NP_002947.1 P30622 CLIP1_HUMAN CAP-GLY domain containing linker protein 1 70 mitotic prometaphase|positive regulation of microtubule polymerization centrosome|cytosol|endosome|intermediate filament|kinetochore nucleic acid binding|protein homodimerization activity|zinc ion binding NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226) TAAATCCAGGCTTATTTCCAT 0.468000 72 156 1.42382e-21 2.12625e-21 1 1 0 PRRC2A 7916 broad.mit.edu 37 6 31602685 31602685 + Silent SNP T T G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr6:31602685T>G ENST00000376033.2 + 21 5325 c.5091T>G c.(5089-5091)ccT>ccG p.P1697P PRRC2A_ENST00000376007.4_Silent_p.P1697P NM_004638.3 NP_004629.3 P48634 PRC2A_HUMAN proline-rich coiled-coil 2A 1697 4 X 57 AA type A repeats. cytoplasm|nucleus protein binding breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 70 ATGCTGTTCCTTGTGAGGGTC 0.592000 39 56 0 0 1 0 0 PPP1R13L 10848 broad.mit.edu 37 19 45889086 45889086 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:45889086C>T ENST00000418234.2 - 10 2155 c.2077G>A c.(2077-2079)Ggc>Agc p.G693S PPP1R13L_ENST00000360957.5_Missense_Mutation_p.G693S NM_001142502.1 NP_001135974.1 Q8WUF5 IASPP_HUMAN protein phosphatase 1, regulatory subunit 13 like 693 apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus transcription corepressor activity|transcription factor binding breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0182) GCTCACCAGCCGTGGCTGTCG 0.687000 6 21 0 0 1 0 0 TMEM132E 124842 broad.mit.edu 37 17 32954026 32954026 + Silent SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr17:32954026C>A ENST00000321639.5 + 3 1006 c.678C>A c.(676-678)gcC>gcA p.A226A NM_207313.1 NP_997196.1 Q6IEE7 T132E_HUMAN transmembrane protein 132E 226 integral to membrane breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 57 BRCA - Breast invasive adenocarcinoma(366;0.231) TCTATCTGGCCCCCAACTCCT 0.617000 18 77 1.64113e-05 1.82231e-05 1 1 0 NPBWR2 2832 broad.mit.edu 37 20 62737585 62737585 + Silent SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr20:62737585G>A ENST00000369768.1 - 1 939 c.600C>T c.(598-600)agC>agT p.S200S NM_005286.2 NP_005277.2 P48146 NPBW2_HUMAN neuropeptides B/W receptor 2 200 plasma membrane opioid receptor activity|protein binding haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09) GCCACGGGAAGCTCAGCCCAC 0.622000 9 47 0 0 1 0 0 SRGAP1 57522 broad.mit.edu 37 12 64491126 64491126 + Missense_Mutation SNP A A T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr12:64491126A>T ENST00000355086.3 + 15 2308 c.1784A>T c.(1783-1785)gAa>gTa p.E595V SRGAP1_ENST00000357825.3_Missense_Mutation_p.E572V|RP11-196H14.2_ENST00000535594.1_RNA|SRGAP1_ENST00000543397.1_Missense_Mutation_p.E532V NM_020762.2 NP_065813.1 Q7Z6B7 SRGP1_HUMAN SLIT-ROBO Rho GTPase activating protein 1 595 Rho-GAP. axon guidance cytosol breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 65 GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225) GBM - Glioblastoma multiforme(28;0.0608) TTTCCTAAGGAAAGATTTAAC 0.403000 14 30 0 0 1 0 0 CDH23 64072 broad.mit.edu 37 10 73544654 73544654 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr10:73544654G>T ENST00000224721.6 + 42 5529 c.5524G>T c.(5524-5526)Gtg>Ttg p.V1842L NM_022124.5 NP_071407.4 Q9H251 CAD23_HUMAN cadherin-related 23 1837 Cadherin 17. calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3) 133 CCAGATGCTGGTGGGGATCCG 0.597000 9 39 3.86212e-05 4.23813e-05 1 1 0 RAPGEFL1 51195 broad.mit.edu 37 17 38349915 38349915 + Splice_Site SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr17:38349915G>T ENST00000436615.3 + 15 1736 c.e15-1 RAPGEFL1_ENST00000456989.2_Splice_Site|RAPGEFL1_ENST00000544503.1_Splice_Site|RAPGEFL1_ENST00000264644.6_Splice_Site NM_016339.3 NP_057423.1 Q9UHV5 RPGFL_HUMAN Rap guanine nucleotide exchange factor (GEF)-like 1 G-protein coupled receptor protein signaling pathway|nervous system development|small GTPase mediated signal transduction intracellular|membrane fraction guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1) 15 TTACCCACTAGGCCTGGACAT 0.557000 14 56 2.32078e-09 2.86018e-09 1 1 0 OR2M2 391194 broad.mit.edu 37 1 248343685 248343685 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:248343685C>T ENST00000359682.2 + 1 398 c.398C>T c.(397-399)aCc>aTc p.T133I NM_001004688.1 NP_001004688.1 Q96R28 OR2M2_HUMAN olfactory receptor, family 2, subfamily M, member 2 133 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3) 70 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) CTAAGATATACCAATCTCATG 0.398000 89 319 0 0 1 0 0 HSPG2 3339 broad.mit.edu 37 1 22178156 22178156 + Silent SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:22178156G>A ENST00000374695.3 - 55 7120 c.7041C>T c.(7039-7041)ccC>ccT p.P2347P HSPG2_ENST00000430507.1_3'UTR NM_005529.5 NP_005520.4 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 2347 Ig-like C2-type 9. angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3) 127 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) GCGAGGAGGAGGGCTCGATGC 0.647000 35 100 0 0 1 0 0 TCF20 6942 broad.mit.edu 37 22 42611186 42611186 + Silent SNP T T A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr22:42611186T>A ENST00000359486.3 - 1 262 c.126A>T c.(124-126)ggA>ggT p.G42G TCF20_ENST00000335626.4_Silent_p.G42G NM_005650.1 NP_005641.1 Q9UGU0 TCF20_HUMAN transcription factor 20 (AR1) 42 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5) 66 cacctgtacctccaAAATTCT 0.602000 7 28 0 0 1 0 0 ZNF90 7643 broad.mit.edu 37 19 20215047 20215047 + Splice_Site SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:20215047G>T ENST00000418063.2 + 2 115 c.e2-1 ZNF90_ENST00000474284.1_Intron NM_007138.1 NP_009069.1 Q03938 ZNF90_HUMAN zinc finger protein 90 Golgi apparatus|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|lung(2)|ovary(1)|skin(1) 5 GTGTTTTTCAGGGACCATTGG 0.398000 15 114 3.32936e-07 3.88945e-07 1 1 0 DVL2 1856 broad.mit.edu 37 17 7137547 7137547 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr17:7137547C>A ENST00000005340.5 - 1 317 c.35G>T c.(34-36)gGg>gTg p.G12V DVL2_ENST00000575458.1_Missense_Mutation_p.G12V NM_004422.2 NP_004413.1 O14641 DVL2_HUMAN dishevelled segment polarity protein 2 12 DIX.|Poly-Gly. canonical Wnt receptor signaling pathway involved in regulation of cell proliferation|intracellular signal transduction|neural tube closure|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|segment specification|transcription from RNA polymerase II promoter cytosol|nucleus|plasma membrane frizzled binding|identical protein binding|signal transducer activity breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1) 25 CTTCGTCTCCCCAACCCCACC 0.667000 34 41 2.68265e-12 3.51266e-12 1 1 0 BHLHB9 80823 broad.mit.edu 37 X 102004753 102004753 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chrX:102004753C>T ENST00000372735.1 + 4 1415 c.830C>T c.(829-831)cCt>cTt p.P277L BHLHB9_ENST00000457056.1_Missense_Mutation_p.P277L|BHLHB9_ENST00000448867.1_Missense_Mutation_p.P277L|BHLHB9_ENST00000447531.1_Missense_Mutation_p.P277L|BHLHB9_ENST00000361229.4_Missense_Mutation_p.P277L Q6PI77 BHLH9_HUMAN basic helix-loop-helix domain containing, class B, 9 277 cytoplasm|nucleus binding cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 TGCTCACAGCCTATCCCTGAG 0.483000 25 79 0 0 1 0 0 ELF1 1997 broad.mit.edu 37 13 41507915 41507915 + Silent SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr13:41507915G>T ENST00000239882.3 - 9 1820 c.1506C>A c.(1504-1506)gcC>gcA p.A502A ELF1_ENST00000498824.1_5'UTR|ELF1_ENST00000442101.1_Silent_p.A478A NM_172373.3 NP_758961.1 P32519 ELF1_HUMAN E74-like factor 1 (ets domain transcription factor) 502 positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 37 Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367) all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072) GCTGAACCTGGGCAGGGCCCA 0.507000 46 64 1.00776e-21 1.50593e-21 1 1 0 ESAM 90952 broad.mit.edu 37 11 124624608 124624608 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:124624608C>A ENST00000278927.5 - 5 788 c.659G>T c.(658-660)gGa>gTa p.G220V ESAM_ENST00000442070.2_Missense_Mutation_p.G41V NM_138961.2 NP_620411.2 Q96AP7 ESAM_HUMAN endothelial cell adhesion molecule 220 Ig-like C2-type. blood coagulation|leukocyte migration adherens junction|integral to membrane|tight junction endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 16 all_hematologic(175;0.215) Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.022) GACATAGACTCCAGCCATGGA 0.507000 39 220 8.69298e-16 1.21865e-15 1 1 0 HERC5 51191 broad.mit.edu 37 4 89380600 89380600 + Missense_Mutation SNP A A G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr4:89380600A>G ENST00000264350.3 + 2 521 c.368A>G c.(367-369)aAc>aGc p.N123S HERC5_ENST00000508695.1_3'UTR NM_016323.3 NP_057407.2 Q9UII4 HERC5_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 5 123 innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus cytosol|perinuclear region of cytoplasm ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4) 53 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000209) GAGTATGACAACTATAGCATG 0.308000 30 72 0 0 1 0 0 CAPN7 23473 broad.mit.edu 37 3 15275390 15275390 + Missense_Mutation SNP C C G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr3:15275390C>G ENST00000253693.2 + 11 1449 c.1196C>G c.(1195-1197)gCa>gGa p.A399G NM_014296.2 NP_055111.1 Q9Y6W3 CAN7_HUMAN calpain 7 399 Calpain catalytic. proteolysis nucleus calcium-dependent cysteine-type endopeptidase activity breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|skin(2) 22 GATCTTCATGCACTGACTGGC 0.368000 22 52 0 0 1 0 0 GBF1 8729 broad.mit.edu 37 10 104139347 104139347 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr10:104139347C>T ENST00000369983.3 + 35 4972 c.4712C>T c.(4711-4713)gCa>gTa p.A1571V NM_001199378.1|NM_001199379.1|NM_004193.2 NP_001186307.1|NP_001186308.1|NP_004184.1 Q92538 GBF1_HUMAN golgi brefeldin A resistant guanine nucleotide exchange factor 1 1571 COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane ARF guanyl-nucleotide exchange factor activity|protein binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 71 Colorectal(252;0.0236) Epithelial(162;5.16e-08)|all cancers(201;1.19e-06) CTGCAGCGAGCACTACTTGTA 0.517000 25 172 0 0 1 0 0 OR13C4 138804 broad.mit.edu 37 9 107289317 107289317 + Silent SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr9:107289317G>T ENST00000277216.3 - 1 173 c.174C>A c.(172-174)ccC>ccA p.P58P NM_001001919.1 NP_001001919.1 Q8NGS5 O13C4_HUMAN olfactory receptor, family 13, subfamily C, member 4 58 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|large_intestine(2)|lung(14)|skin(1) 18 AGAAGTACATGGGCATGTGAA 0.413000 11 98 5.50884e-06 6.18744e-06 1 1 0 CCDC120 90060 broad.mit.edu 37 X 48924954 48924954 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chrX:48924954G>A ENST00000376396.3 + 10 1418 c.1199G>A c.(1198-1200)cGc>cAc p.R400H CCDC120_ENST00000422185.2_Missense_Mutation_p.R400H|CCDC120_ENST00000603986.1_Missense_Mutation_p.R435H|CCDC120_ENST00000536628.2_Missense_Mutation_p.R388H|CCDC120_ENST00000496529.2_Missense_Mutation_p.R400H|CCDC120_ENST00000597275.1_Missense_Mutation_p.R400H NM_001271835.1|NM_001271836.1|NM_033626.2 NP_001258764.1|NP_001258765.1|NP_296375.1 Q96HB5 CC120_HUMAN coiled-coil domain containing 120 400 Pro-rich. protein binding breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 14 CTGTATGAGCGCCCCCAACCA 0.736000 5 15 0 0 1 0 0 PROKR2 128674 broad.mit.edu 37 20 5283044 5283044 + Missense_Mutation SNP C C A rs143647776 TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr20:5283044C>A ENST00000546004.1 - 3 1043 c.797G>T c.(796-798)cGg>cTg p.R266L PROKR2_ENST00000217270.3_Missense_Mutation_p.R266L Q8NFJ6 PKR2_HUMAN prokineticin receptor 2 266 integral to membrane|plasma membrane neuropeptide Y receptor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 53 GCAGCGCAGCCGCTTGCGAAT 0.612000 HNSCC(71;0.22) 28 29 1.12875e-08 1.35972e-08 1 1 0 KCNT2 343450 broad.mit.edu 37 1 196397357 196397357 + Missense_Mutation SNP C C G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:196397357C>G ENST00000367433.5 - 10 963 c.862G>C c.(862-864)Gga>Cga p.G288R KCNT2_ENST00000451324.2_Intron|KCNT2_ENST00000294725.8_Missense_Mutation_p.G288R|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000367431.4_Missense_Mutation_p.G288R Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 288 voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1) 97 TAGTTTCCTCCTGACTTTTGT 0.338000 12 72 0 0 1 0 0 TTBK1 84630 broad.mit.edu 37 6 43230705 43230705 + Nonsense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr6:43230705G>T ENST00000259750.4 + 13 1686 c.1603G>T c.(1603-1605)Gag>Tag p.E535* TTBK1_ENST00000304139.5_Nonsense_Mutation_p.E484* NM_032538.1 NP_115927.1 Q5TCY1 TTBK1_HUMAN tau tubulin kinase 1 535 cell junction|cytoplasm|nucleus ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399) GCTGGCTGAGGAGGAGGATTT 0.642000 7 25 3.09899e-07 3.62599e-07 1 1 0 ELMOD1 55531 broad.mit.edu 37 11 107506439 107506439 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:107506439G>T ENST00000265840.7 + 6 633 c.368G>T c.(367-369)cGt>cTt p.R123L ELMOD1_ENST00000531234.1_Missense_Mutation_p.R117L|ELMOD1_ENST00000443271.2_Missense_Mutation_p.R123L NM_018712.3 NP_061182.3 Q8N336 ELMD1_HUMAN ELMO/CED-12 domain containing 1 123 phagocytosis cytoskeleton GTPase activator activity endometrium(2)|large_intestine(5)|liver(2)|lung(7)|pancreas(2)|prostate(1) 19 Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104) BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481) GAAAAACTGCGTAGAGAGGCC 0.433000 13 69 4.3838e-07 5.10798e-07 1 1 0 RNF6 6049 broad.mit.edu 37 13 26788287 26788287 + Missense_Mutation SNP C C G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr13:26788287C>G ENST00000381588.4 - 5 2484 c.1732G>C c.(1732-1734)Gtt>Ctt p.V578L RNF6_ENST00000468480.1_Intron|RNF6_ENST00000381570.3_Missense_Mutation_p.V578L|RNF6_ENST00000399762.2_Missense_Mutation_p.V222L|RNF6_ENST00000346166.3_Missense_Mutation_p.V578L NM_005977.3 NP_005968.1 Q9Y252 RNF6_HUMAN ring finger protein (C3H2C3 type) 6 578 negative regulation of axon extension|positive regulation of transcription, DNA-dependent|protein K27-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|regulation of androgen receptor signaling pathway|ubiquitin-dependent protein catabolic process axon|cytoplasm|PML body androgen receptor binding|ubiquitin-protein ligase activity|zinc ion binding breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2) 23 Colorectal(5;0.000442) Lung SC(185;0.0156)|Breast(139;0.147) all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245) CCAGTTTCAACTAAATTGTTT 0.428000 15 71 0 0 1 0 0 FOXL1 2300 broad.mit.edu 37 16 86612677 86612677 + Silent SNP G G C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr16:86612677G>C ENST00000320241.3 + 1 563 c.348G>C c.(346-348)cgG>cgC p.R116R NM_005250.2 NP_005241.1 Q12952 FOXL1_HUMAN forkhead box L1 116 brain development|camera-type eye development|cartilage development|embryo development|forelimb morphogenesis|heart development|organ morphogenesis|pattern specification process|proteoglycan biosynthetic process|regulation of sequence-specific DNA binding transcription factor activity|regulation of Wnt receptor signaling pathway|visceral mesoderm-endoderm interaction involved in midgut development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(2)|prostate(3)|skin(1)|urinary_tract(1) 15 AGAAAGGGCGGCCGGGCAAGG 0.662000 48 58 0 0 1 0 0 IGSF22 283284 broad.mit.edu 37 11 18735861 18735861 + Silent SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:18735861G>T ENST00000513874.1 - 13 1900 c.1761C>A c.(1759-1761)gcC>gcA p.A587A RP11-1081L13.4_ENST00000527285.1_RNA NM_173588.3 NP_775859.3 Q8N9C0 IGS22_HUMAN immunoglobulin superfamily, member 22 587 NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3) 56 CCGTGCCCTTGGCCCGGAATG 0.557000 17 38 8.28177e-16 1.16245e-15 1 1 0 CASK 8573 broad.mit.edu 37 X 41524663 41524663 + Missense_Mutation SNP T T C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chrX:41524663T>C ENST00000318588.9 - 7 620 c.575A>G c.(574-576)aAa>aGa p.K192R CASK_ENST00000378163.1_Missense_Mutation_p.K192R|CASK_ENST00000378158.1_Missense_Mutation_p.K192R|CASK_ENST00000442742.2_Missense_Mutation_p.K192R|CASK_ENST00000378166.4_Missense_Mutation_p.K192R|CASK_ENST00000421587.2_Missense_Mutation_p.K192R|CASK_ENST00000378154.1_Missense_Mutation_p.K192R|CASK_ENST00000361962.4_Missense_Mutation_p.K192R O14936 CSKP_HUMAN calcium/calmodulin-dependent serine protein kinase (MAGUK family) 192 Protein kinase. cell adhesion actin cytoskeleton|cytoplasm|nucleus|plasma membrane ATP binding|calmodulin binding|guanylate kinase activity|protein serine/threonine kinase activity breast(3)|endometrium(5)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|ovary(3)|prostate(1)|stomach(1) 32 AGGCTCTCTTTTGACCACTTC 0.413000 3 19 0 0 1 0 0 UGT2B4 7363 broad.mit.edu 37 4 70359531 70359531 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr4:70359531C>T ENST00000305107.6 - 2 796 c.750G>A c.(748-750)atG>atA p.M250I UGT2B4_ENST00000512583.1_Missense_Mutation_p.M250I|UGT2B4_ENST00000381096.3_Missense_Mutation_p.M114I|UGT2B4_ENST00000506580.1_5'UTR NM_021139.2 NP_066962.2 P06133 UD2B4_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B4 250 estrogen catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 47 CAGCTTTTGCCATTGTCTCAG 0.383000 14 67 0 0 1 0 0 DVL2 1856 broad.mit.edu 37 17 7133647 7133647 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr17:7133647C>T ENST00000005340.5 - 3 649 c.367G>A c.(367-369)Gag>Aag p.E123K DVL2_ENST00000574642.1_5'UTR|DVL2_ENST00000575458.1_Missense_Mutation_p.E123K NM_004422.2 NP_004413.1 O14641 DVL2_HUMAN dishevelled segment polarity protein 2 123 canonical Wnt receptor signaling pathway involved in regulation of cell proliferation|intracellular signal transduction|neural tube closure|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|segment specification|transcription from RNA polymerase II promoter cytosol|nucleus|plasma membrane frizzled binding|identical protein binding|signal transducer activity breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1) 25 CTGGTCCTCTCGGGTGGCAAA 0.617000 17 71 0 0 1 0 0 FAM91A1 157769 broad.mit.edu 37 8 124799557 124799557 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr8:124799557G>A ENST00000334705.7 + 13 1381 c.1135G>A c.(1135-1137)Gca>Aca p.A379T FAM91A1_ENST00000521166.1_Missense_Mutation_p.A379T NM_144963.2 NP_659400.2 Q658Y4 F91A1_HUMAN family with sequence similarity 91, member A1 379 p.A379T(1) breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 28 Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00192) GAAGCGCATCGCATTCCTGTT 0.378000 14 40 0 0 1 0 0 UBE3C 9690 broad.mit.edu 37 7 156974894 156974894 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr7:156974894C>T ENST00000348165.5 + 8 1223 c.863C>T c.(862-864)gCg>gTg p.A288V UBE3C_ENST00000389103.4_Missense_Mutation_p.A245V NM_014671.2 NP_055486.2 Q15386 UBE3C_HUMAN ubiquitin protein ligase E3C 288 protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus|proteasome complex protein binding|ubiquitin-protein ligase activity central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1) 63 all_hematologic(28;0.0185)|all_epithelial(9;0.0664) OV - Ovarian serous cystadenocarcinoma(82;0.00448) UCEC - Uterine corpus endometrioid carcinoma (81;0.19) CTTGCAGATGCGCAGACCGTT 0.438000 18 84 0 0 1 0 0 FAM105A 54491 broad.mit.edu 37 5 14609046 14609046 + Missense_Mutation SNP T T C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr5:14609046T>C ENST00000274217.3 + 7 937 c.817T>C c.(817-819)Tcc>Ccc p.S273P NM_019018.2 NP_061891.1 Q9NUU6 F105A_HUMAN family with sequence similarity 105, member A 273 large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 Lung NSC(4;0.00592) ACTCCTGTTTTCCAGGGAGAC 0.413000 15 279 0 0 1 0 0 SUPT20H 55578 broad.mit.edu 37 13 37619400 37619400 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr13:37619400C>A ENST00000360252.4 - 6 526 c.279G>T c.(277-279)agG>agT p.R93S SUPT20H_ENST00000542180.1_Missense_Mutation_p.R80S|SUPT20H_ENST00000464744.1_Missense_Mutation_p.R93S|SUPT20H_ENST00000475892.1_Missense_Mutation_p.R92S|SUPT20H_ENST00000350612.6_Missense_Mutation_p.R92S|SUPT20H_ENST00000470359.2_5'UTR|SUPT20H_ENST00000356185.3_Missense_Mutation_p.R93S NM_001278481.1|NM_001278482.1|NM_017569.3 NP_001265410.1|NP_001265411.1|NP_060039.1 suppressor of Ty 20 homolog (S. cerevisiae) CGTTTTTTCCCCTGAGCATCA 0.408000 7 23 0.00307968 0.00321738 1 1 0 SNAPC4 6621 broad.mit.edu 37 9 139272678 139272678 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr9:139272678G>A ENST00000298532.2 - 21 3969 c.3601C>T c.(3601-3603)Cct>Tct p.P1201S NM_003086.2 NP_003077.2 Q5SXM2 SNPC4_HUMAN small nuclear RNA activating complex, polypeptide 4, 190kDa 1201 Pro-rich. snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter snRNA-activating protein complex DNA binding|sequence-specific DNA binding transcription factor activity biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1) 33 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06) CCGGACCAAGGGGGTTCTGCT 0.682000 18 8 0 0 1 0 0 RFPL4B 442247 broad.mit.edu 37 6 112671606 112671606 + Silent SNP T T C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr6:112671606T>C ENST00000441065.2 + 3 1008 c.696T>C c.(694-696)caT>caC p.H232H NM_001013734.2 NP_001013756.2 Q6ZWI9 RFPLB_HUMAN ret finger protein-like 4B 232 B30.2/SPRY. zinc ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1) 14 all_cancers(87;9.44e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00265)|Colorectal(196;0.0209) all cancers(137;0.0202)|OV - Ovarian serous cystadenocarcinoma(136;0.0477)|Epithelial(106;0.0646)|GBM - Glioblastoma multiforme(226;0.0866)|BRCA - Breast invasive adenocarcinoma(108;0.244) TCTATACACATGATGGTTTCT 0.463000 13 37 0 0 1 0 0 TDRD7 23424 broad.mit.edu 37 9 100245509 100245509 + Missense_Mutation SNP C C T rs146083361 byFrequency TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr9:100245509C>T ENST00000355295.4 + 15 3086 c.2791C>T c.(2791-2793)Cct>Tct p.P931S TDRD7_ENST00000422139.2_Missense_Mutation_p.P857S|TDRD7_ENST00000540902.1_Missense_Mutation_p.P251S NM_014290.2 NP_055105.2 Q8NHU6 TDRD7_HUMAN tudor domain containing 7 931 Interacts with CABLES1 (By similarity).|Interacts with CDK17 (By similarity). lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis chromatoid body mRNA binding endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Acute lymphoblastic leukemia(62;0.158) CGTCATCCAGCCTTGGCAGGA 0.498000 12 88 0 0 1 0 0 FAM124A 220108 broad.mit.edu 37 13 51825865 51825865 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr13:51825865G>A ENST00000322475.8 + 3 497 c.362G>A c.(361-363)cGc>cAc p.R121H FAM124A_ENST00000280057.6_Missense_Mutation_p.R157H NM_001242312.1 NP_001229241.1 Q86V42 F124A_HUMAN family with sequence similarity 124A 121 breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|skin(1) 26 Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;4.25e-07) CAGCTGCACCGCACACTGCAG 0.701000 3 8 0 0 1 0 0 ASTN1 460 broad.mit.edu 37 1 177133772 177133772 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:177133772C>A ENST00000367654.2 - 1 54 c.41G>T c.(40-42)tGg>tTg p.W14L ASTN1_ENST00000361833.2_Missense_Mutation_p.W14L|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000367657.3_Missense_Mutation_p.W14L|ASTN1_ENST00000424564.2_Missense_Mutation_p.W14L O14525 ASTN1_HUMAN astrotactin 1 14 cell migration|neuron cell-cell adhesion integral to membrane NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3) 153 CGCCGGCCCCCAGCAGCAGGC 0.697000 17 30 2.23348e-06 2.543e-06 1 1 0 SETDB2 83852 broad.mit.edu 37 13 50051129 50051129 + Missense_Mutation SNP A A T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr13:50051129A>T ENST00000354234.4 + 6 1729 c.823A>T c.(823-825)Agc>Tgc p.S275C SETDB2_ENST00000317257.8_Missense_Mutation_p.S287C|SETDB2_ENST00000258672.5_Missense_Mutation_p.S275C NM_001160308.1 NP_001153780.1 Q96T68 SETB2_HUMAN SET domain, bifurcated 2 287 cell division|chromosome segregation|heart looping|left/right axis specification|mitosis|negative regulation of transcription, DNA-dependent chromosome|nucleus DNA binding|histone methyltransferase activity (H3-K9 specific)|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 15 Lung NSC(96;0.000408)|Breast(56;0.00131)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;3.1e-09) CAACTTTTCCAGCATGTTTAC 0.408000 12 46 0 0 1 0 0 ATP1A1 476 broad.mit.edu 37 1 116941613 116941613 + Silent SNP C C T rs144039896 byFrequency TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:116941613C>T ENST00000537345.1 + 17 2718 c.2355C>T c.(2353-2355)ccC>ccT p.P785P ATP1A1_ENST00000295598.5_Silent_p.P785P|ATP1A1_ENST00000369496.4_Silent_p.P754P NM_001160233.1 NP_001153705.1 P05023 AT1A1_HUMAN ATPase, Na+/K+ transporting, alpha 1 polypeptide 785 ATP biosynthetic process melanosome|sodium:potassium-exchanging ATPase complex ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 47 Lung SC(450;0.225) all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05) Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24) Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021) GTAACATTCCCGAGATCACCC 0.413000 28 76 0 0 1 0 0 MAP3K13 9175 broad.mit.edu 37 3 185146649 185146649 + Nonsense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr3:185146649G>T ENST00000265026.3 + 2 614 c.280G>T c.(280-282)Gag>Tag p.E94* MAP3K13_ENST00000443863.1_Intron|MAP3K13_ENST00000446828.1_Intron|MAP3K13_ENST00000424227.1_Nonsense_Mutation_p.E94*|MAP3K13_ENST00000535426.1_Intron NM_004721.4 NP_004712.1 O43283 M3K13_HUMAN mitogen-activated protein kinase kinase kinase 13 94 activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation cytoplasm|membrane|membrane fraction ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 all_cancers(143;7.21e-11)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) CGATGAATCAGAGACGGCGGT 0.542000 14 75 2.23348e-06 2.543e-06 1 1 0 VCPKMT 79609 broad.mit.edu 37 14 50583090 50583090 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr14:50583090C>A ENST00000395860.2 - 1 185 c.181G>T c.(181-183)Gac>Tac p.D61Y METTL21D_ENST00000395859.2_Missense_Mutation_p.D61Y NM_024558.2 NP_078834.2 Q9H867 MT21D_HUMAN 61 methyltransferase activity kidney(1)|lung(1)|urinary_tract(1) 3 TGGGCCCCGTCGCCAGAAAAC 0.652000 24 15 1.32003e-05 1.46867e-05 1 1 0 PDGFD 80310 broad.mit.edu 37 11 103818454 103818454 + Splice_Site SNP T T C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:103818454T>C ENST00000302251.5 - 4 944 c.e4-2 PDGFD_ENST00000393158.2_Splice_Site NM_025208.4|NM_033135.3 NP_079484.1|NP_149126.1 Q9GZP0 PDGFD_HUMAN platelet derived growth factor D positive regulation of cell division endoplasmic reticulum lumen|extracellular region|Golgi membrane growth factor activity biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1) 23 Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165) BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111) GAAATCTTCCTGGAAGGCAAA 0.403000 15 55 0 0 1 0 0 NFASC 23114 broad.mit.edu 37 1 204926840 204926840 + Missense_Mutation SNP T T C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:204926840T>C ENST00000367172.4 + 8 920 c.592T>C c.(592-594)Tac>Cac p.Y198H NFASC_ENST00000403080.1_Missense_Mutation_p.Y198H|NFASC_ENST00000401399.1_Missense_Mutation_p.Y198H|NFASC_ENST00000539706.1_Missense_Mutation_p.Y192H|NFASC_ENST00000339876.6_Missense_Mutation_p.Y198H|NFASC_ENST00000360049.4_Missense_Mutation_p.Y192H|NFASC_ENST00000338515.6_Missense_Mutation_p.Y198H|NFASC_ENST00000367170.4_Missense_Mutation_p.Y198H|NFASC_ENST00000367171.4_Missense_Mutation_p.Y198H|NFASC_ENST00000513543.1_Missense_Mutation_p.Y192H|NFASC_ENST00000367169.4_Missense_Mutation_p.Y198H|NFASC_ENST00000404907.1_Missense_Mutation_p.Y192H|NFASC_ENST00000338586.6_Missense_Mutation_p.Y198H|NFASC_ENST00000404076.1_Missense_Mutation_p.Y192H O94856 NFASC_HUMAN neurofascin 198 Ig-like C2-type 2. axon guidance|cell adhesion|myelination|peripheral nervous system development integral to membrane|node of Ranvier|plasma membrane protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 81 all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) CGGAGACCTATACTTCTCCAA 0.512000 27 75 0 0 1 0 0 SASH3 54440 broad.mit.edu 37 X 128926649 128926649 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chrX:128926649G>T ENST00000356892.3 + 6 752 c.638G>T c.(637-639)tGg>tTg p.W213L NM_018990.3 NP_061863.1 O75995 SASH3_HUMAN SAM and SH3 domain containing 3 213 SH3. breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 12 GTGGGCACGTGGCTGGGCCTA 0.597000 25 66 5.77227e-19 8.38549e-19 1 1 0 SUN3 256979 broad.mit.edu 37 7 48033935 48033935 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr7:48033935C>A ENST00000453192.2 - 9 1045 c.802G>T c.(802-804)Gca>Tca p.A268S SUN3_ENST00000297325.4_Missense_Mutation_p.A280S|SUN3_ENST00000412142.1_Missense_Mutation_p.A180S|SUN3_ENST00000395572.2_Missense_Mutation_p.A280S|SUN3_ENST00000473723.1_5'UTR Q8TAQ9 SUN3_HUMAN Sad1 and UNC84 domain containing 3 280 SUN. integral to membrane central_nervous_system(1)|endometrium(3)|large_intestine(8)|liver(1)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 TCCTTGGGTGCACTGGAGATG 0.453000 48 70 6.87076e-12 8.95995e-12 1 1 0 PREB 10113 broad.mit.edu 37 2 27356445 27356445 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr2:27356445G>A ENST00000260643.2 - 2 533 c.280C>T c.(280-282)Cgc>Tgc p.R94C PREB_ENST00000416802.1_Intron|PREB_ENST00000406567.3_Missense_Mutation_p.R94C NM_013388.4 NP_037520.1 Q9HCU5 PREB_HUMAN prolactin regulatory element binding 94 COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent endoplasmic reticulum membrane|integral to membrane|nucleus DNA binding|guanyl-nucleotide exchange factor activity|protein binding cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1) 14 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GCCTGGAAGCGCAGGAGCTGA 0.592000 5 24 0 0 1 0 0 PAK4 10298 broad.mit.edu 37 19 39664005 39664005 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:39664005C>T ENST00000593690.1 + 5 1079 c.652C>T c.(652-654)Cgg>Tgg p.R218W PAK4_ENST00000435673.2_Missense_Mutation_p.R218W|PAK4_ENST00000358301.3_Missense_Mutation_p.R218W|PAK4_ENST00000599470.1_Intron|PAK4_ENST00000599386.1_Intron|PAK4_ENST00000321944.4_Intron|PAK4_ENST00000360442.3_Missense_Mutation_p.R218W NM_001014831.2 NP_001014831.1 O96013 PAK4_HUMAN p21 protein (Cdc42/Rac)-activated kinase 4 218 Linker. cellular component movement|signal transduction Golgi apparatus ATP binding|protein binding|protein serine/threonine kinase activity central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1) 13 all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454) Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113) CCACCCATCCCGGGGTGCCCA 0.706000 4 21 0 0 1 0 0 STOX2 56977 broad.mit.edu 37 4 184931701 184931701 + Silent SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr4:184931701C>T ENST00000308497.4 + 3 3145 c.1710C>T c.(1708-1710)tgC>tgT p.C570C STOX2_ENST00000438269.1_Silent_p.C570C NM_020225.1 NP_064610.1 Q9P2F5 STOX2_HUMAN storkhead box 2 570 embryo development|maternal placenta development breast(1)|endometrium(7)|lung(6) 14 all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283) all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227) CCAGCGCTTGCAGCCTTTTGG 0.493000 17 26 0 0 1 0 0 PAPPA2 60676 broad.mit.edu 37 1 176762729 176762729 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:176762729C>A ENST00000367662.3 + 20 6218 c.5054C>A c.(5053-5055)cCc>cAc p.P1685H NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 1685 Sushi 5. cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 GTAATCCCCCCCAGTGACCCC 0.468000 11 109 1.08611e-07 1.28488e-07 1 1 0 FOXB2 442425 broad.mit.edu 37 9 79635203 79635203 + Silent SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr9:79635203G>A ENST00000376708.1 + 1 633 c.633G>A c.(631-633)ccG>ccA p.P211P NM_001013735.1 NP_001013757.1 Q5VYV0 FOXB2_HUMAN forkhead box B2 211 brain development|embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding breast(1)|lung(8)|ovary(1) 10 CTCAGCAGCCGTCTCACCCCG 0.736000 5 24 0 0 1 0 0 ZNF354C 30832 broad.mit.edu 37 5 178489073 178489073 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr5:178489073G>A ENST00000315475.6 + 2 310 c.4G>A c.(4-6)Gct>Act p.A2T NM_014594.1 NP_055409.1 Q86Y25 Z354C_HUMAN zinc finger protein 354C 2 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3) 30 all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309) all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.247) GGAAGGGATGGCTGTGGATCT 0.527000 7 70 0 0 1 0 0 REPS1 85021 broad.mit.edu 37 6 139229850 139229850 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr6:139229850G>A ENST00000450536.2 - 18 2745 c.2171C>T c.(2170-2172)aCg>aTg p.T724M REPS1_ENST00000367663.4_Missense_Mutation_p.T697M|REPS1_ENST00000409812.2_Missense_Mutation_p.T633M|REPS1_ENST00000415951.2_Missense_Mutation_p.T665M|REPS1_ENST00000258062.5_Missense_Mutation_p.T723M Q96D71 REPS1_HUMAN RALBP1 associated Eps domain containing 1 724 Interaction with RALBP1 (By similarity). coated pit|plasma membrane calcium ion binding|SH3 domain binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2) 19 GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548) TAAGACACCCGTCTTTTGTGT 0.398000 38 33 0 0 1 0 0 SLC24A1 9187 broad.mit.edu 37 15 65946270 65946270 + Missense_Mutation SNP G G C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr15:65946270G>C ENST00000261892.6 + 10 3440 c.3153G>C c.(3151-3153)atG>atC p.M1051I SLC24A1_ENST00000449142.2_3'UTR|SLC24A1_ENST00000546330.1_Missense_Mutation_p.M1033I|SLC24A1_ENST00000537259.1_Intron|SLC24A1_ENST00000544319.2_Missense_Mutation_p.M937I|SLC24A1_ENST00000399033.4_Missense_Mutation_p.M1021I|SLC24A1_ENST00000339868.6_Missense_Mutation_p.M1033I NM_001254740.1|NM_004727.2 NP_001241669.1|NP_004718.1 O60721 NCKX1_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 1 1051 response to light intensity|visual perception integral to plasma membrane|membrane fraction|outer membrane calcium, potassium:sodium antiporter activity|protein binding|symporter activity breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 TTTTTCTCATGCTTCTGTTTG 0.398000 19 99 0 0 1 0 0 ZNF518A 9849 broad.mit.edu 37 10 97915953 97915953 + RNA SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr10:97915953G>T ENST00000534948.1 + 0 731 Q6AHZ1 Z518A_HUMAN zinc finger protein 518A regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2) 24 Colorectal(252;0.0815) Epithelial(162;4.23e-08)|all cancers(201;1.85e-06) TTTAATTTTAGGTGAGTTATT 0.279000 5 12 0.014758 0.0151151 1 1 0 ZNF750 79755 broad.mit.edu 37 17 80788197 80788197 + Missense_Mutation SNP G G C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr17:80788197G>C ENST00000269394.3 - 3 2826 c.1993C>G c.(1993-1995)Caa>Gaa p.Q665E TBCD_ENST00000539345.2_Intron|TBCD_ENST00000397466.2_Intron|ZNF750_ENST00000572562.1_Missense_Mutation_p.Q266E|TBCD_ENST00000355528.4_Intron NM_024702.2 NP_078978.2 Q32MQ0 ZN750_HUMAN zinc finger protein 750 665 intracellular zinc ion binding NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 31 Breast(20;0.000523)|all_neural(118;0.0779) all_cancers(8;0.0514)|all_epithelial(8;0.0748) OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149) GGTGTGTCTTGCCGGCAGGCA 0.632000 66 59 0 0 1 0 0 EIF2AK1 27102 broad.mit.edu 37 7 6085729 6085729 + Silent SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr7:6085729C>T ENST00000199389.6 - 6 749 c.603G>A c.(601-603)aaG>aaA p.K201K EIF2AK1_ENST00000495565.1_5'UTR|EIF2AK1_ENST00000536084.1_Silent_p.K77K NM_001134335.1|NM_014413.3 NP_001127807.1|NP_055228.2 Q9BQI3 E2AK1_HUMAN eukaryotic translation initiation factor 2-alpha kinase 1 201 Protein kinase. negative regulation of hemoglobin biosynthetic process|negative regulation of translational initiation by iron|protein autophosphorylation|response to external stimulus|response to stress cytoplasm ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|heme binding|protein homodimerization activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2) 27 Ovarian(82;0.0423) UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14) TAGTTGCACCCTTAATCAGGA 0.249000 4 12 0 0 1 0 0 CCDC94 55702 broad.mit.edu 37 19 4258387 4258387 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:4258387G>T ENST00000262962.7 + 5 622 c.554G>T c.(553-555)aGg>aTg p.R185M NM_018074.4 NP_060544.2 Q9BW85 CCD94_HUMAN coiled-coil domain containing 94 185 NS(1)|endometrium(1)|lung(2)|ovary(1)|stomach(2) 7 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0348)|STAD - Stomach adenocarcinoma(1328;0.183) GAGCGGCGGAGGCAGCAGCAG 0.697000 4 8 0.184627 0.185704 1 1 0 RYR1 6261 broad.mit.edu 37 19 38948884 38948884 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:38948884G>A ENST00000355481.4 + 18 2250 c.2119G>A c.(2119-2121)Ggc>Agc p.G707S RYR1_ENST00000360985.3_Missense_Mutation_p.G707S|RYR1_ENST00000359596.3_Missense_Mutation_p.G707S NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 707 B30.2/SPRY 1. 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) CAACGGGGTCGGCGATGACCT 0.657000 38 134 0 0 1 0 0 PDGFRA 5156 broad.mit.edu 37 4 55133807 55133807 + Silent SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr4:55133807G>T ENST00000257290.5 + 7 1351 c.1020G>T c.(1018-1020)cgG>cgT p.R340R FIP1L1_ENST00000507166.1_Intron NM_006206.4 NP_006197.1 P16234 PGFRA_HUMAN platelet-derived growth factor receptor, alpha polypeptide 340 Ig-like C2-type 4. cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1) 967 all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08) GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256) Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268) TAGAGGTGCGGGCCTACCCAC 0.438000 """Mis, O, T""" FIP1L1 """GIST, idiopathic hypereosinophilic syndrome, paediatric GBM""" Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis TSP Lung(21;0.16) 12 42 5.50884e-06 6.18744e-06 1 1 0 PPM1N 147699 broad.mit.edu 37 19 46002352 46002352 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:46002352C>T ENST00000324688.4 + 1 488 c.388C>T c.(388-390)Cgc>Tgc p.R130C PPM1N_ENST00000456399.2_Intron|PPM1N_ENST00000401705.1_Intron|PPM1N_ENST00000396737.2_Intron|PPM1N_ENST00000451287.2_Missense_Mutation_p.R208C Q8N819 PPM1N_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1N (putative) 208 PP2C-like. magnesium ion binding|manganese ion binding|phosphoprotein phosphatase activity NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6) 9 ACCCCGGGAACGCGAGCGCAT 0.721000 7 14 0 0 1 0 0 FOXC2 2303 broad.mit.edu 37 16 86601093 86601093 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr16:86601093G>T ENST00000320354.4 + 1 237 c.152G>T c.(151-153)gGg>gTg p.G51V RP11-463O9.5_ENST00000563280.1_RNA NM_005251.2 NP_005242.1 Q99958 FOXC2_HUMAN forkhead box C2 (MFH-1, mesenchyme forkhead 1) 51 anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|embryonic viscerocranium morphogenesis|insulin receptor signaling pathway|lymphangiogenesis|metanephros development|negative regulation of transcription from RNA polymerase II promoter|neural crest cell fate commitment|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of cell adhesion mediated by integrin|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vascular wound healing|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis transcription factor complex chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding|transcription regulatory region DNA binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 15 TACAGCGCGGGGATGGGCCGC 0.677000 Late-onset Hereditary Lymphedema 13 22 7.03913e-09 8.50688e-09 1 1 0 MUC17 140453 broad.mit.edu 37 7 100683692 100683692 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr7:100683692G>T ENST00000306151.4 + 3 9059 c.8995G>T c.(8995-8997)Gtg>Ttg p.V2999L NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 2999 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) CACCATGCCGGTGGCCAGTTC 0.502000 233 264 4.88213e-118 7.97568e-118 1 1 0 FAHD2B 151313 broad.mit.edu 37 2 97751935 97751935 + Splice_Site SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr2:97751935C>A ENST00000414820.1 - 5 733 c.462_splice c.e5-1 p.E155_splice FAHD2B_ENST00000440566.2_Splice_Site_p.E155_splice|FAHD2B_ENST00000272610.3_Splice_Site_p.E155_splice Q6P2I3 FAH2B_HUMAN fumarylacetoacetate hydrolase domain containing 2B 155 hydrolase activity|metal ion binding kidney(5)|large_intestine(2)|lung(3)|skin(2) 12 CAATCTACCTCCTGTAGGGTG 0.567000 7 17 0.00448238 0.00467627 1 1 0 NPAS3 64067 broad.mit.edu 37 14 34145460 34145460 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr14:34145460G>T ENST00000346562.2 + 5 580 c.506G>T c.(505-507)gGa>gTa p.G169V NPAS3_ENST00000551492.1_Missense_Mutation_p.G206V|NPAS3_ENST00000548645.1_Missense_Mutation_p.G171V|NPAS3_ENST00000357798.5_Missense_Mutation_p.G188V|NPAS3_ENST00000341321.4_Missense_Mutation_p.G201V|NPAS3_ENST00000551008.1_Missense_Mutation_p.G99V|NPAS3_ENST00000356141.4_Missense_Mutation_p.G201V|NPAS3_ENST00000547068.1_Missense_Mutation_p.G97V NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2 NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1 Q8IXF0 NPAS3_HUMAN neuronal PAS domain protein 3 201 PAS 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 40 Breast(36;0.0102)|Hepatocellular(127;0.133) LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968) GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115) GTCCACCCCGGAGATCACGTG 0.577000 26 51 1.77063e-15 2.46832e-15 1 1 0 LILRA6 79168 broad.mit.edu 37 19 54744761 54744761 + Missense_Mutation SNP T T C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:54744761T>C ENST00000440558.2 - 5 949 c.901A>G c.(901-903)Aac>Gac p.N301D LILRA6_ENST00000419410.2_Missense_Mutation_p.N301D|LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000245621.5_Missense_Mutation_p.N301D|LILRA6_ENST00000396365.2_Missense_Mutation_p.N301D|LILRA6_ENST00000270464.5_Intron|LILRA6_ENST00000391735.3_3'UTR leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6 central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2) 38 all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) GAGGAGAGGTTGTGTGCACCA 0.682000 20 134 0 0 1 0 0 OGN 4969 broad.mit.edu 37 9 95152234 95152234 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr9:95152234G>T ENST00000262551.4 - 5 952 c.532C>A c.(532-534)Caa>Aaa p.Q178K OGN_ENST00000375561.5_Missense_Mutation_p.Q178K|CENPP_ENST00000375587.3_Intron|OGN_ENST00000468743.1_5'UTR NM_033014.2 NP_148935.1 P20774 MIME_HUMAN osteoglycin 178 extracellular space|proteinaceous extracellular matrix growth factor activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1) 13 TTTAGTAGTTGATTTTCAGCA 0.323000 17 38 4.14922e-12 5.42032e-12 1 1 0 CLEC16A 23274 broad.mit.edu 37 16 11114171 11114171 + Silent SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr16:11114171G>A ENST00000409790.1 + 12 1655 c.1425G>A c.(1423-1425)acG>acA p.T475T CLEC16A_ENST00000409552.3_Silent_p.T457T NM_015226.2 NP_056041.1 Q2KHT3 CL16A_HUMAN C-type lectin domain family 16, member A 475 p.0?(1) breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 CTGAGAGCACGCAATGGAGCA 0.637000 10 18 0 0 1 0 0 OR5AP2 338675 broad.mit.edu 37 11 56409692 56409692 + Missense_Mutation SNP A A G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:56409692A>G ENST00000544374.1 - 1 255 c.227T>C c.(226-228)gTa>gCa p.V76A OR5AP2_ENST00000302981.1_Missense_Mutation_p.V75A Q8NGF4 O5AP2_HUMAN olfactory receptor, family 5, subfamily AP, member 2 75 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 29 AGAGGCATCTACAAAAGAGAG 0.448000 17 42 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152623052 152623052 + Silent SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr6:152623052C>A ENST00000367255.5 - 92 18094 c.17493G>T c.(17491-17493)ctG>ctT p.L5831L SYNE1_ENST00000448038.1_Silent_p.L5760L|SYNE1_ENST00000341594.5_Silent_p.L5443L|SYNE1_ENST00000265368.4_Silent_p.L5831L|SYNE1_ENST00000423061.1_Silent_p.L5760L|SYNE1_ENST00000356820.4_Silent_p.L355L NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 5831 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) GCTCCCCATCCAGGTCCTCTG 0.622000 HNSCC(10;0.0054) 12 23 5.16669e-11 6.62222e-11 1 1 0 INSR 3643 broad.mit.edu 37 19 7267435 7267435 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:7267435C>A ENST00000341500.5 - 2 612 c.573G>T c.(571-573)aaG>aaT p.K191N INSR_ENST00000302850.5_Missense_Mutation_p.K191N NM_001079817.1 NP_001073285.1 P06213 INSR_HUMAN insulin receptor 191 Cys-rich. activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus caveola|endosome membrane|insulin receptor complex|microsome ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding p.K191K(2) breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2) 66 Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) TGGTCTTGCCCTTCGCGGTAC 0.542000 19 53 3.99206e-14 5.43007e-14 1 1 0 SLC6A17 388662 broad.mit.edu 37 1 110734625 110734625 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:110734625G>A ENST00000331565.4 + 7 1381 c.896G>A c.(895-897)cGg>cAg p.R299Q NM_001010898.2 NP_001010898.1 Q9H1V8 S6A17_HUMAN solute carrier family 6 (neutral amino acid transporter), member 17 299 alanine transport|glycine transport|leucine transport|proline transport cell junction|integral to plasma membrane|synaptic vesicle membrane neurotransmitter:sodium symporter activity breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 37 all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233) Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151) CAGGTGTGGCGGGAGGCAGCT 0.537000 17 61 0 0 1 0 0 GPATCH2 55105 broad.mit.edu 37 1 217793634 217793634 + Silent SNP T T C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:217793634T>C ENST00000366935.3 - 2 374 c.264A>G c.(262-264)ttA>ttG p.L88L GPATCH2_ENST00000366934.3_Silent_p.L88L NM_018040.2 NP_060510.1 Q9NW75 GPTC2_HUMAN G patch domain containing 2 88 intracellular nucleic acid binding NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1) 35 OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872) AGCCTTCACTTAAGCAGTGAC 0.428000 11 70 0 0 1 0 0 KCNT2 343450 broad.mit.edu 37 1 196434518 196434518 + Splice_Site SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:196434518C>A ENST00000367433.5 - 8 645 c.e8-1 KCNT2_ENST00000451324.2_Splice_Site|KCNT2_ENST00000294725.8_Splice_Site|KCNT2_ENST00000367431.4_Splice_Site Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1) 97 GTAGATCATTCTAAAATAATA 0.294000 4 90 0.00909568 0.00937143 1 1 0 CD163 9332 broad.mit.edu 37 12 7639979 7639979 + Missense_Mutation SNP G G C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr12:7639979G>C ENST00000359156.4 - 8 2228 c.2026C>G c.(2026-2028)Caa>Gaa p.Q676E CD163_ENST00000432237.2_Missense_Mutation_p.Q676E|CD163_ENST00000541972.1_Missense_Mutation_p.Q664E|CD163_ENST00000396620.3_Missense_Mutation_p.Q709E NM_004244.5 NP_004235.4 Q86VB7 C163A_HUMAN CD163 molecule 676 SRCR 6. acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4) 76 GAGGCCACTTGCTCTGAAGGA 0.483000 11 43 0 0 1 0 0 PNLIP 5406 broad.mit.edu 37 10 118307992 118307992 + Nonsense_Mutation SNP A A T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr10:118307992A>T ENST00000369221.2 + 4 350 c.322A>T c.(322-324)Aag>Tag p.K108* PNLIP_ENST00000470562.1_3'UTR NM_000936.2 NP_000927.1 P16233 LIPP_HUMAN pancreatic lipase 108 lipid catabolic process|retinoid metabolic process|steroid metabolic process extracellular region retinyl-palmitate esterase activity|triglyceride lipase activity central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 43 all cancers(201;0.0131) Bentiromide(DB00522)|Orlistat(DB01083) CAATGTGTGCAAGGTGAGATG 0.438000 31 96 0 0 1 0 0 DLAT 1737 broad.mit.edu 37 11 111899574 111899574 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:111899574C>A ENST00000280346.6 + 4 1224 c.565C>A c.(565-567)Cca>Aca p.P189T DLAT_ENST00000393051.1_Missense_Mutation_p.P189T|DLAT_ENST00000537636.1_Intron NM_001931.4 NP_001922.2 P10515 ODP2_HUMAN dihydrolipoamide S-acetyltransferase 189 glycolysis|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial pyruvate dehydrogenase complex dihydrolipoyllysine-residue acetyltransferase activity|protein binding breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1) 22 all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663) Epithelial(105;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557) NADH(DB00157) AGCACCTACCCCACAAGCGGC 0.512000 11 168 0.000673444 0.000712181 1 1 0 PKD1 5310 broad.mit.edu 37 16 2155885 2155885 + Missense_Mutation SNP A A G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr16:2155885A>G ENST00000262304.4 - 20 8052 c.7844T>C c.(7843-7845)cTg>cCg p.L2615P PKD1_ENST00000423118.1_Missense_Mutation_p.L2615P|PKD1_ENST00000561991.1_5'UTR NM_001009944.2 NP_001009944.2 P98161 PKD1_HUMAN polycystic kidney disease 1 (autosomal dominant) 2615 REJ. calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway basolateral plasma membrane|integral to plasma membrane protein domain specific binding|sugar binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 72 CACGGTGACCAGGGCCAACGA 0.647000 7 53 0 0 1 0 0 OR1J2 26740 broad.mit.edu 37 9 125273653 125273653 + Missense_Mutation SNP T T G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr9:125273653T>G ENST00000335302.5 + 1 573 c.573T>G c.(571-573)gaT>gaG p.D191E NM_054107.1 NP_473448.1 Q8NGS2 OR1J2_HUMAN olfactory receptor, family 1, subfamily J, member 2 191 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1) 26 CCTGCTCAGATATCTTCCTCA 0.532000 38 59 0 0 1 0 0 ADCK3 56997 broad.mit.edu 37 1 227170666 227170666 + Silent SNP C C T rs36006006 TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:227170666C>T ENST00000366779.1 + 13 3782 c.1011C>T c.(1009-1011)gcC>gcT p.A337A ADCK3_ENST00000478406.1_3'UTR|ADCK3_ENST00000458507.2_Silent_p.A58A|ADCK3_ENST00000366776.1_Silent_p.A262A|ADCK3_ENST00000433743.2_Intron|ADCK3_ENST00000366777.3_Silent_p.A337A|ADCK3_ENST00000366775.1_Silent_p.A182A|ADCK3_ENST00000366778.1_Silent_p.A285A Q8NI60 ADCK3_HUMAN aarF domain containing kinase 3 337 Protein kinase. cell death mitochondrion ATP binding|protein serine/threonine kinase activity endometrium(1)|kidney(2)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2) 9 GGCCCTTCGCCGCCGCATCCA 0.642000 4 10 0 0 1 0 0 PTGER2 5732 broad.mit.edu 37 14 52782049 52782049 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr14:52782049C>A ENST00000245457.5 + 1 937 c.783C>A c.(781-783)gaC>gaA p.D261E PTGER2_ENST00000557436.1_Missense_Mutation_p.D6E NM_000956.3 NP_000947.2 P43116 PE2R2_HUMAN prostaglandin E receptor 2 (subtype EP2), 53kDa 261 integral to plasma membrane prostaglandin E receptor activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 15 Breast(41;0.0639)|all_epithelial(31;0.0729) Alprostadil(DB00770)|Iloprost(DB01088) AGGAGACGGACCACCTCATTC 0.652000 15 25 0.0285812 0.0291929 1 1 0 PTPRM 5797 broad.mit.edu 37 18 8085781 8085781 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr18:8085781C>T ENST00000332175.8 + 10 2701 c.1664C>T c.(1663-1665)cCg>cTg p.P555L PTPRM_ENST00000400053.4_Missense_Mutation_p.P493L|PTPRM_ENST00000400060.4_Missense_Mutation_p.P555L|PTPRM_ENST00000578571.1_3'UTR|PTPRM_ENST00000580170.1_Missense_Mutation_p.P555L|PTPRM_ENST00000444013.1_Missense_Mutation_p.P342L NM_002845.3 NP_002836.3 P28827 PTPRM_HUMAN protein tyrosine phosphatase, receptor type, M 555 Fibronectin type-III 3. homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm cadherin binding|transmembrane receptor protein tyrosine phosphatase activity breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 90 Colorectal(10;0.234) GGACTGTATCCGGGGACCACA 0.443000 11 71 0 0 1 0 0 MUC2 4583 broad.mit.edu 37 11 1086417 1086417 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:1086417C>A ENST00000441003.2 + 23 3153 c.3126C>A c.(3124-3126)caC>caA p.H1042Q MUC2_ENST00000359061.5_Missense_Mutation_p.H1042Q NM_002457.2 NP_002448.2 Q02817 MUC2_HUMAN mucin 2, oligomeric mucus/gel-forming 1042 VWFD 3. inner mucus layer|outer mucus layer protein binding NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 102 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) TGAACCCGCACCGCCGCTCCT 0.652000 4 9 0.000602214 0.000639568 1 1 0 RGS18 64407 broad.mit.edu 37 1 192129557 192129557 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:192129557C>T ENST00000367460.3 + 3 452 c.271C>T c.(271-273)Ctt>Ttt p.L91F RGS18_ENST00000481707.1_3'UTR NM_130782.2 NP_570138.1 Q9NS28 RGS18_HUMAN regulator of G-protein signaling 18 91 RGS. negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity kidney(1)|large_intestine(2)|lung(15)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 TGACAAACTGCTTTCCCATAG 0.368000 6 42 0 0 1 0 0 CCDC74B 91409 broad.mit.edu 37 2 130900779 130900779 + Missense_Mutation SNP T T C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr2:130900779T>C ENST00000409234.3 - 2 444 c.358A>G c.(358-360)Act>Gct p.T120A CCDC74B_ENST00000409128.1_Intron|CCDC74B_ENST00000310463.6_Intron|CCDC74B_ENST00000409943.3_Intron|CCDC74B_ENST00000392984.3_5'UTR Q96LY2 CC74B_HUMAN coiled-coil domain containing 74B 264 endometrium(2)|large_intestine(1)|lung(3) 6 Colorectal(110;0.1) GCAAGGACAGTCTGGAGGGGC 0.582000 9 27 0 0 1 0 0 MYO1G 64005 broad.mit.edu 37 7 45015169 45015169 + Missense_Mutation SNP T T A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr7:45015169T>A ENST00000258787.7 - 4 614 c.478A>T c.(478-480)Agc>Tgc p.S160C NM_033054.2 NP_149043.2 B0I1T2 MYO1G_HUMAN myosin IG 160 Myosin head-like. myosin complex|plasma membrane actin binding|ATP binding|calmodulin binding|motor activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4) 28 CCAAAGCGGCTGGAGTTGTGA 0.592000 14 23 0 0 1 0 0 CSPG4 1464 broad.mit.edu 37 15 75982102 75982102 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr15:75982102C>A ENST00000308508.5 - 3 1396 c.1304G>T c.(1303-1305)aGc>aTc p.S435I NM_001897.4 NP_001888.2 Q6UVK1 CSPG4_HUMAN chondroitin sulfate proteoglycan 4 435 Globular or compact configuration stabilized by disulfide bonds.|Neurite growth inhibition (By similarity). angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane protein kinase binding|signal transducer activity breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4) 48 CACCAGTGGGCTGATAGTCAG 0.647000 6 77 3.09899e-07 3.62599e-07 1 1 0 MCF2L2 23101 broad.mit.edu 37 3 183059375 183059375 + Silent SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr3:183059375G>T ENST00000328913.3 - 4 616 c.319C>A c.(319-321)Cga>Aga p.R107R MCF2L2_ENST00000447025.2_Silent_p.R107R|MCF2L2_ENST00000473233.1_Silent_p.R107R|MCF2L2_ENST00000414362.2_Silent_p.R107R NM_015078.2 NP_055893.2 Q86YR7 MF2L2_HUMAN MCF.2 cell line derived transforming sequence-like 2 107 CRAL-TRIO. regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 all_cancers(143;1.26e-12)|Ovarian(172;0.0355) all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21) TTGTCTCTTCGTCTGTCGATA 0.413000 17 46 4.7546e-09 5.78967e-09 1 1 0 ATP1A2 477 broad.mit.edu 37 1 160097563 160097563 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:160097563G>A ENST00000361216.3 + 8 1059 c.970G>A c.(970-972)Ggc>Agc p.G324S ATP1A2_ENST00000472488.1_3'UTR|ATP1A2_ENST00000392233.3_Missense_Mutation_p.G324S NM_000702.3 NP_000693.1 P50993 AT1A2_HUMAN ATPase, Na+/K+ transporting, alpha 2 polypeptide 324 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) CTTCCTCATCGGCATCATAGT 0.597000 21 169 0 0 1 0 0 STPG2 285555 broad.mit.edu 37 4 98480250 98480250 + Nonsense_Mutation SNP T T A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr4:98480250T>A ENST00000295268.3 - 11 1428 c.1339A>T c.(1339-1341)Aaa>Taa p.K447* RP11-681L8.1_ENST00000518105.1_RNA|STPG2_ENST00000506482.1_Intron NM_174952.2 NP_777612.1 sperm-tail PG-rich repeat containing 2 AGATTTCCTTTCTTTTTCTCC 0.274000 17 64 0 0 1 0 0 SPATA31E1 286234 broad.mit.edu 37 9 90500685 90500685 + Missense_Mutation SNP T T C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr9:90500685T>C ENST00000325643.5 + 4 1349 c.1283T>C c.(1282-1284)gTg>gCg p.V428A NM_178828.4 NP_849150.3 SPATA31 subfamily E, member 1 GCCACAACCGTGGGGAACCAC 0.577000 65 121 0 0 1 0 0 FCGRT 2217 broad.mit.edu 37 19 50027791 50027791 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:50027791G>T ENST00000221466.5 + 5 1115 c.629G>T c.(628-630)cGa>cTa p.R210L FCGRT_ENST00000596975.1_Missense_Mutation_p.R118L|FCGRT_ENST00000594823.1_3'UTR|FCGRT_ENST00000426395.3_Missense_Mutation_p.R210L|FCGRT_ENST00000599988.1_Intron NM_001136019.2 NP_001129491.1 P55899 FCGRN_HUMAN Fc fragment of IgG, receptor, transporter, alpha 210 Alpha-3. antigen processing and presentation|female pregnancy|immune response integral to membrane|MHC class I protein complex IgG binding|receptor activity endometrium(3)|kidney(2)|lung(1)|ovary(1)|prostate(1)|skin(1) 9 all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00291)|GBM - Glioblastoma multiforme(134;0.0156) CTGAAGGCCCGACCCAGCAGC 0.647000 28 62 1.88708e-17 2.70462e-17 1 1 0 KCNH5 27133 broad.mit.edu 37 14 63447966 63447966 + Nonsense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr14:63447966G>T ENST00000322893.7 - 6 834 c.566C>A c.(565-567)tCa>tAa p.S189* KCNH5_ENST00000394968.1_Nonsense_Mutation_p.S131*|KCNH5_ENST00000394964.2_Nonsense_Mutation_p.S131*|KCNH5_ENST00000420622.2_Nonsense_Mutation_p.S189* NM_139318.3 NP_647479.2 Q8NCM2 KCNH5_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 5 189 regulation of transcription, DNA-dependent integral to membrane calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2) 99 OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168) AAGGATATCTGATCCCAGCTG 0.373000 15 43 0.000422831 0.000451839 1 1 0 MYLK 4638 broad.mit.edu 37 3 123512631 123512631 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr3:123512631C>T ENST00000360772.3 - 5 436 c.58G>A c.(58-60)Gat>Aat p.D20N MYLK_ENST00000359169.1_Missense_Mutation_p.D20N|MYLK_ENST00000475616.1_Missense_Mutation_p.D20N|MYLK_ENST00000360304.3_Missense_Mutation_p.D20N|MYLK_ENST00000346322.5_Missense_Mutation_p.D20N Q15746 MYLK_HUMAN myosin light chain kinase 20 aorta smooth muscle tissue morphogenesis|muscle contraction cytosol actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 113 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) CTTGAGGGATCCACACTGAGG 0.532000 15 47 0 0 1 0 0 DLG2 1740 broad.mit.edu 37 11 83676388 83676388 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:83676388C>A ENST00000398309.2 - 8 1335 c.865G>T c.(865-867)Ggt>Tgt p.G289C DLG2_ENST00000543673.1_Missense_Mutation_p.G394C|DLG2_ENST00000537455.1_Missense_Mutation_p.G43C|DLG2_ENST00000376104.2_Missense_Mutation_p.G394C|DLG2_ENST00000398301.2_Missense_Mutation_p.G328C|DLG2_ENST00000524982.1_Missense_Mutation_p.G289C|DLG2_ENST00000376106.3_5'UTR|DLG2_ENST00000280241.8_Missense_Mutation_p.G328C|DLG2_ENST00000418306.2_Missense_Mutation_p.G238C|DLG2_ENST00000532653.1_Missense_Mutation_p.G289C|DLG2_ENST00000330014.6_Missense_Mutation_p.G228C|DLG2_ENST00000531015.1_Missense_Mutation_p.G256C NM_001364.3 NP_001355.2 Q15700 DLG2_HUMAN discs, large homolog 2 (Drosophila) 289 cell junction|postsynaptic density|postsynaptic membrane guanylate kinase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 71 all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036) TCAGGTGGACCATAAGGATCA 0.368000 23 106 2.39556e-15 3.32503e-15 1 1 0 OTOP1 133060 broad.mit.edu 37 4 4199545 4199545 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr4:4199545G>T ENST00000296358.4 - 5 1040 c.1016C>A c.(1015-1017)tCc>tAc p.S339Y NM_177998.1 NP_819056.1 Q7RTM1 OTOP1_HUMAN otopetrin 1 339 biomineral tissue development extracellular space|integral to membrane NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 34 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) CTTGGTCTTGGAGCGCCCAAT 0.577000 19 45 1.55795e-14 2.13078e-14 1 1 0 IGSF10 285313 broad.mit.edu 37 3 151161336 151161336 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr3:151161336G>A ENST00000282466.3 - 5 5398 c.5399C>T c.(5398-5400)aCg>aTg p.T1800M NM_001178145.1|NM_001178146.1|NM_178822.4 NP_001171616.1|NP_001171617.1|NP_849144.2 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 1800 Ig-like C2-type 4. cell differentiation|multicellular organismal development|ossification extracellular region NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3) 116 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) TCCGTCAACCGTCACCACAGC 0.507000 17 40 0 0 1 0 0 GSE1 23199 broad.mit.edu 37 16 85689989 85689989 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr16:85689989G>A ENST00000253458.7 + 7 1206 c.1030G>A c.(1030-1032)Gag>Aag p.E344K GSE1_ENST00000405402.2_Missense_Mutation_p.E240K|GSE1_ENST00000393243.1_Missense_Mutation_p.E271K NM_014615.2 NP_055430.1 Gse1 coiled-coil protein gagggagcgcgagcgcgagcg 0.657000 9 11 0 0 1 0 0 ZNF428 126299 broad.mit.edu 37 19 44112128 44112128 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:44112128G>A ENST00000300811.3 - 3 654 c.208C>T c.(208-210)Cgc>Tgc p.R70C SRRM5_ENST00000607544.1_Intron|SRRM5_ENST00000526798.1_Intron NM_182498.3 NP_872304.2 Q96B54 ZN428_HUMAN zinc finger protein 428 70 Glu-rich. intracellular zinc ion binding endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1) 5 Prostate(69;0.0153) CCGCCAAGGCGCTGCTTCACC 0.662000 3 11 0 0 1 0 0 AKNA 80709 broad.mit.edu 37 9 117103959 117103959 + Silent SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr9:117103959G>A ENST00000307564.4 - 21 4082 c.3921C>T c.(3919-3921)agC>agT p.S1307S AKNA_ENST00000374079.4_Silent_p.S252S|AKNA_ENST00000374075.5_Silent_p.S1226S|AKNA_ENST00000374088.3_Silent_p.S1307S|AKNA_ENST00000492875.1_5'UTR|AKNA_ENST00000223791.3_Silent_p.S767S NM_030767.4 NP_110394.3 Q7Z591 AKNA_HUMAN AT-hook transcription factor 1307 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2) 51 TCTGCTTGGGGCTGGGAGTTG 0.627000 10 82 0 0 1 0 0 FBXL13 222235 broad.mit.edu 37 7 102604004 102604004 + Silent SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr7:102604004G>T ENST00000393772.2 - 8 1126 c.700C>A c.(700-702)Cga>Aga p.R234R FBXL13_ENST00000313221.4_Silent_p.R234R|FBXL13_ENST00000456695.1_Silent_p.R234R|FBXL13_ENST00000455112.2_Silent_p.R234R|FBXL13_ENST00000436908.1_Silent_p.R234R|FBXL13_ENST00000471074.1_5'UTR|FBXL13_ENST00000379306.3_Silent_p.R234R|FBXL13_ENST00000379305.3_Silent_p.R234R|FBXL13_ENST00000379308.3_Silent_p.R234R Q8NEE6 FXL13_HUMAN F-box and leucine-rich repeat protein 13 234 NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1) 27 GTTTTGGGTCGGAGAAGACAA 0.338000 6 62 2.7689e-08 3.31942e-08 1 1 0 PLXNB1 5364 broad.mit.edu 37 3 48454014 48454014 + Nonsense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr3:48454014C>A ENST00000358536.4 - 26 5139 c.4870G>T c.(4870-4872)Gag>Tag p.E1624* PLXNB1_ENST00000296440.6_Nonsense_Mutation_p.E1624*|PLXNB1_ENST00000456774.1_Nonsense_Mutation_p.E1441*|PLXNB1_ENST00000358459.4_Nonsense_Mutation_p.E1441*|PLXNB1_ENST00000448774.2_Nonsense_Mutation_p.E235* NM_002673.4 NP_002664.2 O43157 PLXB1_HUMAN plexin B1 1624 axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 47 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) CGCTGGCTCTCCAGCGTGTGG 0.592000 20 19 1.2644e-06 1.45829e-06 1 1 0 NFATC1 4772 broad.mit.edu 37 18 77246411 77246411 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr18:77246411G>A ENST00000253506.5 + 9 2625 c.2256G>A c.(2254-2256)ccG>ccA p.752_752insP NFATC1_ENST00000397790.2_Missense_Mutation_p.280_280insP|NFATC1_ENST00000318065.5_Missense_Mutation_p.739_739insP|NFATC1_ENST00000427363.2_Silent_p.P752P|NFATC1_ENST00000542384.1_Intron|NFATC1_ENST00000545796.1_Silent_p.P280P|NFATC1_ENST00000329101.4_Silent_p.P739P|NFATC1_ENST00000586434.1_Intron NM_006162.3 NP_006153.2 O95644 NFAC1_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1 0 Trans-activation domain B (TAD-B). intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleus FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1) 40 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257) CGCCCTGTCCGCAGAGAAGCA 0.677000 48 132 0 0 1 0 0 KIF2B 84643 broad.mit.edu 37 17 51901000 51901000 + Silent SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr17:51901000G>A ENST00000268919.4 + 1 762 c.606G>A c.(604-606)aaG>aaA p.K202K NM_032559.4 NP_115948.4 Q8N4N8 KIF2B_HUMAN kinesin family member 2B 202 blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle ATP binding|microtubule motor activity NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 ACAGCAGCAAGATCTCAGTCC 0.542000 21 52 0 0 1 0 0 ITGAM 3684 broad.mit.edu 37 16 31332665 31332665 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr16:31332665G>T ENST00000544665.3 + 15 1885 c.1814G>T c.(1813-1815)gGa>gTa p.G605V ITGAM_ENST00000287497.8_Missense_Mutation_p.G604V NM_000632.3|NM_001145808.1 NP_000623.2|NP_001139280.1 P11215 ITAM_HUMAN integrin, alpha M (complement component 3 receptor 3 subunit) 604 blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration integrin complex glycoprotein binding|receptor activity endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1) 56 CTGACTGTAGGAGCCCAGGGG 0.547000 52 136 4.01344e-20 5.92246e-20 1 1 0 FAM53A 152877 broad.mit.edu 37 4 1643057 1643057 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr4:1643057C>A ENST00000308132.6 - 5 1352 c.1160G>T c.(1159-1161)cGc>cTc p.R387L FAM53A_ENST00000461064.1_Missense_Mutation_p.R387L|FAM53A_ENST00000472884.2_Missense_Mutation_p.R387L|FAM53A_ENST00000489363.1_3'UTR NM_001174070.1 NP_001167541.1 Q6NSI3 FA53A_HUMAN family with sequence similarity 53, member A 387 nucleus breast(2)|central_nervous_system(2)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 10 all_epithelial(65;0.206)|Breast(71;0.212) OV - Ovarian serous cystadenocarcinoma(23;0.0145) CAGCTCCCAGCGGGCCCGGGG 0.701000 23 45 1.10923e-09 1.37307e-09 1 1 0 RGS12 6002 broad.mit.edu 37 4 3419262 3419262 + Missense_Mutation SNP G G A rs138449809 TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr4:3419262G>A ENST00000336727.3 + 9 3659 c.2755G>A c.(2755-2757)Gca>Aca p.A919T RGS12_ENST00000382788.3_Missense_Mutation_p.A919T|RGS12_ENST00000344733.5_Missense_Mutation_p.A919T|RGS12_ENST00000508158.1_3'UTR|RGS12_ENST00000338806.4_Missense_Mutation_p.A271T|RGS12_ENST00000538395.1_Missense_Mutation_p.A261T|RGS12_ENST00000306648.7_Missense_Mutation_p.A317T NM_002926.3 NP_002917.1 O14924 RGS12_HUMAN regulator of G-protein signaling 12 919 condensed nuclear chromosome|cytoplasm|plasma membrane GTPase activator activity|receptor signaling protein activity autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) CGGGGACCACGCAGACGGTTT 0.662000 10 66 0 0 1 0 0 C1GALT1 56913 broad.mit.edu 37 7 7278082 7278082 + Silent SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr7:7278082C>T ENST00000436587.2 + 3 640 c.417C>T c.(415-417)ggC>ggT p.G139G C1GALT1_ENST00000223122.2_Silent_p.G139G|C1GALT1_ENST00000402468.3_Silent_p.G139G NM_020156.3 NP_064541.1 Q9NS00 C1GLT_HUMAN core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase, 1 139 angiogenesis|cell differentiation|kidney development integral to membrane glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity|metal ion binding breast(1)|kidney(1)|lung(3)|prostate(1)|urinary_tract(1) 7 UCEC - Uterine corpus endometrioid carcinoma (126;0.177) CCAAAGAAGGCAGAGATCAAC 0.378000 12 79 0 0 1 0 0 UBQLNL 143630 broad.mit.edu 37 11 5537024 5537024 + Silent SNP A A T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:5537024A>T ENST00000380184.1 - 1 911 c.648T>A c.(646-648)ctT>ctA p.L216L HBG2_ENST00000380259.2_Intron NM_145053.4 NP_659490.4 Q8IYU4 UBQLN_HUMAN ubiquilin-like 216 endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 33 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136) CAGAATTATCAAGAAGAAGGC 0.453000 40 111 0 0 1 0 0 TRPM5 29850 broad.mit.edu 37 11 2435334 2435334 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:2435334G>A ENST00000452833.1 - 12 1861 c.1853C>T c.(1852-1854)aCc>aTc p.T618I TRPM5_ENST00000528453.1_Missense_Mutation_p.T616I|TRPM5_ENST00000155858.6_Missense_Mutation_p.T616I|TRPM5_ENST00000533060.1_Missense_Mutation_p.T616I Q9NZQ8 TRPM5_HUMAN transient receptor potential cation channel, subfamily M, member 5 616 integral to membrane|plasma membrane receptor activity|voltage-gated ion channel activity breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2) 23 Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311) BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191) GTCAGCCTCGGTGGCCAGGTG 0.682000 4 13 0 0 1 0 0 SUMO3 6612 broad.mit.edu 37 21 46226842 46226842 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr21:46226842C>T ENST00000397898.3 - 4 468 c.386G>A c.(385-387)cGt>cAt p.R129H SUMO3_ENST00000332859.6_3'UTR|SUMO3_ENST00000411651.2_3'UTR|SUMO3_ENST00000479153.1_5'UTR P55854 SUMO3_HUMAN small ubiquitin-like modifier 3 0 protein sumoylation cytoplasm|kinetochore protein binding prostate(1) 1 Colorectal(79;0.058) CGAGGATGGACGGCCCGGGCT 0.602000 14 24 0 0 1 0 0 TRIP13 9319 broad.mit.edu 37 5 908488 908488 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr5:908488G>T ENST00000166345.3 + 9 1134 c.778G>T c.(778-780)Gcc>Tcc p.A260S NM_004237.3 NP_004228.1 Q15645 PCH2_HUMAN thyroid hormone receptor interactor 13 260 double-strand break repair|reciprocal meiotic recombination|synaptonemal complex assembly|transcription from RNA polymerase II promoter ATP binding|identical protein binding|nucleoside-triphosphatase activity|transcription cofactor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1) 18 Epithelial(17;0.00147)|OV - Ovarian serous cystadenocarcinoma(19;0.00271)|all cancers(22;0.00622)|Lung(60;0.165) TCTCACAGCCGCCCGAAATGC 0.577000 89 45 6.07207e-39 9.7562e-39 1 1 0 GPR64 10149 broad.mit.edu 37 X 19018034 19018034 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chrX:19018034C>A ENST00000379878.3 - 24 2468 c.2227G>T c.(2227-2229)Gat>Tat p.D743Y GPR64_ENST00000340581.3_Missense_Mutation_p.D640Y|GPR64_ENST00000360279.4_Missense_Mutation_p.D737Y|GPR64_ENST00000357544.3_Missense_Mutation_p.D729Y|GPR64_ENST00000379876.1_Missense_Mutation_p.D735Y|GPR64_ENST00000354791.3_Missense_Mutation_p.D743Y|GPR64_ENST00000357991.3_Missense_Mutation_p.D756Y|GPR64_ENST00000356606.4_Missense_Mutation_p.D745Y|GPR64_ENST00000379869.3_Missense_Mutation_p.D759Y|GPR64_ENST00000379873.2_Missense_Mutation_p.D759Y NM_001184833.1 NP_001171762.1 Q8IZP9 GPR64_HUMAN G protein-coupled receptor 64 759 neuropeptide signaling pathway|spermatogenesis cytoplasm|integral to plasma membrane G-protein coupled receptor activity breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1) 42 Hepatocellular(33;0.183) CCATAGTTATCTGGGGATATA 0.433000 34 124 4.4194e-11 5.6839e-11 1 1 0 ODF3L2 284451 broad.mit.edu 37 19 463927 463927 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:463927G>T ENST00000315489.4 - 4 1022 c.787C>A c.(787-789)Cgc>Agc p.R263S ODF3L2_ENST00000382696.3_Missense_Mutation_p.R227S NM_182577.2 NP_872383.1 Q3SX64 OD3L2_HUMAN outer dense fiber of sperm tails 3-like 2 263 large_intestine(1)|lung(2) 3 TTCGAGTGGCGGATGCCCATA 0.721000 9 23 0.000673444 0.000712181 1 1 0 CEP170B 283638 broad.mit.edu 37 14 105353664 105353664 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr14:105353664G>A ENST00000453495.1 + 12 3319 c.3091G>A c.(3091-3093)Gcc>Acc p.A1031T CEP170B_ENST00000414716.3_Missense_Mutation_p.A1030T|CEP170B_ENST00000418279.1_Missense_Mutation_p.A960T|CEP170B_ENST00000556508.1_Missense_Mutation_p.A960T centrosomal protein 170B ACGGCGCTCAGCCATAAGGCG 0.677000 6 24 0 0 1 0 0 GAPVD1 26130 broad.mit.edu 37 9 128092475 128092475 + Silent SNP A A T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr9:128092475A>T ENST00000470056.1 + 11 2311 c.2151A>T c.(2149-2151)gtA>gtT p.V717V GAPVD1_ENST00000312123.9_Silent_p.V696V|GAPVD1_ENST00000265956.4_Silent_p.V717V|GAPVD1_ENST00000394083.2_Silent_p.V696V|GAPVD1_ENST00000394104.2_Silent_p.V717V|GAPVD1_ENST00000394105.2_Silent_p.V717V|GAPVD1_ENST00000297933.6_Silent_p.V717V|GAPVD1_ENST00000495955.1_Silent_p.V717V Q14C86 GAPD1_HUMAN GTPase activating protein and VPS9 domains 1 717 endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction cytosol|endosome|membrane GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 CTTGGAGTGTAGAGGTATTGC 0.423000 39 70 0 0 1 0 0 TNFRSF12A 51330 broad.mit.edu 37 16 3071845 3071845 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr16:3071845G>A ENST00000575124.1 + 3 594 c.571G>A c.(571-573)Gcc>Acc p.A191T TNFRSF12A_ENST00000341627.5_3'UTR|TNFRSF12A_ENST00000326577.4_3'UTR|TNFRSF12A_ENST00000573001.1_3'UTR Q9NP84 TNR12_HUMAN tumor necrosis factor receptor superfamily, member 12A 0 angiogenesis|apoptosis integral to membrane receptor activity lung(1)|skin(1) 2 CCCCCTGCCAGCCGGGGCTCG 0.637000 5 58 0 0 1 0 0 NEUROD1 4760 broad.mit.edu 37 2 182543230 182543230 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr2:182543230C>A ENST00000295108.3 - 2 815 c.358G>T c.(358-360)Gcg>Tcg p.A120S NEUROD1_ENST00000496876.1_Intron|CERKL_ENST00000479558.1_Intron NM_002500.4 NP_002491.2 Q13562 NDF1_HUMAN neuronal differentiation 1 120 Helix-loop-helix motif. amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus cytoplasm|nucleus chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 OV - Ovarian serous cystadenocarcinoma(117;0.088) TTGTCTAGCGCCGCGTTCAGT 0.537000 11 45 2.80697e-09 3.43296e-09 1 1 0 SLC27A1 376497 broad.mit.edu 37 19 17598328 17598328 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:17598328G>A ENST00000252595.7 + 4 881 c.784G>A c.(784-786)Gtg>Atg p.V262M SLC27A1_ENST00000598424.1_Missense_Mutation_p.V83M|SLC27A1_ENST00000442725.1_Missense_Mutation_p.V262M NM_198580.1 NP_940982.1 Q6PCB7 S27A1_HUMAN solute carrier family 27 (fatty acid transporter), member 1 262 Sufficient for oligomerization (By similarity). cardiolipin biosynthetic process|fatty acid metabolic process|long-chain fatty acid transport|negative regulation of phospholipid biosynthetic process|phosphatidic acid biosynthetic process|phosphatidylcholine biosynthetic process|phosphatidylethanolamine biosynthetic process|phosphatidylinositol biosynthetic process|phosphatidylserine biosynthetic process|transmembrane transport endomembrane system|integral to membrane fatty acid transporter activity|nucleotide binding breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 23 TGCCATTGTCGTGCACAGCAG 0.612000 10 16 0 0 1 0 0 CACNG1 786 broad.mit.edu 37 17 65052193 65052193 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr17:65052193C>T ENST00000226021.3 + 4 546 c.475C>T c.(475-477)Cgg>Tgg p.R159W NM_000727.3 NP_000718.1 Q06432 CCG1_HUMAN calcium channel, voltage-dependent, gamma subunit 1 159 muscle contraction voltage-gated calcium channel complex voltage-gated calcium channel activity breast(1)|large_intestine(2)|lung(2)|prostate(1)|skin(2) 8 all_cancers(12;1.04e-10)|Breast(2;1.45e-16)|all_epithelial(3;4.81e-12) Amlodipine(DB00381)|Diltiazem(DB00343)|Ibutilide(DB00308)|Lercanidipine(DB00528)|Magnesium Sulfate(DB00653)|Nimodipine(DB00393)|Nitrendipine(DB01054)|Verapamil(DB00661) GGAGGTCATGCGGCAGTCGGT 0.627000 8 74 0 0 1 0 0 KDM4A 9682 broad.mit.edu 37 1 44137428 44137428 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:44137428C>T ENST00000372396.3 + 11 1750 c.1616C>T c.(1615-1617)aCg>aTg p.T539M NM_014663.2 NP_055478.2 O75164 KDM4A_HUMAN lysine (K)-specific demethylase 4A 539 interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|nucleolus histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1) 37 CAAGGGCAAACGGGAGTTCTC 0.527000 49 95 0 0 1 0 0 B4GALT2 8704 broad.mit.edu 37 1 44450677 44450677 + Silent SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:44450677C>T ENST00000356836.6 + 4 1480 c.690C>T c.(688-690)tgC>tgT p.C230C B4GALT2_ENST00000372324.1_Silent_p.C230C|B4GALT2_ENST00000481924.1_3'UTR|B4GALT2_ENST00000309519.7_Silent_p.C259C|B4GALT2_ENST00000434555.2_Silent_p.C164C NM_001005417.2|NM_030587.2 NP_001005417.1|NP_085076.2 O60909 B4GT2_HUMAN UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2 230 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi cisterna membrane|integral to membrane beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|lactose synthase activity|metal ion binding|N-acetyllactosamine synthase activity endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 17 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0511) N-Acetyl-D-glucosamine(DB00141) TATACCGCTGCGGCGACCAAC 0.612000 3 30 0 0 1 0 0 COL17A1 1308 broad.mit.edu 37 10 105799217 105799217 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr10:105799217G>T ENST00000353479.5 - 43 3172 c.2882C>A c.(2881-2883)cCc>cAc p.P961H COL17A1_ENST00000369733.3_Intron NM_000494.3 NP_000485.3 Q9UMD9 COHA1_HUMAN collagen, type XVII, alpha 1 961 Triple-helical region. cell-matrix adhesion|epidermis development|hemidesmosome assembly basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane protein binding NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 62 Colorectal(252;0.103)|Breast(234;0.122) Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165) GTCACCTTTGGGTCCCTGGGG 0.597000 21 61 1.36565e-18 1.97622e-18 1 1 0 ACTN4 81 broad.mit.edu 37 19 39220016 39220016 + Missense_Mutation SNP G G A rs141002044 byFrequency TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:39220016G>A ENST00000252699.2 + 21 2756 c.2680G>A c.(2680-2682)Ggt>Agt p.G894S ACTN4_ENST00000390009.3_Missense_Mutation_p.G675S|ACTN4_ENST00000424234.2_Missense_Mutation_p.G504S|ACTN4_ENST00000497637.1_3'UTR NM_004924.4 NP_004915.2 O43707 ACTN4_HUMAN actinin, alpha 4 894 platelet activation|platelet degranulation|positive regulation of cellular component movement|positive regulation of sodium:hydrogen antiporter activity|protein transport|regulation of apoptosis extracellular region|nucleolus|perinuclear region of cytoplasm|platelet alpha granule lumen|protein complex|pseudopodium|ribonucleoprotein complex actin filament binding|calcium ion binding|integrin binding|nucleoside binding|protein homodimerization activity NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3) 30 all_cancers(60;1.57e-05)|Ovarian(47;0.103) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) CGCCGTGCCCGGTGCCCTCGA 0.672000 7 43 0 0 1 0 0 KCNQ4 9132 broad.mit.edu 37 1 41284300 41284300 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:41284300G>A ENST00000347132.5 + 4 738 c.656G>A c.(655-657)cGc>cAc p.R219H KCNQ4_ENST00000509682.2_Missense_Mutation_p.R219H NM_004700.3|NM_172163.2 NP_004691.2|NP_751895.1 P56696 KCNQ4_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 4 219 sensory perception of sound basal plasma membrane|voltage-gated potassium channel complex central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1) 26 Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;1.38e-17) CGCATGGACCGCCGCGGCGGC 0.697000 6 21 0 0 1 0 0 IGHV3-16 28447 broad.mit.edu 37 14 106621989 106621989 + RNA SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr14:106621989G>T ENST00000390604.2 - 0 329 ATGATGAATCGGCGCTTCACG 0.532000 140 169 4.60929e-88 7.52447e-88 1 1 0 KRBA1 84626 broad.mit.edu 37 7 149420020 149420020 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr7:149420020C>A ENST00000255992.10 + 7 1144 c.745C>A c.(745-747)Ctg>Atg p.L249M KRBA1_ENST00000479560.1_3'UTR|KRBA1_ENST00000485033.2_Missense_Mutation_p.L249M|KRBA1_ENST00000319551.8_Missense_Mutation_p.L249M NM_032534.2 NP_115923.2 A5PL33 KRBA1_HUMAN KRAB-A domain containing 1 249 breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1) 27 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) CAGAGCAGACCTGGGGCCTGG 0.622000 15 17 0.000219431 0.000236741 1 1 0 CCDC88B 283234 broad.mit.edu 37 11 64109510 64109510 + Silent SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:64109510G>A ENST00000356786.5 + 8 764 c.720G>A c.(718-720)agG>agA p.R240R CCDC88B_ENST00000463837.1_3'UTR NM_032251.5 NP_115627.6 A6NC98 CC88B_HUMAN coiled-coil domain containing 88B 240 microtubule cytoskeleton organization cytoplasm microtubule binding endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 TCTGCTTGAGGCCTGAGGCTC 0.652000 6 42 0 0 1 0 0 PDRG1 81572 broad.mit.edu 37 20 30538170 30538170 + Missense_Mutation SNP T T A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr20:30538170T>A ENST00000202017.4 - 2 238 c.108A>T c.(106-108)aaA>aaT p.K36N NM_030815.2 NP_110442.1 Q9NUG6 PDRG1_HUMAN p53 and DNA-damage regulated 1 36 protein folding prefoldin complex unfolded protein binding endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|stomach(1) 8 Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347) TCTGATTCCTTTTAGTGTCCA 0.527000 32 50 0 0 1 0 0 PLXNA1 5361 broad.mit.edu 37 3 126707962 126707962 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr3:126707962G>T ENST00000251772.4 + 1 526 c.457G>T c.(457-459)Ggg>Tgg p.G153W PLXNA1_ENST00000393409.2_Missense_Mutation_p.G176W Q9UIW2 PLXA1_HUMAN plexin A1 176 Sema. axon guidance integral to membrane|intracellular|plasma membrane semaphorin receptor activity breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 67 GBM - Glioblastoma multiforme(114;0.155) GCTCATTGCCGGGCCACCGGG 0.637000 9 20 9.70103e-10 1.20484e-09 1 1 0 GPR149 344758 broad.mit.edu 37 3 154147339 154147339 + Silent SNP A A T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr3:154147339A>T ENST00000389740.2 - 1 165 c.66T>A c.(64-66)tcT>tcA p.S22S NM_001038705.1 NP_001033794.1 Q86SP6 GP149_HUMAN G protein-coupled receptor 149 22 integral to membrane|plasma membrane G-protein coupled receptor activity autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2) 47 LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173) AAAGGTCCGTAGAATTATGAT 0.368000 21 41 0 0 1 0 0 OR52E6 390078 broad.mit.edu 37 11 5862765 5862765 + Silent SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:5862765G>T ENST00000329322.5 - 1 362 c.363C>A c.(361-363)gcC>gcA p.A121A TRIM5_ENST00000380027.1_Intron|OR52E6_ENST00000379946.2_Silent_p.A125A NM_001005167.1 NP_001005167.1 Q96RD3 O52E6_HUMAN olfactory receptor, family 52, subfamily E, member 6 121 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 27 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) AGCGGTCAAAGGCCATGGCCA 0.458000 38 177 2.05212e-20 3.04224e-20 1 1 0 PLEK2 26499 broad.mit.edu 37 14 67859554 67859554 + Missense_Mutation SNP A A G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr14:67859554A>G ENST00000216446.4 - 5 634 c.494T>C c.(493-495)gTg>gCg p.V165A NM_016445.1 NP_057529.1 Q9NYT0 PLEK2_HUMAN pleckstrin 2 165 DEP. actin cytoskeleton organization|intracellular signal transduction cytoplasm|cytoskeleton|lamellipodium membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|stomach(1) 15 all cancers(60;0.000728)|OV - Ovarian serous cystadenocarcinoma(108;0.00593)|BRCA - Breast invasive adenocarcinoma(234;0.00953) GAGCCAGTCCACCAGGGAGGA 0.637000 12 10 0 0 1 0 0 PCSK5 5125 broad.mit.edu 37 9 78936449 78936449 + Silent SNP C C T rs34898066 TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr9:78936449C>T ENST00000545128.1 + 30 4453 c.3915C>T c.(3913-3915)caC>caT p.H1305H NM_001190482.1 NP_001177411.1 Q92824 PCSK5_HUMAN proprotein convertase subtilisin/kexin type 5 715 anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release extracellular space|Golgi lumen|stored secretory granule peptide binding|serine-type endopeptidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 TCCTGCACCACGGAGTGTGCC 0.542000 25 74 0 0 1 0 0 ASXL3 80816 broad.mit.edu 37 18 31323498 31323498 + Missense_Mutation SNP T T A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr18:31323498T>A ENST00000269197.5 + 12 3686 c.3686T>A c.(3685-3687)aTg>aAg p.M1229K NM_030632.1 NP_085135.1 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 (Drosophila) 1229 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 43 AGTGTGCCCATGCTTTTTAAT 0.368000 20 29 0 0 1 0 0 DNAH6 1768 broad.mit.edu 37 2 84811317 84811317 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr2:84811317G>T ENST00000389394.3 + 15 2561 c.2424G>T c.(2422-2424)ttG>ttT p.L808F DNAH6_ENST00000398278.2_Missense_Mutation_p.L808F|DNAH6_ENST00000237449.6_Missense_Mutation_p.L808F NM_001370.1 NP_001361.1 Q9C0G6 DYH6_HUMAN dynein, axonemal, heavy chain 6 808 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 57 GTGTGCATTTGGGTAGTGATC 0.338000 5 75 0.014758 0.0151151 1 1 0 NLRP12 91662 broad.mit.edu 37 19 54304549 54304549 + Silent SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:54304549C>A ENST00000324134.6 - 7 2856 c.2688G>T c.(2686-2688)ctG>ctT p.L896L NLRP12_ENST00000391773.1_Silent_p.L897L|NLRP12_ENST00000391772.1_Intron|NLRP12_ENST00000535162.1_Silent_p.L896L|NLRP12_ENST00000354278.3_Intron|NLRP12_ENST00000351894.4_Intron|NLRP12_ENST00000391775.3_Silent_p.L896L|NLRP12_ENST00000345770.5_Silent_p.L897L NM_001277126.1|NM_144687.2 NP_001264055.1|NP_653288.1 P59046 NAL12_HUMAN NLR family, pyrin domain containing 12 896 negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB cytoplasm ATP binding|caspase activator activity|protein binding NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 80 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.026) CGAGGTCCCCCAGCTCATTCA 0.617000 17 40 5.01169e-05 5.49156e-05 1 1 0 ENOX1 55068 broad.mit.edu 37 13 43872484 43872484 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr13:43872484G>T ENST00000261488.6 - 12 2021 c.1444C>A c.(1444-1446)Cag>Aag p.Q482K ENOX1_ENST00000412891.1_Missense_Mutation_p.Q482K NM_001242863.1|NM_017993.3 NP_001229792.1|NP_060463.2 Q8TC92 ENOX1_HUMAN ecto-NOX disulfide-thiol exchanger 1 482 electron transport chain|rhythmic process|transport extracellular space|plasma membrane nucleic acid binding|nucleotide binding|oxidoreductase activity breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1) 34 Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406) GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172) CCAGGTACCTGCTGCATGCCT 0.433000 25 26 5.45024e-15 7.53228e-15 1 1 0 WDR52 55779 broad.mit.edu 37 3 113115476 113115476 + Silent SNP T T C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr3:113115476T>C ENST00000393845.2 - 14 1734 c.1668A>G c.(1666-1668)ggA>ggG p.G556G WDR52_ENST00000295868.2_Silent_p.G556G|WDR52_ENST00000475568.1_5'UTR NM_001164496.1 NP_001157968.1 Q96MT7 WDR52_HUMAN WD repeat domain 52 556 breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2) 49 TTTTCTTCCGTCCCGCAAAAA 0.393000 45 33 0 0 1 0 0 FAM129C 199786 broad.mit.edu 37 19 17660464 17660464 + Silent SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:17660464C>A ENST00000595684.1 + 15 2109 c.1971C>A c.(1969-1971)ctC>ctA p.L657L FAM129C_ENST00000599124.1_Intron|FAM129C_ENST00000599164.1_Intron|FAM129C_ENST00000601861.1_Intron|FAM129C_ENST00000600871.1_Intron|FAM129C_ENST00000449408.2_Intron|FAM129C_ENST00000332386.5_Intron|FAM129C_ENST00000352727.3_Intron|FAM129C_ENST00000335393.4_Intron Q86XR2 NIBL2_HUMAN family with sequence similarity 129, member C 0 autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1) 33 CACTTTGTCTCCTTACCCAGC 0.562000 3 9 0.115264 0.116511 1 1 0 FGD3 89846 broad.mit.edu 37 9 95738724 95738724 + Silent SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr9:95738724G>T ENST00000375482.3 + 3 682 c.186G>T c.(184-186)acG>acT p.T62T FGD3_ENST00000468206.1_3'UTR|FGD3_ENST00000337352.6_Silent_p.T62T|FGD3_ENST00000416701.2_Silent_p.T62T NM_001083536.1 NP_001077005.1 Q5JSP0 FGD3_HUMAN FYVE, RhoGEF and PH domain containing 3 62 actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1) 17 TAGGCCCCACGGGAGAGCTGA 0.637000 9 22 3.86212e-05 4.23813e-05 1 1 0 SHB 6461 broad.mit.edu 37 9 38016080 38016080 + Missense_Mutation SNP G G C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr9:38016080G>C ENST00000377707.3 - 2 1331 c.766C>G c.(766-768)Ctc>Gtc p.L256V RP11-613M10.9_ENST00000540557.1_Missense_Mutation_p.L256V|SHB_ENST00000377700.4_Missense_Mutation_p.L256V NM_003028.2 NP_003019.2 Q15464 SHB_HUMAN Src homology 2 domain containing adaptor protein B 256 Mediates interaction with LAT, FAK1, JAK1 and JAK3. angiogenesis|apoptosis|cell differentiation|signal transduction cytoplasm|plasma membrane SH3/SH2 adaptor activity central_nervous_system(2)|endometrium(4)|lung(1)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1) 11 all_epithelial(88;0.122) GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658) TTGCTCTTGAGATCATTCTTG 0.522000 13 108 0 0 1 0 0 SERPINA12 145264 broad.mit.edu 37 14 94964722 94964722 + Missense_Mutation SNP G G C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr14:94964722G>C ENST00000341228.2 - 3 808 c.13C>G c.(13-15)Cta>Gta p.L5V SERPINA12_ENST00000556881.1_Missense_Mutation_p.L5V NM_173850.2 NP_776249.1 Q8IW75 SPA12_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12 5 regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 COAD - Colon adenocarcinoma(157;0.235) GCCAGGCCTAGTGTGGGGTTC 0.458000 58 68 0 0 1 0 0 KCNH7 90134 broad.mit.edu 37 2 163693073 163693073 + Missense_Mutation SNP A A G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr2:163693073A>G ENST00000332142.5 - 2 380 c.281T>C c.(280-282)gTg>gCg p.V94A KCNH7_ENST00000328032.4_Missense_Mutation_p.V94A NM_033272.3 NP_150375.2 Q9NS40 KCNH7_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 7 94 PAC. regulation of transcription, DNA-dependent integral to membrane protein binding|signal transducer activity NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 108 Ibutilide(DB00308) GGTGACCTCCACTTTCCTCTC 0.413000 10 22 0 0 1 0 0 HBG2 3048 broad.mit.edu 37 11 5275536 5275536 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:5275536G>A ENST00000380259.2 - 7 1541 c.301C>T c.(301-303)Cct>Tct p.P101S HBG2_ENST00000336906.4_Missense_Mutation_p.P101S|HBG2_ENST00000380252.1_Missense_Mutation_p.P91S hemoglobin, gamma G endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2) 13 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) AAGTTCTCAGGATCCACATGC 0.507000 13 86 0 0 1 0 0 DCAF4L2 138009 broad.mit.edu 37 8 88885963 88885963 + Silent SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr8:88885963C>A ENST00000319675.3 - 1 333 c.237G>T c.(235-237)gcG>gcT p.A79A NM_152418.3 NP_689631.1 Q8NA75 DC4L2_HUMAN DDB1 and CUL4 associated factor 4-like 2 79 p.A79A(1) breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 83 TGTTGGTATTCGCCAGTATGC 0.552000 37 77 1.42033e-22 2.13956e-22 1 1 0 CLEC5A 23601 broad.mit.edu 37 7 141645175 141645175 + Missense_Mutation SNP G G C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr7:141645175G>C ENST00000546910.1 - 3 301 c.105C>G c.(103-105)aaC>aaG p.N35K CLEC5A_ENST00000439991.1_5'UTR|CLEC5A_ENST00000438351.1_Missense_Mutation_p.N35K|CLEC5A_ENST00000551012.2_Missense_Mutation_p.N35K|CLEC5A_ENST00000470595.1_Intron NM_013252.2 NP_037384.1 Q9NY25 CLC5A_HUMAN C-type lectin domain family 5, member A 35 anti-apoptosis|cellular defense response|innate immune response|interspecies interaction between organisms|osteoblast development cell surface|integral to plasma membrane sugar binding|viral receptor activity endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1) 10 Melanoma(164;0.0171) TGAAACCATCGTTACTTTTGT 0.433000 13 56 0 0 1 0 0 EEF1G 1937 broad.mit.edu 37 11 62339102 62339102 + Silent SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:62339102C>T ENST00000378019.3 - 4 528 c.438G>A c.(436-438)gtG>gtA p.V146V MIR3654_ENST00000496634.2_3'UTR|EEF1G_ENST00000329251.4_Silent_p.V96V|EEF1G_ENST00000532986.1_5'UTR P26641 EF1G_HUMAN eukaryotic translation elongation factor 1 gamma 96 GST C-terminal. response to virus cytosol|eukaryotic translation elongation factor 1 complex protein binding|translation elongation factor activity breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 TCACCCACTGCACCACCTGGG 0.577000 5 16 0 0 1 0 0 BCORL1 63035 broad.mit.edu 37 X 129189899 129189899 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chrX:129189899C>T ENST00000540052.1 + 12 4968 c.4924C>T c.(4924-4926)Cgg>Tgg p.R1642W BCORL1_ENST00000303743.5_Missense_Mutation_p.R1716W|BCORL1_ENST00000359304.2_Missense_Mutation_p.R1512W|BCORL1_ENST00000218147.7_Missense_Mutation_p.R1642W NM_021946.4 NP_068765.3 Q5H9F3 BCORL_HUMAN BCL6 corepressor-like 1 1642 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus p.R1642R(1) breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 75 CTTTCAGGCCCGGTTCCCGCA 0.567000 24 182 0 0 1 0 0 MIR519A1 574496 broad.mit.edu 37 19 54255668 54255668 + RNA SNP T T C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:54255668T>C ENST00000385257.1 + 0 18 NR_030218.1 TGTGACACTCTAGAGGGAAGC 0.408000 55 96 0 0 1 0 0 WIPF2 147179 broad.mit.edu 37 17 38420958 38420958 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr17:38420958C>A ENST00000323571.4 + 5 770 c.530C>A c.(529-531)cCt>cAt p.P177H WIPF2_ENST00000394103.3_Intron|WIPF2_ENST00000536600.1_Intron|WIPF2_ENST00000583130.1_Missense_Mutation_p.P177H|WIPF2_ENST00000585043.1_Missense_Mutation_p.P177H|WIPF2_ENST00000494757.1_3'UTR NM_133264.4 NP_573571.1 Q8TF74 WIPF2_HUMAN WAS/WASL interacting protein family, member 2 177 Poly-Pro. cytoplasm|cytoskeleton actin binding NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 30 TCCTCTGCCCCTCCCCCACCA 0.632000 HNSCC(43;0.11) 15 84 0.000219431 0.000236741 1 1 0 FAM83E 54854 broad.mit.edu 37 19 49106851 49106851 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:49106851C>T ENST00000263266.3 - 4 1265 c.1076G>A c.(1075-1077)cGc>cAc p.R359H NM_017708.3 NP_060178.2 Q2M2I3 FA83E_HUMAN family with sequence similarity 83, member E 359 NS(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(2) 10 all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158) ggtccgggcgcgcTGCACACT 0.741000 7 7 0 0 1 0 0 DCHS1 8642 broad.mit.edu 37 11 6651268 6651268 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:6651268G>T ENST00000299441.3 - 10 5168 c.4757C>A c.(4756-4758)tCt>tAt p.S1586Y NM_003737.2 NP_003728.1 Q96JQ0 PCD16_HUMAN dachsous cadherin-related 1 1586 Cadherin 15. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.S1586F(1) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 103 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GTCCCCGCCAGATGCCAGCCG 0.687000 9 21 9.31168e-06 1.04378e-05 1 1 0 TSHZ3 57616 broad.mit.edu 37 19 31767987 31767987 + Silent SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:31767987C>A ENST00000240587.4 - 2 3039 c.2712G>T c.(2710-2712)ctG>ctT p.L904L NM_020856.2 NP_065907.2 Q63HK5 TSH3_HUMAN teashirt zinc finger homeobox 3 904 negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5) 123 Esophageal squamous(110;0.226) CCTGGAGGATCAGGAGGTGCT 0.622000 14 29 3.27435e-08 3.917e-08 1 1 0 CHRDL1 91851 broad.mit.edu 37 X 109963062 109963062 + Splice_Site SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chrX:109963062C>A ENST00000218054.4 - 6 735 c.e6+1 CHRDL1_ENST00000372045.1_Splice_Site|CHRDL1_ENST00000394797.4_Splice_Site|CHRDL1_ENST00000372042.1_Splice_Site|CHRDL1_ENST00000444321.2_Splice_Site|CHRDL1_ENST00000482160.1_Intron|CHRDL1_ENST00000434224.1_Intron NM_001143981.1|NM_001143982.1|NM_145234.3 NP_001137453.1|NP_001137454.1|NP_660277.2 Q9BU40 CRDL1_HUMAN chordin-like 1 BMP signaling pathway|cell differentiation|nervous system development|ossification extracellular region endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1) 31 AACACACCTACCTCTGCATAC 0.478000 19 99 3.73194e-20 5.51795e-20 1 1 0 BAZ1B 9031 broad.mit.edu 37 7 72892218 72892218 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr7:72892218G>A ENST00000339594.4 - 7 1911 c.1573C>T c.(1573-1575)Cgc>Tgc p.R525C BAZ1B_ENST00000404251.1_Missense_Mutation_p.R525C NM_032408.3 NP_115784.1 Q9UIG0 BAZ1B_HUMAN bromodomain adjacent to zinc finger domain, 1B 525 Lys-rich. ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent WINAC complex ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 Lung NSC(55;0.0659)|all_lung(88;0.152) AGTTCATAGCGTTTTTGAACA 0.433000 17 111 0 0 1 0 0 RASL10B 91608 broad.mit.edu 37 17 34062246 34062246 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr17:34062246G>T ENST00000268864.3 + 2 420 c.43G>T c.(43-45)Gtg>Ttg p.V15L NM_033315.3 NP_201572.1 Q96S79 RSLAB_HUMAN RAS-like, family 10, member B 15 Small GTPase-like. small GTPase mediated signal transduction plasma membrane GTP binding|GTPase activity breast(2)|endometrium(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 10 UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) GGCGCGAGGTGTGGGCAAGAG 0.687000 23 46 7.87624e-14 1.06617e-13 1 1 0 SPATA31D1 389763 broad.mit.edu 37 9 84610009 84610009 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr9:84610009G>T ENST00000344803.2 + 4 4671 c.4624G>T c.(4624-4626)Gtc>Ttc p.V1542F NM_001001670.2 NP_001001670.1 SPATA31 subfamily D, member 1 GTGTCCAGCCGTCCCAACCAG 0.532000 5 11 1.23904e-05 1.37992e-05 1 1 0 VDAC1 7416 broad.mit.edu 37 5 133308482 133308482 + Missense_Mutation SNP C C G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr5:133308482C>G ENST00000265333.3 - 9 1076 c.832G>C c.(832-834)Gga>Cga p.G278R VDAC1_ENST00000395044.3_Missense_Mutation_p.G278R|VDAC1_ENST00000395047.2_Missense_Mutation_p.G278R NM_003374.2 NP_003365.1 P21796 VDAC1_HUMAN voltage-dependent anion channel 1 278 apoptosis|interspecies interaction between organisms mitochondrial nucleoid|mitochondrial outer membrane|plasma membrane|pore complex porin activity|protein binding|voltage-gated anion channel activity endometrium(1)|large_intestine(1)|lung(1)|skin(1) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02) Dihydroxyaluminium(DB01375) AATTCCAGTCCTAGACCAAGC 0.383000 17 22 0 0 1 0 0 AQP9 366 broad.mit.edu 37 15 58458998 58458998 + Splice_Site SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr15:58458998G>T ENST00000219919.4 + 2 608 c.238_splice c.e2+1 p.G80_splice AQP9_ENST00000558772.1_Splice_Site_p.G15_splice|AQP9_ENST00000536493.1_Splice_Site_p.G80_splice|ALDH1A2_ENST00000558231.1_Intron NM_020980.3 NP_066190.2 O43315 AQP9_HUMAN aquaporin 9 80 cellular response to cAMP|excretion|immune response|metabolic process|response to mercury ion|response to osmotic stress|water homeostasis integral to plasma membrane|intracellular membrane-bounded organelle amine transmembrane transporter activity|carboxylic acid transmembrane transporter activity|glycerol channel activity|porin activity|purine base transmembrane transporter activity|pyrimidine base transmembrane transporter activity|water channel activity endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1) 21 GBM - Glioblastoma multiforme(80;0.16) CGGTGTCTCTGGTAAGCAGTA 0.443000 21 89 1.00905e-13 1.3577e-13 1 1 0 IGHM 3507 broad.mit.edu 37 14 106321707 106321707 + RNA SNP T T C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr14:106321707T>C ENST00000390559.2 - 0 526 GGTCACCTTGTAGGTCGTGGG 0.617000 15 28 0 0 1 0 0 TENM1 10178 broad.mit.edu 37 X 123654554 123654554 + Silent SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chrX:123654554G>T ENST00000422452.2 - 18 3177 c.3114C>A c.(3112-3114)acC>acA p.T1038T TENM1_ENST00000371130.3_Silent_p.T1038T NM_001163278.1|NM_001163279.1 NP_001156750.1|NP_001156751.1 teneurin transmembrane protein 1 TCCGTAGCAGGGTTTTATACC 0.463000 16 45 0.000308642 0.000330131 1 1 0 NXPH1 30010 broad.mit.edu 37 7 8475356 8475356 + Missense_Mutation SNP T T C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr7:8475356T>C ENST00000405863.1 + 2 924 c.13T>C c.(13-15)Tgc>Cgc p.C5R NXPH1_ENST00000602349.1_5'UTR NM_152745.2 NP_689958.1 P58417 NXPH1_HUMAN neurexophilin 1 5 extracellular region breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|ovary(1) 17 Ovarian(82;0.0628) UCEC - Uterine corpus endometrioid carcinoma (126;0.101) GCAGGCTGCGTGCTGGTACGT 0.532000 56 62 0 0 1 0 0 LAX1 54900 broad.mit.edu 37 1 203743277 203743277 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:203743277C>A ENST00000442561.2 + 5 1055 c.665C>A c.(664-666)aCc>aAc p.T222N LAX1_ENST00000367217.5_Missense_Mutation_p.T206N|LAX1_ENST00000367215.1_3'UTR NM_017773.3 NP_060243.2 Q8IWV1 LAX1_HUMAN lymphocyte transmembrane adaptor 1 222 B cell activation|immune response|inactivation of MAPK activity|intracellular signal transduction|negative regulation of T cell activation Golgi apparatus|integral to membrane|plasma membrane protein kinase binding|SH2 domain binding central_nervous_system(2)|endometrium(3)|large_intestine(2)|lung(13)|prostate(1)|stomach(1)|urinary_tract(2) 24 all_cancers(21;0.0915) BRCA - Breast invasive adenocarcinoma(75;0.109) CTTCCCAGTACCCAGAAGCTG 0.478000 17 33 9.16793e-09 1.10498e-08 1 1 0 UBASH3B 84959 broad.mit.edu 37 11 122650363 122650363 + Silent SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:122650363G>A ENST00000284273.5 + 4 936 c.561G>A c.(559-561)aaG>aaA p.K187K NM_032873.4 NP_116262.2 Q8TF42 UBS3B_HUMAN ubiquitin associated and SH3 domain containing B 187 cytoplasm|nucleus protein tyrosine phosphatase activity breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2) 26 Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104) BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463) TCCTCAAGAAGTTTGCTGCTG 0.542000 26 114 0 0 1 0 0 TGM1 7051 broad.mit.edu 37 14 24728975 24728975 + Silent SNP G G T rs121918731 TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr14:24728975G>T ENST00000206765.6 - 6 1042 c.919C>A c.(919-921)Cgg>Agg p.R307R TGM1_ENST00000544573.1_Intron NM_000359.2 NP_000350.1 P22735 TGM1_HUMAN transglutaminase 1 307 R -> G (in ARCI-TGM1).|R -> W (in LI1). cell envelope organization|keratinization|peptide cross-linking cornified envelope|intrinsic to membrane acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity p.R307W(1) breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2) 24 GBM - Glioblastoma multiforme(265;0.0186) L-Glutamine(DB00130) ATCCCCCGCCGGTCCAGGATG 0.602000 8 22 0.000274275 0.000293932 1 1 0 UQCC1 55245 broad.mit.edu 37 20 33934981 33934981 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr20:33934981C>T ENST00000397554.1 - 7 569 c.559G>A c.(559-561)Ggc>Agc p.G187S UQCC_ENST00000374384.2_Missense_Mutation_p.G187S|UQCC_ENST00000374377.5_Missense_Mutation_p.G75S|UQCC_ENST00000374380.2_Missense_Mutation_p.G119S|UQCC_ENST00000542501.1_Missense_Mutation_p.R143Q|UQCC_ENST00000349714.5_Missense_Mutation_p.G160S|UQCC_ENST00000407996.2_Intron|UQCC_ENST00000359226.2_Intron|UQCC_ENST00000491125.1_5'UTR|UQCC_ENST00000540457.1_Missense_Mutation_p.G32S|UQCC_ENST00000397556.3_Missense_Mutation_p.G88S|UQCC_ENST00000374385.5_Missense_Mutation_p.G187S Q9NVA1 UQCC_HUMAN 187 cytoplasmic membrane-bounded vesicle breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(1)|urinary_tract(1) 17 BRCA - Breast invasive adenocarcinoma(18;0.00252) ATGACTCTGCCGCGCTGCTGA 0.488000 19 121 0 0 1 0 0 GPR132 29933 broad.mit.edu 37 14 105518050 105518050 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr14:105518050C>T ENST00000329797.3 - 4 1335 c.424G>A c.(424-426)Gtg>Atg p.V142M GPR132_ENST00000392585.2_Missense_Mutation_p.V133M|GPR132_ENST00000539291.2_Missense_Mutation_p.V142M|GPR132_ENST00000546679.1_5'UTR NM_013345.2 NP_037477.1 Q9UNW8 GP132_HUMAN G protein-coupled receptor 132 142 response to stress integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1) 18 all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219) OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227) Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521) ACCACGGCCACGAAGCGGTCG 0.627000 28 148 0 0 1 0 0 PDZRN4 29951 broad.mit.edu 37 12 41967124 41967124 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr12:41967124G>T ENST00000298919.7 + 10 2151 c.1763G>T c.(1762-1764)cGg>cTg p.R588L PDZRN4_ENST00000402685.2_Missense_Mutation_p.R848L|PDZRN4_ENST00000539469.2_Missense_Mutation_p.R590L Q6ZMN7 PZRN4_HUMAN PDZ domain containing ring finger 4 848 ubiquitin-protein ligase activity|zinc ion binding breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 77 all_cancers(12;0.000673) Lung NSC(34;0.0205)|all_lung(34;0.0264) GCACACGCCCGGCATTATCAA 0.478000 58 146 4.54978e-40 7.31553e-40 1 1 0 ADAMTS17 170691 broad.mit.edu 37 15 100802629 100802629 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr15:100802629C>A ENST00000268070.4 - 5 906 c.801G>T c.(799-801)atG>atT p.M267I NM_139057.2 NP_620688.2 Q8TE56 ATS17_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 17 267 Peptidase M12B. proteolysis intracellular|proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2) 50 Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571) OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161) COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219) GGTGCTGAAACATATTGTATA 0.378000 31 92 2.49534e-26 3.83623e-26 1 1 0 JAKMIP3 282973 broad.mit.edu 37 10 133930815 133930815 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr10:133930815C>T ENST00000298622.4 + 2 508 c.370C>T c.(370-372)Cgt>Tgt p.R124C NM_001105521.2 NP_001098991.1 Janus kinase and microtubule interacting protein 3 breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 31 all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175) OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224) CAGTGCCCTGCGTGATGGCGG 0.617000 10 63 0 0 1 0 0 MED15 51586 broad.mit.edu 37 22 20939288 20939288 + Silent SNP C C T rs143509872 TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr22:20939288C>T ENST00000263205.7 + 15 2019 c.1950C>T c.(1948-1950)caC>caT p.H650H MED15_ENST00000382974.2_Silent_p.H539H|MED15_ENST00000542773.1_3'UTR|MED15_ENST00000406969.1_Silent_p.H584H|MED15_ENST00000425759.2_Silent_p.H499H|MED15_ENST00000541476.1_Silent_p.H584H|MED15_ENST00000292733.7_Silent_p.H610H NM_001003891.1 NP_001003891.1 Q96RN5 MED15_HUMAN mediator complex subunit 15 650 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|mediator complex protein binding central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 25 all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209) CCGCCATTCACGGCCCACCCA 0.652000 19 180 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11039058 11039058 + RNA SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr21:11039058C>T ENST00000470054.1 - 0 1145 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TCCATCAATCCAGTAGAAAGT 0.398000 17 273 0 0 1 0 0 ZNF135 7694 broad.mit.edu 37 19 58573027 58573027 + Missense_Mutation SNP T T C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:58573027T>C ENST00000401053.4 + 2 152 c.149T>C c.(148-150)cTg>cCg p.L50P ZNF135_ENST00000511556.1_Missense_Mutation_p.L38P|ZNF135_ENST00000506786.1_5'UTR|ZNF135_ENST00000359978.6_Missense_Mutation_p.L50P|ZNF135_ENST00000313434.5_Missense_Mutation_p.L38P|ZNF135_ENST00000439855.2_Missense_Mutation_p.L38P NM_001164529.1|NM_007134.1 NP_001158001.1|NP_009065.1 B4DHH9 B4DHH9_HUMAN zinc finger protein 135 38 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1) 41 Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161) CAGAGGACCCTGTACCGTGAT 0.557000 47 91 0 0 1 0 0 MAP4K2 5871 broad.mit.edu 37 11 64564481 64564481 + Silent SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:64564481G>A ENST00000294066.2 - 20 1471 c.1380C>T c.(1378-1380)caC>caT p.H460H MAP4K2_ENST00000377350.3_Silent_p.H452H NM_004579.3 NP_004570.2 Q12851 M4K2_HUMAN mitogen-activated protein kinase kinase kinase kinase 2 460 activation of JUN kinase activity|immune response|positive regulation of JNK cascade|vesicle targeting basolateral plasma membrane|Golgi membrane|soluble fraction ATP binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity|small GTPase regulator activity cervix(1)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(2) 8 GGGGGAGCCCGTGGCAGGATG 0.642000 18 96 0 0 1 0 0 ATP4A 495 broad.mit.edu 37 19 36045906 36045906 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:36045906G>A ENST00000262623.3 - 16 2427 c.2399C>T c.(2398-2400)cCc>cTc p.P800L NM_000704.2 NP_000695.2 P20648 ATP4A_HUMAN ATPase, H+/K+ exchanging, alpha polypeptide 800 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) GATGAGGTAGGGTGTCAGCTC 0.552000 22 43 0 0 1 0 0 POLR1A 25885 broad.mit.edu 37 2 86255821 86255821 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr2:86255821C>A ENST00000263857.6 - 32 5171 c.4793G>T c.(4792-4794)cGc>cTc p.R1598L POLR1A_ENST00000409681.1_Missense_Mutation_p.R1537L O95602 RPA1_HUMAN polymerase (RNA) I polypeptide A, 194kDa 1598 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter DNA-directed RNA polymerase I complex|nucleoplasm DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 63 GTAGAGGCGGCGCAGATCCAG 0.587000 11 28 0.000673444 0.000712181 1 1 0 CROCC 9696 broad.mit.edu 37 1 17256926 17256926 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:17256926G>T ENST00000375541.5 + 7 755 c.686G>T c.(685-687)aGt>aTt p.S229I CROCC_ENST00000467938.1_3'UTR NM_014675.3 NP_055490.3 Q5TZA2 CROCC_HUMAN ciliary rootlet coiled-coil, rootletin 229 cell cycle|cell projection organization|centrosome organization|protein localization actin cytoskeleton|centriole|ciliary rootlet|plasma membrane kinesin binding|structural molecule activity breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1) 62 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181) CCATTCAGGAGTGCCAGCCTG 0.652000 19 90 1.00905e-13 1.3577e-13 1 1 0 DCAF12L2 340578 broad.mit.edu 37 X 125299815 125299815 + Silent SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chrX:125299815C>T ENST00000538699.1 - 2 173 c.93G>A c.(91-93)gcG>gcA p.A31A DCAF12L2_ENST00000360028.2_Silent_p.A31A NM_001013628.2 NP_001013650.1 Q5VW00 DC122_HUMAN DDB1 and CUL4 associated factor 12-like 2 31 NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3) 64 CCTCTCCGTCCGCCGCCGCTA 0.701000 17 21 0 0 1 0 0 AHNAK2 113146 broad.mit.edu 37 14 105411420 105411420 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr14:105411420C>A ENST00000333244.5 - 7 10487 c.10368G>T c.(10366-10368)gaG>gaT p.E3456D AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 3456 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) ACAGGTCCCCCTCCAGCCGCG 0.617000 162 254 1.0911e-51 1.77472e-51 1 1 0 PKLR 5313 broad.mit.edu 37 1 155265004 155265004 + Silent SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:155265004G>A ENST00000392414.3 - 5 617 c.504C>T c.(502-504)acC>acT p.T168T PKLR_ENST00000342741.4_Silent_p.T199T NM_181871.3 NP_870986.1 P30613 KPYR_HUMAN pyruvate kinase, liver and RBC 199 endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process cytosol ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145) Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127) Pyruvic acid(DB00119) CCACCCACACGGTGTTCGCGT 0.632000 31 322 0 0 1 0 0 MAGI2 9863 broad.mit.edu 37 7 79082336 79082336 + Splice_Site SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr7:79082336C>T ENST00000354212.4 - 1 554 c.301_splice c.e1+1 p.G101_splice MAGI2_ENST00000419488.1_Splice_Site_p.G101_splice|MAGI2-AS3_ENST00000429408.1_RNA|MAGI2_ENST00000522391.1_Splice_Site_p.G101_splice NM_012301.3 NP_036433.2 Q86UL8 MAGI2_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 2 101 PDZ 1. 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) CTGCTCTCACCTTGCTTGACA 0.647000 37 61 0 0 1 0 0 SLC26A3 1811 broad.mit.edu 37 7 107431609 107431609 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr7:107431609G>T ENST00000340010.5 - 5 638 c.454C>A c.(454-456)Cgc>Agc p.R152S SLC26A3_ENST00000422236.2_Missense_Mutation_p.R117S NM_000111.2 NP_000102.1 P40879 S26A3_HUMAN solute carrier family 26 (anion exchanger), member 3 152 excretion integral to membrane|membrane fraction inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 46 GTTGCATTGCGATCTGGGACT 0.498000 44 49 4.07013e-28 6.31786e-28 1 1 0 ZBTB40 9923 broad.mit.edu 37 1 22848956 22848956 + Splice_Site SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:22848956G>T ENST00000404138.1 + 17 3809 c.3298_splice c.e17+1 p.G1100_splice ZBTB40_ENST00000375647.4_Splice_Site_p.G1100_splice|ZBTB40_ENST00000374651.4_Splice_Site_p.G988_splice NM_001083621.1 NP_001077090.1 Q9NUA8 ZBT40_HUMAN zinc finger and BTB domain containing 40 1100 bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216) CCAGCATTCAGGTCAGTACCC 0.507000 26 93 2.65835e-16 3.7572e-16 1 1 0 OR10X1 128367 broad.mit.edu 37 1 158549397 158549397 + Missense_Mutation SNP A A T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:158549397A>T ENST00000368150.1 - 1 292 c.293T>A c.(292-294)cTg>cAg p.L98Q NM_001004477.1 NP_001004477.1 Q8NGY0 O10X1_HUMAN olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene) 98 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1) 37 all_hematologic(112;0.0378) TAGATCTTCCAGCATCTTGGG 0.498000 15 75 0 0 1 0 0 C1orf172 126695 broad.mit.edu 37 1 27278351 27278351 + Missense_Mutation SNP T T C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:27278351T>C ENST00000320567.5 - 2 609 c.521A>G c.(520-522)tAc>tGc p.Y174C NM_152365.2 NP_689578.2 Q8NAX2 CA172_HUMAN chromosome 1 open reading frame 172 174 NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 17 all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.37e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.22e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419) GGCCCTCGGGTAGGGATACAC 0.657000 23 64 0 0 1 0 0 IBSP 3381 broad.mit.edu 37 4 88731895 88731895 + Silent SNP T T C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr4:88731895T>C ENST00000226284.5 + 6 451 c.384T>C c.(382-384)gcT>gcC p.A128A NM_004967.3 NP_004958.2 P21815 SIAL_HUMAN integrin-binding sialoprotein 128 Asp/Glu-rich (acidic). biomineral tissue development|cell adhesion|ossification p.A128A(1) breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10) 21 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154) CAGGGTTAGCTGCAATCCAGC 0.398000 20 76 0 0 1 0 0 MPP2 4355 broad.mit.edu 37 17 41959867 41959867 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr17:41959867G>A ENST00000269095.4 - 6 770 c.466C>T c.(466-468)Cgc>Tgc p.R156C MPP2_ENST00000518766.1_Missense_Mutation_p.R201C|MPP2_ENST00000520305.1_Missense_Mutation_p.R17C|MPP2_ENST00000377184.3_Missense_Mutation_p.R173C|MPP2_ENST00000461854.1_Missense_Mutation_p.R180C|MPP2_ENST00000536246.1_Missense_Mutation_p.R145C|MPP2_ENST00000523501.1_Missense_Mutation_p.R145C|MPP2_ENST00000473246.1_5'UTR NM_001278370.1|NM_001278381.1|NM_005374.3 NP_001265299.1|NP_001265310.1|NP_005365.3 Q14168 MPP2_HUMAN membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2) 180 signal transduction cell surface|integral to plasma membrane|membrane fraction guanylate kinase activity breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1) 29 Breast(137;0.00314) BRCA - Breast invasive adenocarcinoma(366;0.12) CCCTCCACGCGGAACGTTACA 0.552000 9 45 0 0 1 0 0 WAS 7454 broad.mit.edu 37 X 48546814 48546814 + Silent SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chrX:48546814G>A ENST00000376701.4 + 9 978 c.903G>A c.(901-903)gaG>gaA p.E301E NM_000377.2 NP_000368.1 P42768 WASP_HUMAN Wiskott-Aldrich syndrome 301 blood coagulation|defense response|epidermis development|immune response|T cell receptor signaling pathway actin cytoskeleton|cytosol identical protein binding|small GTPase regulator activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(4)|skin(1)|upper_aerodigestive_tract(1) 28 all_lung(315;1.27e-10) GTGGGCTGGAGGCTGTGCGGC 0.577000 """Mis, N, F, S""" lymphoma 8 28 0 0 1 0 0 COL7A1 1294 broad.mit.edu 37 3 48613831 48613831 + Splice_Site SNP A A T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr3:48613831A>T ENST00000328333.8 - 69 5880 c.e69+1 COL7A1_ENST00000454817.1_Splice_Site NM_000094.3 NP_000085.1 Q02388 CO7A1_HUMAN collagen, type VII, alpha 1 cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 137 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) TGGGGGCCTCACCTGCTCCCC 0.592000 4 25 0 0 1 0 0 TAB3 257397 broad.mit.edu 37 X 30873434 30873434 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chrX:30873434C>A ENST00000378933.1 - 3 525 c.348G>T c.(346-348)caG>caT p.Q116H TAB3_ENST00000288422.2_Missense_Mutation_p.Q116H|TAB3_ENST00000378932.2_Missense_Mutation_p.Q116H|TAB3_ENST00000378930.3_Missense_Mutation_p.Q116H NM_152787.3 NP_690000.2 Q8N5C8 TAB3_HUMAN TGF-beta activated kinase 1/MAP3K7 binding protein 3 116 activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane|plasma membrane protein binding|zinc ion binding NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1) 27 AACATATCAGCTGTTTACCTG 0.453000 17 39 6.94344e-10 8.6523e-10 1 1 0 LRP1B 53353 broad.mit.edu 37 2 141032055 141032055 + Silent SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr2:141032055C>T ENST00000389484.3 - 85 14051 c.13080G>A c.(13078-13080)aaG>aaA p.K4360K NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 4360 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) ACCTTACACACTTGTCAACCT 0.403000 TSP Lung(27;0.18) 24 62 0 0 1 0 0 FAM131B 9715 broad.mit.edu 37 7 143054034 143054034 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr7:143054034G>T ENST00000409408.1 - 6 2316 c.608C>A c.(607-609)gCc>gAc p.A203D FAM131B_ENST00000409222.3_Missense_Mutation_p.A203D|FAM131B_ENST00000409346.1_Missense_Mutation_p.A203D|FAM131B_ENST00000409578.1_Missense_Mutation_p.A219D|FAM131B_ENST00000443739.2_Missense_Mutation_p.A231D Q86XD5 F131B_HUMAN family with sequence similarity 131, member B 203 breast(1)|endometrium(4)|large_intestine(3)|lung(13)|ovary(1)|skin(2) 24 Melanoma(164;0.205) GGCTTCCCAGGCATCTGACGA 0.542000 9 62 0.00829132 0.008594 1 1 0 TRMT2B 79979 broad.mit.edu 37 X 100274347 100274347 + Missense_Mutation SNP A A G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chrX:100274347A>G ENST00000338687.7 - 11 1884 c.1079T>C c.(1078-1080)tTg>tCg p.L360S TRMT2B_ENST00000545398.1_Missense_Mutation_p.L405S|TRMT2B_ENST00000372936.3_Missense_Mutation_p.L405S|TRMT2B_ENST00000372931.5_Missense_Mutation_p.L405S|TRMT2B_ENST00000372939.1_Missense_Mutation_p.L360S|TRMT2B_ENST00000372935.1_Missense_Mutation_p.L405S Q96GJ1 TRM2_HUMAN tRNA methyltransferase 2 homolog B (S. cerevisiae) 405 tRNA (uracil-5-)-methyltransferase activity breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 24 CAGCCCTGGCAAAATCTTCTC 0.483000 15 59 0 0 1 0 0 CTBP1-AS2 92070 broad.mit.edu 37 4 1244607 1244607 + RNA SNP G G A rs112223170 TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr4:1244607G>A ENST00000581398.1 + 0 561 CTBP1-AS2_ENST00000357591.2_RNA|CTBP1-AS2_ENST00000514984.1_RNA|CTBP1-AS2_ENST00000578730.1_RNA NR_033339.1 TGGCTCCCGCGTGGACTTGCA 0.562000 14 51 0 0 1 0 0 LDB3 11155 broad.mit.edu 37 10 88477868 88477868 + Silent SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr10:88477868G>A ENST00000429277.2 + 11 1984 c.1839G>A c.(1837-1839)ccG>ccA p.P613P LDB3_ENST00000361373.4_Silent_p.P608P|LDB3_ENST00000263066.6_Silent_p.P498P|LDB3_ENST00000458213.2_Silent_p.P498P|LDB3_ENST00000352360.5_Silent_p.P351P NM_001171610.1 NP_001165081.1 O75112 LDB3_HUMAN LIM domain binding 3 608 LIM zinc-binding 2. cytoskeleton|perinuclear region of cytoplasm|pseudopodium zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1) 25 TCTTTGCCCCGCTGTGTGCCA 0.522000 15 101 0 0 1 0 0 TECTA 7007 broad.mit.edu 37 11 121000389 121000389 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:121000389G>A ENST00000392793.1 + 10 2681 c.2410G>A c.(2410-2412)Ggg>Agg p.G804R TECTA_ENST00000264037.2_Missense_Mutation_p.G804R O75443 TECTA_HUMAN tectorin alpha 804 VWFD 2. cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix TECTA/TBCEL(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 135 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) CCATCCTTCGGGGAAGCTGGA 0.438000 67 154 0 0 1 0 0 ARMC9 80210 broad.mit.edu 37 2 232196607 232196607 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr2:232196607G>T ENST00000349938.4 + 20 2070 c.1876G>T c.(1876-1878)Ggg>Tgg p.G626W ARMC9_ENST00000483477.1_3'UTR NM_001271466.1|NM_025139.3 NP_001258395.1|NP_079415.3 Q7Z3E5 ARMC9_HUMAN armadillo repeat containing 9 626 binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205) Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189) GGAGTACCTGGGGGTAAGTGC 0.512000 3 26 1.024e-07 1.21526e-07 1 1 0 ZNF831 128611 broad.mit.edu 37 20 57766453 57766453 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr20:57766453G>T ENST00000371030.2 + 1 379 c.379G>T c.(379-381)Ggc>Tgc p.G127C NM_178457.1 NP_848552.1 Q5JPB2 ZN831_HUMAN zinc finger protein 831 127 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) CCTGTCGCCGGGCCTGGGCCC 0.682000 32 59 5.77227e-19 8.38549e-19 1 1 0 BAGE2 85319 broad.mit.edu 37 21 11047546 11047546 + RNA SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr21:11047546C>A ENST00000470054.1 - 0 708 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) GTATGATACCCTTTGTCACAC 0.338000 16 331 7.07596e-05 7.73082e-05 1 1 0 IGLV5-48 28780 broad.mit.edu 37 22 22707616 22707616 + RNA SNP C C G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr22:22707616C>G ENST00000390293.1 + 0 204 CCCGGTATCTCCTGAGCTACT 0.532000 70 16 0 0 1 0 0 CNKSR2 22866 broad.mit.edu 37 X 21534654 21534654 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chrX:21534654G>T ENST00000425654.2 + 9 1342 c.862G>T c.(862-864)Ggt>Tgt p.G288C CNKSR2_ENST00000379510.3_Missense_Mutation_p.G288C|CNKSR2_ENST00000279451.4_Missense_Mutation_p.G288C|CNKSR2_ENST00000543067.1_Intron NM_001168647.1 NP_001162118.1 Q8WXI2 CNKR2_HUMAN connector enhancer of kinase suppressor of Ras 2 288 PDZ. regulation of signal transduction cytoplasm|membrane protein binding breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3) 61 GGACCCGAGTGGTGTTATCTT 0.423000 22 70 3.62473e-10 4.55223e-10 1 1 0 AKNA 80709 broad.mit.edu 37 9 117119166 117119166 + Silent SNP T T C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr9:117119166T>C ENST00000307564.4 - 13 2984 c.2823A>G c.(2821-2823)ccA>ccG p.P941P AKNA_ENST00000374075.5_Silent_p.P860P|AKNA_ENST00000374088.3_Silent_p.P941P|AKNA_ENST00000223791.3_Silent_p.P401P NM_030767.4 NP_110394.3 Q7Z591 AKNA_HUMAN AT-hook transcription factor 941 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2) 51 GCCGGTGCTCTGGAGTCTGGG 0.587000 40 89 0 0 1 0 0 FAM71A 149647 broad.mit.edu 37 1 212798307 212798307 + Nonsense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:212798307C>T ENST00000294829.3 + 1 519 c.88C>T c.(88-90)Cga>Tga p.R30* RP11-338C15.5_ENST00000427949.1_RNA NM_153606.3 NP_705834.2 Q8IYT1 FA71A_HUMAN family with sequence similarity 71, member A 30 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094) GAAACTGCAGCGACAACTGTA 0.468000 7 67 0 0 1 0 0 GPC4 2239 broad.mit.edu 37 X 132436931 132436931 + Nonsense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chrX:132436931G>T ENST00000370828.3 - 9 2159 c.1635C>A c.(1633-1635)tgC>tgA p.C545* GPC4_ENST00000535467.1_Nonsense_Mutation_p.C475* NM_001448.2 NP_001439.2 O75487 GPC4_HUMAN glypican 4 545 anatomical structure morphogenesis|cell proliferation anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1) 28 Acute lymphoblastic leukemia(192;0.000127) GGAACAAGATGCAGAAGACAG 0.468000 30 136 1.88708e-17 2.70462e-17 1 1 0 LDB2 9079 broad.mit.edu 37 4 16504338 16504338 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr4:16504338G>T ENST00000304523.5 - 8 1373 c.1050C>A c.(1048-1050)agC>agA p.S350R LDB2_ENST00000515064.1_Missense_Mutation_p.S348R|RP11-446J8.1_ENST00000512370.1_RNA|LDB2_ENST00000441778.2_3'UTR|LDB2_ENST00000502640.1_3'UTR NM_001290.3 NP_001281.1 O43679 LDB2_HUMAN LIM domain binding 2 350 LIM domain binding|transcription cofactor activity breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1) 33 TGTTCCACGGGCTGTTGTTCC 0.517000 73 170 6.8682e-38 1.10038e-37 1 1 0 OR2T34 127068 broad.mit.edu 37 1 248738035 248738035 + Silent SNP A A T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:248738035A>T ENST00000328782.2 - 1 45 c.24T>A c.(22-24)tcT>tcA p.S8S NM_001001821.1 NP_001001821.1 Q8NGX1 O2T34_HUMAN olfactory receptor, family 2, subfamily T, member 34 8 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3) 43 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TTTGATTCTGAGAAGTCTGAT 0.448000 16 85 0 0 1 0 0 LOC645166 645166 broad.mit.edu 37 1 148932875 148932875 + RNA SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:148932875G>A ENST00000539543.1 + 0 131 NR_027355.1 GGTGGGAGACGGGTGAGGTAC 0.632000 10 256 0 0 1 0 0 NOD2 64127 broad.mit.edu 37 16 50745496 50745496 + Silent SNP G G C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr16:50745496G>C ENST00000300589.2 + 4 1779 c.1674G>C c.(1672-1674)ctG>ctC p.L558L NM_022162.1 NP_071445.1 Q9HC29 NOD2_HUMAN nucleotide-binding oligomerization domain containing 2 558 NACHT. activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cell surface|cytosol|plasma membrane|vesicle ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3) 52 all_cancers(37;0.0156) TGTGGGGCCTGGGCATGTGCT 0.642000 7 10 0 0 1 0 0 DCP1A 55802 broad.mit.edu 37 3 53381435 53381435 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr3:53381435G>T ENST00000607628.1 - 1 219 c.110C>A c.(109-111)aCc>aAc p.T37N DCP1A_ENST00000294241.6_Missense_Mutation_p.T37N|DCP1A_ENST00000606822.1_Missense_Mutation_p.T37N|DCP1A_ENST00000480258.1_5'UTR NM_018403.5 NP_060873.4 Q9NPI6 DCP1A_HUMAN decapping mRNA 1A 37 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytoplasmic mRNA processing body|cytosol|nucleus hydrolase activity|protein binding breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 BRCA - Breast invasive adenocarcinoma(193;0.000164)|KIRC - Kidney renal clear cell carcinoma(197;0.00525)|Kidney(197;0.00579)|OV - Ovarian serous cystadenocarcinoma(275;0.0647) GGGGCAGAAGGTGTACAGAGC 0.657000 9 30 0.000274275 0.000293932 1 1 0 OGFOD3 79701 broad.mit.edu 37 17 80373317 80373317 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr17:80373317C>A ENST00000313056.5 - 2 412 c.261G>T c.(259-261)gaG>gaT p.E87D OGFOD3_ENST00000329197.5_Missense_Mutation_p.E87D NM_024648.2|NM_175902.4 NP_078924.1|NP_787098.3 2-oxoglutarate and iron-dependent oxygenase domain containing 3 AGCAGGGCACCTCGATGAATC 0.592000 18 124 2.4624e-09 3.02639e-09 1 1 0 ARSI 340075 broad.mit.edu 37 5 149681814 149681814 + Silent SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr5:149681814G>T ENST00000328668.7 - 1 702 c.123C>A c.(121-123)gcC>gcA p.A41A NM_001012301.2 NP_001012301.1 Q5FYB1 ARSI_HUMAN arylsulfatase family, member I 41 endoplasmic reticulum|extracellular region arylsulfatase activity|metal ion binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 23 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GGGGCGGAGCGGCCGAGGGCT 0.672000 7 12 5.4927e-09 6.65953e-09 1 1 0 KRTAP27-1 643812 broad.mit.edu 37 21 31709464 31709464 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr21:31709464G>T ENST00000382835.2 - 1 548 c.523C>A c.(523-525)Cct>Act p.P175T NM_001077711.1 NP_001071179.1 Q3LI81 KR271_HUMAN keratin associated protein 27-1 175 intermediate filament endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(1) 18 TTGACCAGAGGTCTACAGGAA 0.468000 27 54 2.27525e-19 3.33337e-19 1 1 0 MATN3 4148 broad.mit.edu 37 2 20200294 20200294 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr2:20200294C>T ENST00000407540.3 - 5 1138 c.1076G>A c.(1075-1077)tGt>tAt p.C359Y AC079145.4_ENST00000416575.1_RNA|MATN3_ENST00000421259.2_Missense_Mutation_p.C317Y NM_002381.4 NP_002372.1 O15232 MATN3_HUMAN matrilin 3 359 EGF-like 3. skeletal system development proteinaceous extracellular matrix extracellular matrix structural constituent|protein binding central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(1) 13 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AATGTGCTGACACCCATGGGT 0.393000 11 19 0 0 1 0 0 GALR2 8811 broad.mit.edu 37 17 74072917 74072917 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr17:74072917G>A ENST00000329003.3 + 2 659 c.569G>A c.(568-570)tGc>tAc p.C190Y NM_003857.2 NP_003848.1 O43603 GALR2_HUMAN galanin receptor 2 190 digestion|elevation of cytosolic calcium ion concentration|feeding behavior|learning or memory|muscle contraction integral to membrane|plasma membrane galanin receptor activity cervix(1)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 8 ATGGACATCTGCACCTTCGTC 0.692000 6 57 0 0 1 0 0 SPATA31A6 389730 broad.mit.edu 37 9 43627843 43627843 + Silent SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr9:43627843G>T ENST00000332857.6 - 4 872 c.844C>A c.(844-846)Cgg>Agg p.R282R SPATA31A6_ENST00000496386.1_5'UTR NM_001145196.1 NP_001138668.1 SPATA31 subfamily A, member 6 TCCTGCCACCGGGAGGAGGCA 0.567000 50 80 1.84395e-34 2.92502e-34 1 1 0 KRTAP1-5 83895 broad.mit.edu 37 17 39182992 39182992 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr17:39182992G>A ENST00000361883.5 - 1 462 c.416C>T c.(415-417)aCg>aTg p.T139M NM_031957.1 NP_114163.1 Q9BYS1 KRA15_HUMAN keratin associated protein 1-5 139 15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP]. keratin filament central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 17 Breast(137;0.00043) STAD - Stomach adenocarcinoma(17;0.000371) GGATGGGGGCGTGCAGCTCAC 0.672000 17 44 0 0 1 0 0 CHD8 57680 broad.mit.edu 37 14 21899363 21899363 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr14:21899363C>A ENST00000399982.2 - 1 504 c.440G>T c.(439-441)aGt>aTt p.S147I CHD8_ENST00000557364.1_Missense_Mutation_p.S147I|CHD8_ENST00000555962.1_Intron|CHD8_ENST00000430710.3_Intron NM_001170629.1 NP_001164100.1 Q9HCK8 CHD8_HUMAN chromodomain helicase DNA binding protein 8 147 ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent MLL1 complex ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 85 all_cancers(95;0.00121) Epithelial(56;2.55e-06)|all cancers(55;1.73e-05) GBM - Glioblastoma multiforme(265;0.00424) CCCTCCAGCACTACTGGAGGA 0.552000 11 17 5.50884e-06 6.18744e-06 1 1 0 APOB 338 broad.mit.edu 37 2 21229237 21229237 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr2:21229237C>A ENST00000233242.1 - 26 10630 c.10503G>T c.(10501-10503)aaG>aaT p.K3501N NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 3501 Heparin-binding. cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) GAACCGAACCCTTGACATCTC 0.468000 17 55 5.03518e-11 6.46105e-11 1 1 0 ASB9 140462 broad.mit.edu 37 X 15266947 15266947 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chrX:15266947C>A ENST00000546332.1 - 7 1162 c.679G>T c.(679-681)Gcc>Tcc p.A227S ASB9_ENST00000473862.1_5'UTR|ASB9_ENST00000380488.4_Missense_Mutation_p.A227S|ASB9_ENST00000380485.3_Missense_Mutation_p.A227S|ASB9_ENST00000380483.3_Missense_Mutation_p.A217S NM_001168531.1 NP_001162003.1 Q96DX5 ASB9_HUMAN ankyrin repeat and SOCS box containing 9 227 intracellular signal transduction breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(10) 15 Hepatocellular(33;0.183) GCATTCTTGGCCTGGGTGTCC 0.572000 28 55 1.42536e-11 1.84909e-11 1 1 0 TYR 7299 broad.mit.edu 37 11 88911152 88911152 + Missense_Mutation SNP T T A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:88911152T>A ENST00000263321.5 + 1 533 c.31T>A c.(31-33)Tgg>Agg p.W11R TYR_ENST00000526139.1_3'UTR NM_000372.4 NP_000363.1 P14679 TYRO_HUMAN tyrosinase 11 eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033) Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157) CTGCCTGCTGTGGAGTTTCCA 0.532000 25 67 0 0 1 0 0 SLC14A1 6563 broad.mit.edu 37 18 43319537 43319537 + Missense_Mutation SNP T T C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr18:43319537T>C ENST00000321925.4 + 8 1088 c.856T>C c.(856-858)Tgg>Cgg p.W286R SLC14A1_ENST00000589700.1_Silent_p.S236S|RP11-116O18.3_ENST00000586213.1_RNA|SLC14A1_ENST00000591541.1_5'UTR|SLC14A1_ENST00000436407.3_Missense_Mutation_p.W342R|SLC14A1_ENST00000402943.2_Missense_Mutation_p.W181R|SLC14A1_ENST00000502059.2_Missense_Mutation_p.W178R|SLC14A1_ENST00000586142.1_Missense_Mutation_p.W286R|SLC14A1_ENST00000535474.1_Missense_Mutation_p.W154R|RP11-116O18.3_ENST00000589510.1_RNA|SLC14A1_ENST00000415427.3_Missense_Mutation_p.W342R NM_001128588.3|NM_001146036.2|NM_015865.6 NP_001122060.3|NP_001139508.2|NP_056949.4 Q13336 UT1_HUMAN solute carrier family 14 (urea transporter), member 1 286 integral to plasma membrane urea transmembrane transporter activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 21 CTTTGGACTCTGGGGTTTCAA 0.532000 10 71 0 0 1 0 0 DPEP1 1800 broad.mit.edu 37 16 89702743 89702743 + Silent SNP C C T rs145941460 byFrequency TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr16:89702743C>T ENST00000393092.3 + 4 600 c.309C>T c.(307-309)gaC>gaT p.D103D DPEP1_ENST00000261615.4_Silent_p.D103D|DPEP1_ENST00000421184.1_Silent_p.D103D NM_004413.3 NP_004404.1 P16444 DPEP1_HUMAN dipeptidase 1 (renal) 103 proteolysis anchored to membrane|apical plasma membrane|microvillus membrane dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity|protein binding large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1) 14 all_lung(18;0.0054)|all_hematologic(23;0.094) BRCA - Breast invasive adenocarcinoma(80;0.0258) Cilastatin(DB01597) AGCAGATGGACGTGGTCCACC 0.647000 6 15 0 0 1 0 0 WDR64 128025 broad.mit.edu 37 1 241920756 241920756 + Missense_Mutation SNP A A G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:241920756A>G ENST00000366552.2 + 14 2119 c.1912A>G c.(1912-1914)Act>Gct p.T638A WDR64_ENST00000437684.2_Missense_Mutation_p.T638A NM_144625.4 NP_653226.4 B1ANS9 WDR64_HUMAN WD repeat domain 64 638 breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 Ovarian(103;0.103) all_cancers(173;0.0121) OV - Ovarian serous cystadenocarcinoma(106;0.0116) TTCTCAACCTACTGATGTAAG 0.348000 7 31 0 0 1 0 0 CDH10 1008 broad.mit.edu 37 5 24509739 24509739 + Nonsense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr5:24509739C>A ENST00000264463.4 - 7 1699 c.1192G>T c.(1192-1194)Gaa>Taa p.E398* NM_006727.3 NP_006718.2 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 (T2-cadherin) 398 Cadherin 4. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4) 185 STAD - Stomach adenocarcinoma(35;0.0556) GTGCCCACTTCAATATCTTCA 0.393000 HNSCC(23;0.051) 42 78 4.80596e-09 5.83953e-09 1 1 0 OR1N2 138882 broad.mit.edu 37 9 125315590 125315590 + Missense_Mutation SNP T T A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr9:125315590T>A ENST00000373688.2 + 1 200 c.142T>A c.(142-144)Ttc>Atc p.F48I NM_001004457.1 NP_001004457.1 Q8NGR9 OR1N2_HUMAN olfactory receptor, family 1, subfamily N, member 2 48 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3) 26 GTTTGGCATCTTCCTTGGCAT 0.527000 28 73 0 0 1 0 0 TRPV3 162514 broad.mit.edu 37 17 3436101 3436101 + Silent SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr17:3436101G>A ENST00000301365.4 - 8 1046 c.915C>T c.(913-915)acC>acT p.T305T TRPV3_ENST00000576742.1_Silent_p.T305T|TRPV3_ENST00000572519.1_Silent_p.T305T Q8NET8 TRPV3_HUMAN transient receptor potential cation channel, subfamily V, member 3 305 integral to membrane calcium channel activity breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 35 Menthol(DB00825) CCTCGGCCACGGTCACCAGGG 0.582000 20 19 0 0 1 0 0 FHOD3 80206 broad.mit.edu 37 18 33952676 33952676 + Silent SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr18:33952676G>A ENST00000257209.4 + 3 428 c.306G>A c.(304-306)acG>acA p.T102T FHOD3_ENST00000590592.1_Silent_p.T102T|FHOD3_ENST00000445677.1_Silent_p.T102T|FHOD3_ENST00000359247.4_Silent_p.T102T NM_025135.2 NP_079411.2 Q2V2M9 FHOD3_HUMAN formin homology 2 domain containing 3 102 GBD/FH3. actin cytoskeleton organization cytoplasm|cytoskeleton actin binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1) 90 all_epithelial(2;0.0181)|Colorectal(2;0.0195) TCCTAAGGACGCAGCTGTCTG 0.502000 12 13 0 0 1 0 0 PANK4 55229 broad.mit.edu 37 1 2452731 2452731 + Silent SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:2452731C>A ENST00000378466.3 - 3 243 c.231G>T c.(229-231)ccG>ccT p.P77P PANK4_ENST00000491212.1_5'UTR|PANK4_ENST00000435556.3_Silent_p.P77P NM_018216.1 NP_060686.1 Q9NVE7 PANK4_HUMAN pantothenate kinase 4 77 coenzyme A biosynthetic process cytoplasm ATP binding|pantothenate kinase activity breast(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4) 23 all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634) all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123) Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201) TCTCATAGGGCGGCTCATGTT 0.542000 34 133 6.90743e-12 8.9973e-12 1 1 0 ADAMTSL4 54507 broad.mit.edu 37 1 150527964 150527964 + Missense_Mutation SNP C C T rs143798746 TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:150527964C>T ENST00000271643.4 + 8 1530 c.1294C>T c.(1294-1296)Cgt>Tgt p.R432C ADAMTSL4_ENST00000369038.2_Missense_Mutation_p.R432C|ADAMTSL4_ENST00000369039.5_Missense_Mutation_p.R455C|ADAMTSL4_ENST00000369041.5_Missense_Mutation_p.R432C|RP11-54A4.2_ENST00000442435.2_RNA NM_019032.4 NP_061905.2 Q6UY14 ATL4_HUMAN ADAMTS-like 4 432 apoptosis|positive regulation of apoptosis metalloendopeptidase activity|protease binding breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3) 32 all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) CTTCTATGTCCGTCACACTGA 0.602000 15 31 0 0 1 0 0 NOTCH2 4853 broad.mit.edu 37 1 120502050 120502050 + Missense_Mutation SNP T T C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:120502050T>C ENST00000256646.2 - 12 2210 c.1991A>G c.(1990-1992)aAt>aGt p.N664S NM_024408.3 NP_077719.2 Q04721 NOTC2_HUMAN notch 2 664 EGF-like 17; calcium-binding (Potential). anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 158 all_neural(166;0.153) all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809) Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133) ACTGTAGCGATTAATGCCATC 0.433000 """N, F, Mis""" """marginal zone lymphoma, DLBCL""" Alagille Syndrome 21 50 0 0 1 0 0 KIAA0195 9772 broad.mit.edu 37 17 73489806 73489806 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr17:73489806G>A ENST00000314256.7 + 18 2610 c.2216G>A c.(2215-2217)cGa>cAa p.R739Q KIAA0195_ENST00000375248.5_Missense_Mutation_p.R749Q|KIAA0195_ENST00000579208.1_Missense_Mutation_p.R390Q NM_014738.4 NP_055553.3 Q12767 K0195_HUMAN KIAA0195 739 ATP biosynthetic process|cation transport integral to membrane ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism p.R739L(1) breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1) 42 all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246) all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154) TTCTACCAGCGAGCCTGCCTG 0.607000 16 141 0 0 1 0 0 SIX2 10736 broad.mit.edu 37 2 45233522 45233522 + Silent SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr2:45233522C>T ENST00000303077.6 - 2 982 c.663G>A c.(661-663)acG>acA p.T221T NM_016932.4 NP_058628.3 Q9NPC8 SIX2_HUMAN SIX homeobox 2 221 nucleus sequence-specific DNA binding transcription factor activity endometrium(6)|large_intestine(3)|lung(8)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 22 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) AGTGGTCTGGCGTCCCCGATG 0.652000 8 182 0 0 1 0 0 OR2W5 441932 broad.mit.edu 37 1 247654640 247654640 + RNA SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:247654640C>T ENST00000522351.1 + 0 271 A6NFC9 OR2W5_HUMAN sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4) 39 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.222) OV - Ovarian serous cystadenocarcinoma(106;0.0188) TTTCTTAGATCTCTGCTTTAC 0.532000 15 54 0 0 1 0 0 ATXN2 6311 broad.mit.edu 37 12 111954044 111954044 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr12:111954044G>A ENST00000377617.3 - 10 1930 c.1769C>T c.(1768-1770)tCg>tTg p.S590L ATXN2_ENST00000535949.1_Missense_Mutation_p.S301L|ATXN2_ENST00000550104.1_Missense_Mutation_p.S590L|ATXN2_ENST00000389153.4_Missense_Mutation_p.S325L|ATXN2_ENST00000542287.2_Missense_Mutation_p.S325L NM_002973.3 NP_002964.3 Q99700 ATX2_HUMAN ataxin 2 590 Pro-rich. cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network protein C-terminus binding|RNA binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 37 GGATGGCCGCGAGGGGGGCCT 0.607000 18 20 0 0 1 0 0 CT47B1 643311 broad.mit.edu 37 X 120008940 120008940 + Silent SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chrX:120008940C>A ENST00000371311.3 - 1 839 c.585G>T c.(583-585)tcG>tcT p.S195S NM_001145718.1 NP_001139190.1 P0C2W7 CT47B_HUMAN cancer/testis antigen family 47, member B1 195 breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1) 22 CCTCCTGGACCGACGCAGCCT 0.706000 14 74 6.31663e-08 7.5123e-08 1 1 0 PPP1R13L 10848 broad.mit.edu 37 19 45899517 45899517 + Splice_Site SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:45899517C>A ENST00000418234.2 - 6 890 c.811_splice c.e6-1 p.R271_splice PPP1R13L_ENST00000360957.5_Splice_Site_p.R271_splice NM_001142502.1 NP_001135974.1 Q8WUF5 IASPP_HUMAN protein phosphatase 1, regulatory subunit 13 like 271 Pro-rich. apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus transcription corepressor activity|transcription factor binding breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0182) GACGTCCAGGCCTGCGGGGCG 0.667000 14 23 0.00185496 0.00194515 1 1 0 BIN3 55909 broad.mit.edu 37 8 22481545 22481545 + Silent SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr8:22481545C>A ENST00000276416.6 - 8 566 c.498G>T c.(496-498)cgG>cgT p.R166R BIN3_ENST00000519335.1_5'UTR|BIN3_ENST00000519513.1_Silent_p.R112R|BIN3_ENST00000399977.4_Silent_p.R118R NM_018688.4 NP_061158.1 Q9NQY0 BIN3_HUMAN bridging integrator 3 166 BAR. actin filament organization|barrier septum formation|cell cycle|protein localization|unidimensional cell growth cytoplasm|cytoskeleton cytoskeletal adaptor activity kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1) 9 Prostate(55;0.0424)|Breast(100;0.102)|all_epithelial(46;0.143) BRCA - Breast invasive adenocarcinoma(99;0.00664)|Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727) CCCGCACAGGCCGCAGCTCCT 0.617000 10 12 0.00136819 0.0014374 1 1 0 MAGI3 260425 broad.mit.edu 37 1 114193781 114193781 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:114193781G>T ENST00000369615.1 + 14 2455 c.2393G>T c.(2392-2394)cGa>cTa p.R798L MAGI3_ENST00000307546.9_Missense_Mutation_p.R798L|MAGI3_ENST00000369611.4_Missense_Mutation_p.R798L|MAGI3_ENST00000369617.4_Missense_Mutation_p.R823L NM_152900.2 NP_690864.2 Q5TCQ9 MAGI3_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 3 823 Interaction with BAI1.|PDZ 4. apoptosis|interspecies interaction between organisms|intracellular signal transduction nucleus|tight junction ATP binding|guanylate kinase activity|protein binding NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 41 Lung SC(450;0.184) all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) ACTGCTGCTCGAAATGGCCAT 0.433000 15 41 1.37285e-15 1.91499e-15 1 1 0 GSTA1 2938 broad.mit.edu 37 6 52661068 52661068 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr6:52661068C>A ENST00000334575.5 - 4 339 c.184G>T c.(184-186)Ggg>Tgg p.G62W GSTA1_ENST00000493331.1_Intron NM_145740.3 NP_665683.1 P08263 GSTA1_HUMAN glutathione S-transferase alpha 1 62 GST N-terminal. glutathione metabolic process|xenobiotic metabolic process cytosol glutathione transferase activity large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1) 12 Lung NSC(77;0.118) Amsacrine(DB00276)|Busulfan(DB01008)|Glutathione(DB00143) AGCTTCATCCCATCAATCTCA 0.428000 68 88 2.32099e-22 3.4916e-22 1 1 0 VAT1L 57687 broad.mit.edu 37 16 78005819 78005819 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr16:78005819C>A ENST00000302536.2 + 8 1303 c.1150C>A c.(1150-1152)Cca>Aca p.P384T NM_020927.1 NP_065978.1 Q9HCJ6 VAT1L_HUMAN vesicle amine transport 1-like 384 oxidoreductase activity|zinc ion binding central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 24 AGAAAAGACCCCAACTCCACT 0.532000 OREG0023950 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 71 102 9.4991e-31 1.49101e-30 1 1 0 OPN5 221391 broad.mit.edu 37 6 47779441 47779441 + Missense_Mutation SNP T T A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr6:47779441T>A ENST00000489301.2 + 6 1115 c.1030T>A c.(1030-1032)Tct>Act p.S344T OPN5_ENST00000244799.4_3'UTR|OPN5_ENST00000393699.2_Missense_Mutation_p.S344T|OPN5_ENST00000371211.2_Missense_Mutation_p.S344T Q6U736 OPN5_HUMAN opsin 5 344 phototransduction|protein-chromophore linkage|visual perception integral to membrane G-protein coupled receptor activity|photoreceptor activity endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2) 29 CAGGAAGTCTTCTGCTGTGCT 0.373000 11 41 0 0 1 0 0 KIAA0754 643314 broad.mit.edu 37 1 39878133 39878133 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:39878133G>T ENST00000530275.1 + 1 1983 c.1788G>T c.(1786-1788)gaG>gaT p.E596D MACF1_ENST00000545844.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000564288.1_Intron NM_015038.1 NP_055853.1 O94854 K0754_HUMAN KIAA0754 596 central_nervous_system(1)|large_intestine(6)|skin(1) 8 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) CACTTTTGGAGGATCAAGCTC 0.483000 22 48 7.33628e-21 1.0912e-20 1 1 0 UBASH3B 84959 broad.mit.edu 37 11 122650349 122650349 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:122650349G>A ENST00000284273.5 + 4 922 c.547G>A c.(547-549)Gag>Aag p.E183K NM_032873.4 NP_116262.2 Q8TF42 UBS3B_HUMAN ubiquitin associated and SH3 domain containing B 183 cytoplasm|nucleus protein tyrosine phosphatase activity breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2) 26 Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104) BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463) AGACAGTGCGGAGGTCCTCAA 0.562000 30 129 0 0 1 0 0 OR5T1 390155 broad.mit.edu 37 11 56043651 56043651 + Silent SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:56043651C>A ENST00000313033.2 + 1 623 c.537C>A c.(535-537)tcC>tcA p.S179S NM_001004745.1 NP_001004745.1 Q8NG75 OR5T1_HUMAN olfactory receptor, family 5, subfamily T, member 1 179 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 43 Esophageal squamous(21;0.00448) TTAGCCTGTCCTTCTGTGGAT 0.418000 58 153 7.36392e-32 1.16237e-31 1 1 0 TMEM256 254863 broad.mit.edu 37 17 7306508 7306508 + Silent SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr17:7306508G>A ENST00000302422.3 - 4 271 c.219C>T c.(217-219)tcC>tcT p.S73S C17orf61-PLSCR3_ENST00000573331.1_Intron|PLSCR3_ENST00000535512.1_Intron NM_152766.3 NP_689979.1 transmembrane protein 256 AGGTCGTTCCGGAAGCTAGCA 0.557000 22 40 0 0 1 0 0 SVEP1 79987 broad.mit.edu 37 9 113149586 113149586 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr9:113149586G>T ENST00000401783.2 - 42 10375 c.10039C>A c.(10039-10041)Cac>Aac p.H3347N SVEP1_ENST00000297826.5_Missense_Mutation_p.H1273N|SVEP1_ENST00000374469.1_Missense_Mutation_p.H3324N NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 3347 Sushi 32. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 GGGACTGGGTGGCTCCAGGTT 0.473000 29 67 6.38683e-12 8.33372e-12 1 1 0 PRAME 23532 broad.mit.edu 37 22 22893465 22893465 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr22:22893465G>T ENST00000543184.1 - 3 930 c.68C>A c.(67-69)cCa>cAa p.P23Q PRAME_ENST00000398741.1_Missense_Mutation_p.P23Q|PRAME_ENST00000539862.1_Missense_Mutation_p.P7Q|PRAME_ENST00000402697.1_Missense_Mutation_p.P23Q|PRAME_ENST00000406503.1_Missense_Mutation_p.P23Q|PRAME_ENST00000485532.1_5'UTR|PRAME_ENST00000405655.3_Missense_Mutation_p.P23Q|PRAME_ENST00000398743.2_Missense_Mutation_p.P23Q|PRAME_ENST00000424204.2_Missense_Mutation_p.P7Q NM_206953.1 NP_996836.1 P78395 PRAME_HUMAN preferentially expressed antigen in melanoma 23 apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent nucleus|plasma membrane retinoic acid receptor binding autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 36 all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17) all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05) READ - Rectum adenocarcinoma(21;0.0649) AAGTCTCCGTGGGCTTGTCCA 0.582000 53 194 4.10029e-35 6.51804e-35 1 1 0 GGT7 2686 broad.mit.edu 37 20 33439059 33439059 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr20:33439059G>A ENST00000336431.5 - 13 1744 c.1700C>T c.(1699-1701)gCg>gTg p.A567V GGT7_ENST00000469018.1_5'UTR NM_178026.2 NP_821158.2 Q9UJ14 GGT7_HUMAN gamma-glutamyltransferase 7 567 glutathione biosynthetic process integral to membrane acyltransferase activity|gamma-glutamyltransferase activity NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2) 20 GAGGCCCCGCGCAGCTCCATT 0.637000 11 50 0 0 1 0 0 NEB 4703 broad.mit.edu 37 2 152361993 152361993 + Splice_Site SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr2:152361993G>T ENST00000397345.3 - 165 23943 c.23742_splice c.e165+1 p.S7914_splice NEB_ENST00000604864.1_Splice_Site_p.S7914_splice|NEB_ENST00000409198.1_Splice_Site_p.S6213_splice|NEB_ENST00000603639.1_Splice_Site_p.S7914_splice|NEB_ENST00000172853.10_Splice_Site_p.S6213_splice|NEB_ENST00000509223.2_Splice_Site_p.S44_splice|NEB_ENST00000427231.2_Splice_Site_p.S7914_splice|NEB_ENST00000498015.2_5'UTR NM_001164508.1 NP_001157980.1 P20929 NEBU_HUMAN nebulin 6213 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) GGCCACTACCGAGCTAATGTG 0.483000 50 101 4.78724e-31 7.53e-31 1 1 0 TRRAP 8295 broad.mit.edu 37 7 98574281 98574281 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr7:98574281G>A ENST00000359863.4 + 54 8323 c.8114G>A c.(8113-8115)cGg>cAg p.R2705Q TRRAP_ENST00000446306.3_Missense_Mutation_p.R2687Q|TRRAP_ENST00000355540.3_Missense_Mutation_p.R2687Q NM_001244580.1 NP_001231509.1 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated protein 2705 FAT. histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2) 176 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) CTCTGGTTCCGGTCCACGCTG 0.542000 10 63 0 0 1 0 0 GPC5 2262 broad.mit.edu 37 13 92345680 92345680 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr13:92345680G>A ENST00000377067.3 + 3 937 c.565G>A c.(565-567)Gaa>Aaa p.E189K NM_004466.4 NP_004457.1 P78333 GPC5_HUMAN glypican 5 189 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) Lung NSC(4;0.00454) CAGTTCCCTGGAATACTCAGA 0.473000 5 99 0 0 1 0 0 GNL2 29889 broad.mit.edu 37 1 38034692 38034692 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:38034692G>A ENST00000373062.3 - 13 1726 c.1628C>T c.(1627-1629)tCt>tTt p.S543F GNL2_ENST00000462812.1_5'UTR NM_013285.2 NP_037417.1 Q13823 NOG2_HUMAN guanine nucleotide binding protein-like 2 (nucleolar) 543 ribosome biogenesis nucleolus GTP binding|GTPase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 30 Myeloproliferative disorder(586;0.0393) GTCATCCCCAGAAAACTGAGG 0.473000 24 61 0 0 1 0 0 CYP11A1 1583 broad.mit.edu 37 15 74659771 74659771 + Silent SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr15:74659771G>T ENST00000268053.6 - 1 310 c.156C>A c.(154-156)ccC>ccA p.P52P CYP11A1_ENST00000467407.1_5'UTR|CYP11A1_ENST00000541301.1_Silent_p.P52P NM_000781.2 NP_000772.2 P05108 CP11A_HUMAN cytochrome P450, family 11, subfamily A, polypeptide 1 52 C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process mitochondrial matrix cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 20 Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108) CACCAGGAGAGGGGATCTCAT 0.592000 25 87 5.35356e-11 6.83829e-11 1 1 0 CCL1 6346 broad.mit.edu 37 17 32688864 32688864 + Missense_Mutation SNP G G A rs150891376 byFrequency TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr17:32688864G>A ENST00000225842.3 - 2 197 c.128C>T c.(127-129)cCc>cTc p.P43L NM_002981.1 NP_002972.1 P22362 CCL1_HUMAN chemokine (C-C motif) ligand 1 43 cellular calcium ion homeostasis|chemotaxis|immune response|signal transduction|viral reproduction extracellular space chemokine activity Ovarian(249;0.0443)|Breast(31;0.133) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)|BRCA - Breast invasive adenocarcinoma(366;0.155) TGCCCTCAGGGGAATCTCTTG 0.473000 OREG0024322 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 63 123 0 0 1 0 0 EXT2 2132 broad.mit.edu 37 11 44129707 44129707 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:44129707C>T ENST00000395673.3 + 2 600 c.544C>T c.(544-546)Cgg>Tgg p.R182W EXT2_ENST00000529186.1_3'UTR|EXT2_ENST00000343631.3_Missense_Mutation_p.R149W|EXT2_ENST00000533608.1_Missense_Mutation_p.R149W|EXT2_ENST00000358681.4_Missense_Mutation_p.R149W NM_000401.3 NP_000392.3 Q93063 EXT2_HUMAN exostosin glycosyltransferase 2 149 glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 32 TGACATCAACCGGGCCTGTCT 0.517000 """Mis, N, F, S""" """exostoses, osteosarcoma""" Hereditary Multiple Exostoses 14 41 0 0 1 0 0 SERPINE3 647174 broad.mit.edu 37 13 51921175 51921175 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr13:51921175G>A ENST00000524365.1 + 6 1130 c.505G>A c.(505-507)Gag>Aag p.E169K SERPINE3_ENST00000521255.1_Missense_Mutation_p.E169K|SERPINE3_ENST00000400389.4_Missense_Mutation_p.E169K A8MV23 SERP3_HUMAN serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 3 169 regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity ovary(2) 2 GGGCCCCAGTGAGGGCCCTGG 0.567000 5 1 0 0 1 0 0 OR9A2 135924 broad.mit.edu 37 7 142724119 142724119 + Missense_Mutation SNP T T C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr7:142724119T>C ENST00000350513.2 - 1 163 c.101A>G c.(100-102)tAt>tGt p.Y34C NM_001001658.1 NP_001001658.1 Q8NGT5 OR9A2_HUMAN olfactory receptor, family 9, subfamily A, member 2 34 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(3)|endometrium(4)|large_intestine(1)|lung(14)|skin(3) 25 Melanoma(164;0.059) TGTCACTAAATAGAAGAAAAA 0.443000 44 50 0 0 1 0 0 COL28A1 340267 broad.mit.edu 37 7 7410418 7410418 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr7:7410418C>T ENST00000399429.3 - 33 3144 c.3004G>A c.(3004-3006)Ggg>Agg p.G1002R NM_001037763.2 NP_001032852.2 Q2UY09 COSA1_HUMAN collagen, type XXVIII, alpha 1 1002 cell adhesion basement membrane|collagen serine-type endopeptidase inhibitor activity cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 42 Ovarian(82;0.0789) UCEC - Uterine corpus endometrioid carcinoma (126;0.228) CCTGACATCCCAAATCCAGGT 0.373000 13 135 0 0 1 0 0 SLIT3 6586 broad.mit.edu 37 5 168098271 168098271 + Silent SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr5:168098271G>A ENST00000519560.1 - 34 4478 c.4059C>T c.(4057-4059)tgC>tgT p.C1353C SLIT3_ENST00000404867.3_Silent_p.C1353C|SLIT3_ENST00000332966.8_Silent_p.C1360C NM_001271946.1|NM_003062.2 NP_001258875.1|NP_003053.1 O75094 SLIT3_HUMAN slit homolog 3 (Drosophila) 1353 EGF-like 7. apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway extracellular space|mitochondrion calcium ion binding|Roundabout binding endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GGCGGCACTCGCACACCACGC 0.697000 11 29 0 0 1 0 0 ST8SIA3 51046 broad.mit.edu 37 18 55024674 55024674 + Missense_Mutation SNP C C A rs145313732 TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr18:55024674C>A ENST00000324000.3 + 3 2867 c.833C>A c.(832-834)cCg>cAg p.P278Q NM_015879.2 NP_056963.2 O43173 SIA8C_HUMAN ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3 278 glycosphingolipid biosynthetic process|N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3) 36 READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205) CTGGCTTGGCCGGGAAATATA 0.403000 60 66 1.65906e-26 2.55231e-26 1 1 0 OBSCN 84033 broad.mit.edu 37 1 228468281 228468281 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:228468281C>T ENST00000570156.2 + 35 9342 c.9268C>T c.(9268-9270)Cgc>Tgc p.R3090C OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.R2661C|OBSCN_ENST00000359599.6_Missense_Mutation_p.R1508C|OBSCN_ENST00000422127.1_Missense_Mutation_p.R2661C NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 2091 Ig-like 30. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) CGCAGAGGAGCGCGGCACCCT 0.632000 9 66 0 0 1 0 0 AMDHD2 51005 broad.mit.edu 37 16 2578516 2578516 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr16:2578516G>A ENST00000302956.4 + 8 1020 c.926G>A c.(925-927)gGa>gAa p.G309E CEMP1_ENST00000382350.1_Intron|AMDHD2_ENST00000413459.3_Missense_Mutation_p.G309E|AMDHD2_ENST00000565570.1_Intron|AMDHD2_ENST00000293971.6_Missense_Mutation_p.G309E Q9Y303 NAGA_HUMAN amidohydrolase domain containing 2 309 N-acetylglucosamine metabolic process N-acetylglucosamine-6-phosphate deacetylase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)|skin(2)|urinary_tract(2) 19 CACACGCTGGGACAGCAGGAA 0.682000 5 52 0 0 1 0 0 ZNF658 26149 broad.mit.edu 37 9 40772501 40772501 + Missense_Mutation SNP A A T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr9:40772501A>T ENST00000602553.1 - 5 3068 c.2774T>A c.(2773-2775)gTt>gAt p.V925D ZNF658_ENST00000441795.1_Intron|ZNF658_ENST00000377626.3_Missense_Mutation_p.V925D Q5TYW1 ZN658_HUMAN zinc finger protein 658 925 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 46 GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681) ATGTGCACTAACATATGACTT 0.443000 27 162 0 0 1 0 0 FAT4 79633 broad.mit.edu 37 4 126239639 126239639 + Silent SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr4:126239639G>T ENST00000394329.3 + 1 2086 c.2073G>T c.(2071-2073)ccG>ccT p.P691P NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 691 Cadherin 7. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 TCTTCTACCCGGTCCAATACT 0.498000 23 66 3.5997e-14 4.91127e-14 1 1 0 CXADR 1525 broad.mit.edu 37 21 18937895 18937895 + Missense_Mutation SNP G G A rs143764073 byFrequency TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr21:18937895G>A ENST00000284878.7 + 7 1731 c.983G>A c.(982-984)cGc>cAc p.R328H CXADR_ENST00000400165.1_Missense_Mutation_p.A189T|CXADR_ENST00000306618.10_Missense_Mutation_p.R287H|CXADR_ENST00000400166.1_Missense_Mutation_p.A241T|CXADR_ENST00000400169.1_Missense_Mutation_p.R328H NM_001338.4 NP_001329.1 P78310 CXAR_HUMAN coxsackie virus and adenovirus receptor 328 blood coagulation|cell adhesion|interspecies interaction between organisms|leukocyte migration|regulation of immune response adherens junction|basolateral plasma membrane|extracellular region|integral to plasma membrane|nucleus|tight junction receptor activity endometrium(2)|large_intestine(5)|lung(1)|ovary(1)|prostate(2) 11 Epithelial(23;0.000206)|all cancers(11;0.000302)|OV - Ovarian serous cystadenocarcinoma(11;0.0194)|Lung(58;0.0233)|COAD - Colon adenocarcinoma(22;0.0389)|Colorectal(24;0.0483)|LUSC - Lung squamous cell carcinoma(23;0.0782) GACTTTGAACGCACTCCTCAG 0.488000 10 43 0 0 1 0 0 MFSD2A 84879 broad.mit.edu 37 1 40432551 40432551 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:40432551G>A ENST00000372809.5 + 8 1056 c.913G>A c.(913-915)Ggc>Agc p.G305S MFSD2A_ENST00000420632.2_Missense_Mutation_p.G136S|MFSD2A_ENST00000372811.5_Missense_Mutation_p.G292S|MFSD2A_ENST00000480630.1_Intron NM_001136493.1 NP_001129965.1 Q8NA29 MFS2A_HUMAN major facilitator superfamily domain containing 2A 305 transmembrane transport endoplasmic reticulum membrane|integral to membrane p.G292C(1) breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 24 CATGAGCCACGGCCCATACAT 0.562000 20 129 0 0 1 0 0 ZNF408 79797 broad.mit.edu 37 11 46724532 46724532 + Splice_Site SNP A A T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:46724532A>T ENST00000311764.2 + 4 622 c.e4-1 NM_001184751.1|NM_024741.2 NP_001171680.1|NP_079017.1 Q9H9D4 ZN408_HUMAN zinc finger protein 408 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|identical protein binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 TTTGCTTTGCAGCTTGGTACA 0.577000 20 51 0 0 1 0 0 PALD1 27143 broad.mit.edu 37 10 72307198 72307198 + Missense_Mutation SNP G G C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr10:72307198G>C ENST00000263563.6 + 18 2526 c.2258G>C c.(2257-2259)cGc>cCc p.R753P NM_014431.2 NP_055246.2 phosphatase domain containing, paladin 1 TGCACCTACCGCCAGGTGAGC 0.647000 9 40 0 0 1 0 0 TUBGCP3 10426 broad.mit.edu 37 13 113153421 113153421 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr13:113153421C>A ENST00000261965.3 - 20 2572 c.2386G>T c.(2386-2388)Gct>Tct p.A796S TUBGCP3_ENST00000375669.3_Missense_Mutation_p.A796S NM_006322.4 NP_006313.1 Q96CW5 GCP3_HUMAN tubulin, gamma complex associated protein 3 796 G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization centriole|cytosol|polar microtubule gamma-tubulin binding|structural constituent of cytoskeleton central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1) 25 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) TCTTCCAGAGCAGCTCTGTAT 0.338000 4 75 0.00909568 0.00937143 1 1 0 VDR 7421 broad.mit.edu 37 12 48240119 48240119 + Splice_Site SNP T T A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr12:48240119T>A ENST00000229022.3 - 10 1304 c.1024_splice c.e10+1 p.P341_splice VDR_ENST00000549336.1_Splice_Site_p.P341_splice|VDR_ENST00000395324.2_Splice_Site_p.P341_splice|VDR_ENST00000550325.1_Splice_Site_p.P391_splice|VDR_ENST00000535672.1_Splice_Site_p.P309_splice NM_001017535.1 NP_001017535.1 P11473 VDR_HUMAN vitamin D (1,25- dihydroxyvitamin D3) receptor 341 Ligand-binding. decidualization|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of vitamin D 24-hydroxylase activity|regulation of calcidiol 1-monooxygenase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm retinoid X receptor binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|vitamin D3 receptor activity|zinc ion binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(3)|skin(2) 22 Acute lymphoblastic leukemia(13;0.109)|all_hematologic(14;0.214) GBM - Glioblastoma multiforme(48;0.17) Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Dihydrotachysterol(DB01070)|Ergocalciferol(DB00153)|Paricalcitol(DB00910) GCCCCATACCTGGGGAGACGA 0.597000 6 11 0 0 1 0 0 THEMIS2 9473 broad.mit.edu 37 1 28208808 28208808 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:28208808C>T ENST00000373921.3 + 4 977 c.973C>T c.(973-975)Cgg>Tgg p.R325W THEMIS2_ENST00000373925.1_Intron|THEMIS2_ENST00000328928.7_Intron|THEMIS2_ENST00000373927.3_Intron NM_001105556.1 NP_001099026.1 thymocyte selection associated family member 2 AGGCAAGCTGCGGCGGCGGCC 0.672000 5 26 0 0 1 0 0 SF3A2 8175 broad.mit.edu 37 19 2246936 2246936 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:2246936C>T ENST00000221494.4 + 7 879 c.461C>T c.(460-462)gCg>gTg p.A154V NM_007165.4 NP_009096.2 Q15428 SF3A2_HUMAN splicing factor 3a, subunit 2, 66kDa 154 nuclear mRNA 3'-splice site recognition catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex nucleic acid binding|zinc ion binding p.A154V(1) NS(1)|large_intestine(1)|lung(2) 4 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TTCATGTCTGCGTACGAGCAG 0.647000 28 45 0 0 1 0 0 MAP7D2 256714 broad.mit.edu 37 X 20033340 20033340 + Splice_Site SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chrX:20033340C>T ENST00000379651.3 - 11 1645 c.e11+1 MAP7D2_ENST00000452324.3_Splice_Site|MAP7D2_ENST00000443379.3_Splice_Site|MAP7D2_ENST00000379643.5_Splice_Site|MAP7D2_ENST00000543767.1_Splice_Site NM_152780.3 NP_689993.2 Q96T17 MA7D2_HUMAN MAP7 domain containing 2 NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 37 TCAGCCCTTACCTTCTTTCTC 0.478000 11 72 0 0 1 0 0 PCDH8 5100 broad.mit.edu 37 13 53422297 53422297 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr13:53422297C>T ENST00000377942.3 - 1 478 c.275G>A c.(274-276)cGc>cAc p.R92H PCDH8_ENST00000338862.4_Missense_Mutation_p.R92H NM_002590.3 NP_002581.2 O95206 PCDH8_HUMAN protocadherin 8 92 Cadherin 1. cell-cell signaling|homophilic cell adhesion cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane calcium ion binding breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1) 36 Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.19e-08) CAGCCGCTCGCGGTCCAGGCC 0.667000 21 83 0 0 1 0 0 FIBIN 387758 broad.mit.edu 37 11 27016637 27016637 + Silent SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:27016637G>A ENST00000318627.2 + 1 1010 c.564G>A c.(562-564)gaG>gaA p.E188E NM_203371.1 NP_976249.1 Q8TAL6 FIBIN_HUMAN fin bud initiation factor homolog (zebrafish) 188 extracellular region|Golgi apparatus breast(1)|endometrium(2)|lung(7)|upper_aerodigestive_tract(1) 11 ACAAATACGAGCTGCTGGCCC 0.517000 29 75 0 0 1 0 0 TMEM175 84286 broad.mit.edu 37 4 951686 951686 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr4:951686C>A ENST00000264771.4 + 11 1102 c.917C>A c.(916-918)aCc>aAc p.T306N TMEM175_ENST00000508204.1_Missense_Mutation_p.T224N|TMEM175_ENST00000515740.1_Missense_Mutation_p.T190N NM_032326.2 NP_115702.1 Q9BSA9 TM175_HUMAN transmembrane protein 175 306 integral to membrane NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3) 14 OV - Ovarian serous cystadenocarcinoma(23;0.0158) CTGAGTGCGACCGGGCCGCGC 0.627000 9 82 3.09899e-07 3.62599e-07 1 1 0 PCDH19 57526 broad.mit.edu 37 X 99551398 99551398 + Silent SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chrX:99551398G>T ENST00000373034.4 - 6 4999 c.3324C>A c.(3322-3324)ccC>ccA p.P1108P PCDH19_ENST00000420881.2_Silent_p.P1060P|PCDH19_ENST00000255531.7_Silent_p.P1061P NM_001184880.1 NP_001171809.1 Q8TAB3 PCD19_HUMAN protocadherin 19 1108 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 68 CAGCTTCAGAGGGACGAGTAG 0.562000 42 98 4.67007e-22 6.9973e-22 1 1 0 NFXL1 152518 broad.mit.edu 37 4 47892677 47892677 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr4:47892677C>T ENST00000507489.1 - 12 1672 c.1496G>A c.(1495-1497)cGg>cAg p.R499Q NFXL1_ENST00000381538.3_Missense_Mutation_p.R499Q|NFXL1_ENST00000329043.3_Missense_Mutation_p.R499Q NM_001278624.1 NP_001265553.1 Q6ZNB6 NFXL1_HUMAN nuclear transcription factor, X-box binding-like 1 499 integral to membrane|nucleus sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(4) 27 TCCTAAAGTCCGTCCACAGTT 0.363000 5 28 0 0 1 0 0 AIFM3 150209 broad.mit.edu 37 22 21330812 21330812 + Nonsense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr22:21330812G>T ENST00000399167.2 + 11 1255 c.1015G>T c.(1015-1017)Gga>Tga p.G339* AIFM3_ENST00000465606.1_3'UTR|AIFM3_ENST00000399163.2_Nonsense_Mutation_p.G339*|AIFM3_ENST00000333607.6_Nonsense_Mutation_p.G339*|AIFM3_ENST00000335375.5_Nonsense_Mutation_p.G327*|AIFM3_ENST00000405089.1_Nonsense_Mutation_p.G345*|AIFM3_ENST00000440238.2_Nonsense_Mutation_p.G339* NM_144704.2 NP_653305.1 apoptosis-inducing factor, mitochondrion-associated, 3 breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1) 21 all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0367) LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195) GGTCGTCGTGGGAGCCGGCTT 0.622000 14 56 1.05317e-09 1.30512e-09 1 1 0 CACNA2D1 781 broad.mit.edu 37 7 81746400 81746400 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr7:81746400C>A ENST00000356860.3 - 6 824 c.486G>T c.(484-486)caG>caT p.Q162H CACNA2D1_ENST00000423588.1_Missense_Mutation_p.Q162H|CACNA2D1_ENST00000356253.5_Missense_Mutation_p.Q162H NM_000722.2 NP_000713.2 P54289 CA2D1_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 1 162 voltage-gated calcium channel complex metal ion binding breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115) CTGCTGCGTGCTGATAAGATA 0.403000 15 95 6.94344e-10 8.6523e-10 1 1 0 CEACAM5 1048 broad.mit.edu 37 19 42213709 42213709 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:42213709C>A ENST00000221992.6 + 2 289 c.175C>A c.(175-177)Ccc>Acc p.P59T CEACAM5_ENST00000405816.1_Missense_Mutation_p.P59T|CEA_ENST00000598976.1_Missense_Mutation_p.P59T|CEACAM5_ENST00000398599.4_Missense_Mutation_p.P59T NM_004363.2 NP_004354.2 P06731 CEAM5_HUMAN carcinoembryonic antigen-related cell adhesion molecule 5 59 Ig-like 1. anchored to membrane|basolateral plasma membrane|integral to plasma membrane breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 34 OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142) CCACAATCTGCCCCAGCATCT 0.498000 37 108 3.93418e-24 5.99482e-24 1 1 0 FER1L6 654463 broad.mit.edu 37 8 125088523 125088523 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr8:125088523C>T ENST00000522917.1 + 32 4383 c.4177C>T c.(4177-4179)Cgg>Tgg p.R1393W FER1L6_ENST00000399018.1_Missense_Mutation_p.R1393W|FER1L6-AS2_ENST00000520031.1_RNA NM_001039112.2 NP_001034201.2 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 (C. elegans) 1393 C2 5. integral to membrane NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1) 118 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) AATCAAAGACCGGGATAAATA 0.433000 59 120 0 0 1 0 0 PRKCG 5582 broad.mit.edu 37 19 54406350 54406350 + Silent SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:54406350G>A ENST00000263431.3 + 15 1881 c.1599G>A c.(1597-1599)ggG>ggA p.G533G PRKCG_ENST00000540413.1_Silent_p.G533G|PRKCG_ENST00000542049.1_Silent_p.G420G NM_002739.3 NP_002730.1 P05129 KPCG_HUMAN protein kinase C, gamma 533 Protein kinase. activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission cytosol ATP binding|protein kinase C activity|zinc ion binding large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1) 10 all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218) GBM - Glioblastoma multiforme(134;0.0521) AGCCCTATGGGAAGTCTGTCG 0.547000 109 220 0 0 1 0 0 ORAI2 80228 broad.mit.edu 37 7 102079624 102079624 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr7:102079624C>T ENST00000356387.2 + 3 456 c.221C>T c.(220-222)gCc>gTc p.A74V ORAI2_ENST00000473939.1_Missense_Mutation_p.A74V|ORAI2_ENST00000478730.1_Missense_Mutation_p.A74V|ORAI2_ENST00000488996.1_Intron|ORAI2_ENST00000403646.3_Missense_Mutation_p.A74V NM_001126340.1|NM_001271818.1|NM_001271819.1|NM_032831.3 NP_001119812.1|NP_001258747.1|NP_001258748.1|NP_116220.1 Q96SN7 ORAI2_HUMAN ORAI calcium release-activated calcium modulator 2 74 integral to membrane protein binding autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 15 TCCGGCTTTGCCATGGTGAGT 0.632000 9 34 0 0 1 0 0 LMX1A 4009 broad.mit.edu 37 1 165324791 165324791 + Silent SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:165324791C>A ENST00000342310.3 - 2 388 c.6G>T c.(4-6)ctG>ctT p.L2L LMX1A_ENST00000294816.2_Silent_p.L2L|LMX1A_ENST00000367893.4_Silent_p.L2L NM_177398.3 NP_796372.1 Q8TE12 LMX1A_HUMAN LIM homeobox transcription factor 1, alpha 2 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4) 35 all_hematologic(923;0.248) TTAGGCCGTCCAGCATGTTCG 0.657000 13 30 0.000219431 0.000236741 1 1 0 GMEB2 26205 broad.mit.edu 37 20 62227055 62227055 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr20:62227055C>T ENST00000266068.1 - 5 1005 c.527G>A c.(526-528)cGc>cAc p.R176H GMEB2_ENST00000370069.1_Missense_Mutation_p.R125H|GMEB2_ENST00000370077.1_Missense_Mutation_p.R176H Q9UKD1 GMEB2_HUMAN glucocorticoid modulatory element binding protein 2 176 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|metal ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1) 18 all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13) Epithelial(9;4.79e-09)|all cancers(9;2.76e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.0114) CTTTGTGCTGCGGCAGGTGTT 0.622000 4 45 0 0 1 0 0 HSPA13 6782 broad.mit.edu 37 21 15748035 15748035 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr21:15748035C>A ENST00000285667.3 - 4 753 c.686G>T c.(685-687)gGa>gTa p.G229V HSPA13_ENST00000544452.1_Missense_Mutation_p.G21V NM_006948.4 NP_008879.3 P48723 HSP13_HUMAN heat shock protein 70kDa family, member 13 229 endoplasmic reticulum|microsome ATP binding NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 13 ATCTAGAGTTCCTCCGCCCAA 0.488000 39 44 2.66277e-13 3.54877e-13 1 1 0 CDH12 1010 broad.mit.edu 37 5 21752205 21752205 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr5:21752205C>A ENST00000382254.1 - 15 3112 c.2026G>T c.(2026-2028)Ggg>Tgg p.G676W CDH12_ENST00000522262.1_Missense_Mutation_p.G636W|CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000504376.2_Missense_Mutation_p.G676W|RP11-804N13.1_ENST00000522350.1_RNA NM_004061.3 NP_004052.2 P55289 CAD12_HUMAN cadherin 12, type 2 (N-cadherin 2) 676 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 120 CTCAGAGCCCCGATGTCGAAA 0.468000 HNSCC(59;0.17) 28 138 8.58068e-18 1.23375e-17 1 1 0 PRRG3 79057 broad.mit.edu 37 X 150868585 150868585 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chrX:150868585G>A ENST00000370353.3 + 3 515 c.125G>A c.(124-126)aGc>aAc p.S42N PRRG3_ENST00000370354.1_Missense_Mutation_p.S50N|PRRG3_ENST00000538575.1_Missense_Mutation_p.S42N Q9BZD7 TMG3_HUMAN proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane) 42 Gla. extracellular region|integral to membrane calcium ion binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(3)|prostate(2)|skin(3) 24 Acute lymphoblastic leukemia(192;6.56e-05) GAGATCTGCAGCTACGAGGAG 0.552000 24 56 0 0 1 0 0 OR10X1 128367 broad.mit.edu 37 1 158549524 158549524 + Missense_Mutation SNP C C G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:158549524C>G ENST00000368150.1 - 1 165 c.166G>C c.(166-168)Gca>Cca p.A56P NM_001004477.1 NP_001004477.1 Q8NGY0 O10X1_HUMAN olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene) 56 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1) 37 all_hematologic(112;0.0378) AGATTACCTGCAAGGGTGAGA 0.453000 17 78 0 0 1 0 0 NUTM2F 54754 broad.mit.edu 37 9 97082562 97082562 + Silent SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr9:97082562G>A ENST00000335456.7 - 6 1271 c.1251C>T c.(1249-1251)gaC>gaT p.D417D NUTM2F_ENST00000341207.4_Silent_p.D417D|NUTM2F_ENST00000253262.4_Silent_p.D432D NUT family member 2F AGGTTATCCCGTCCTCTTCCT 0.597000 20 101 0 0 1 0 0 CCKBR 887 broad.mit.edu 37 11 6292377 6292377 + Silent SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:6292377C>T ENST00000525462.1 + 4 1158 c.1155C>T c.(1153-1155)tcC>tcT p.S385S CCKBR_ENST00000532715.1_Silent_p.S232S|CCKBR_ENST00000334619.2_Silent_p.S316S|CCKBR_ENST00000532396.1_3'UTR P32239 GASR_HUMAN cholecystokinin B receptor 316 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception 1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 61 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139) Pentagastrin(DB00183) GGCCGGGATCCGGCTCCCGGC 0.627000 39 86 0 0 1 0 0 SLC26A4 5172 broad.mit.edu 37 7 107323740 107323740 + Nonsense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr7:107323740G>T ENST00000265715.3 + 7 1083 c.859G>T c.(859-861)Gaa>Taa p.E287* NM_000441.1 NP_000432.1 O43511 S26A4_HUMAN solute carrier family 26 (anion exchanger), member 4 287 regulation of pH|regulation of protein localization|sensory perception of sound apical plasma membrane|integral to membrane chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 46 GGCAGTTAAGGAATTAAATGA 0.358000 Pendred syndrome 40 56 4.14481e-20 6.10828e-20 1 1 0 NAV1 89796 broad.mit.edu 37 1 201681992 201681992 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:201681992C>T ENST00000367296.4 + 2 1225 c.805C>T c.(805-807)Cgg>Tgg p.R269W NAV1_ENST00000367302.1_Missense_Mutation_p.R282W|NAV1_ENST00000367300.3_Missense_Mutation_p.R269W|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367297.4_Missense_Mutation_p.R269W|NAV1_ENST00000295624.6_Missense_Mutation_p.R269W NM_020443.4 NP_065176.3 Q8NEY1 NAV1_HUMAN neuron navigator 1 269 DLR -> FLW (in Ref. 5; BAA86465). cell differentiation|nervous system development cytoplasm|microtubule nucleoside-triphosphatase activity|nucleotide binding breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2) 70 CCTGGATCTCCGGCAGAACCT 0.572000 19 223 0 0 1 0 0 NEDD4L 23327 broad.mit.edu 37 18 55998073 55998073 + Missense_Mutation SNP A A T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr18:55998073A>T ENST00000456986.1 + 11 1154 c.554A>T c.(553-555)gAg>gTg p.E185V NEDD4L_ENST00000356462.6_Missense_Mutation_p.E306V|NEDD4L_ENST00000431212.2_Missense_Mutation_p.E185V|NEDD4L_ENST00000357895.5_Missense_Mutation_p.E298V|NEDD4L_ENST00000256832.7_Missense_Mutation_p.E185V|NEDD4L_ENST00000256830.9_Missense_Mutation_p.E306V|NEDD4L_ENST00000435432.2_Missense_Mutation_p.E185V|NEDD4L_ENST00000400345.3_Missense_Mutation_p.E306V|NEDD4L_ENST00000382850.4_Missense_Mutation_p.E306V|NEDD4L_ENST00000586263.1_Missense_Mutation_p.E298V|NEDD4L_ENST00000456173.2_Missense_Mutation_p.E185V|NEDD4L_ENST00000589054.1_Intron NM_001144964.1 NP_001138436.1 Q96PU5 NED4L_HUMAN neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase 306 cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis cytoplasm protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4) 37 AGCCCTCAGGAGCTGTCAGAG 0.532000 33 36 0 0 1 0 0 LRRC30 339291 broad.mit.edu 37 18 7231613 7231613 + Silent SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr18:7231613C>T ENST00000383467.2 + 1 491 c.477C>T c.(475-477)ttC>ttT p.F159F NM_001105581.1 NP_001099051.1 A6NM36 LRC30_HUMAN leucine rich repeat containing 30 159 central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3) 31 CTGCATGCTTCGCCGACCTCT 0.562000 19 90 0 0 1 0 0 ING1 3621 broad.mit.edu 37 13 111368348 111368348 + Silent SNP G G C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr13:111368348G>C ENST00000375774.3 + 1 1020 c.558G>C c.(556-558)ccG>ccC p.P186P ING1_ENST00000464141.1_Intron|ING1_ENST00000333219.7_Intron|ING1_ENST00000338450.7_Intron|ING1_ENST00000375775.3_Intron NM_005537.4 NP_005528.3 Q9UK53 ING1_HUMAN inhibitor of growth family, member 1 186 cell cycle|negative regulation of cell growth|negative regulation of cell proliferation nucleus zinc ion binding endometrium(4)|large_intestine(6)|lung(1)|ovary(1) 12 all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148) BRCA - Breast invasive adenocarcinoma(86;0.188) GCGCGTGGCCGTGGAAACGTG 0.716000 28 45 0 0 1 0 0 FHOD3 80206 broad.mit.edu 37 18 33935539 33935539 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr18:33935539C>T ENST00000257209.4 + 2 325 c.203C>T c.(202-204)gCc>gTc p.A68V FHOD3_ENST00000590592.1_Missense_Mutation_p.A68V|FHOD3_ENST00000445677.1_Missense_Mutation_p.A68V|FHOD3_ENST00000359247.4_Missense_Mutation_p.A68V NM_025135.2 NP_079411.2 Q2V2M9 FHOD3_HUMAN formin homology 2 domain containing 3 68 GBD/FH3. actin cytoskeleton organization cytoplasm|cytoskeleton actin binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1) 90 all_epithelial(2;0.0181)|Colorectal(2;0.0195) CACAATGGCGCCTACCTGGAT 0.542000 15 25 0 0 1 0 0 NRDE2 55051 broad.mit.edu 37 14 90744788 90744788 + Silent SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr14:90744788G>A ENST00000354366.3 - 14 3619 c.3387C>T c.(3385-3387)gcC>gcT p.A1129A NRDE2_ENST00000357904.3_Silent_p.A898A NM_017970.3 NP_060440.2 NRDE-2, necessary for RNA interference, domain containing AATACTCCACGGCGTCCAGGT 0.642000 6 83 0 0 1 0 0 KCNS1 3787 broad.mit.edu 37 20 43723800 43723800 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr20:43723800G>A ENST00000306117.1 - 5 1688 c.1292C>T c.(1291-1293)aCg>aTg p.T431M KCNS1_ENST00000537075.1_Missense_Mutation_p.T431M NM_002251.3 NP_002242.2 Q96KK3 KCNS1_HUMAN potassium voltage-gated channel, delayed-rectifier, subfamily S, member 1 431 voltage-gated potassium channel complex delayed rectifier potassium channel activity|potassium channel regulator activity|protein binding endometrium(1)|lung(3)|ovary(1)|stomach(1) 6 Myeloproliferative disorder(115;0.0122) GCCAGCCACCGTCACTGGCAC 0.592000 11 56 0 0 1 0 0 CLEC18B 497190 broad.mit.edu 37 16 74444922 74444922 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr16:74444922C>A ENST00000339953.5 - 9 1116 c.995G>T c.(994-996)gGg>gTg p.G332V NM_001011880.2 NP_001011880.2 Q6UXF7 CL18B_HUMAN C-type lectin domain family 18, member B 332 C-type lectin. extracellular region sugar binding endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 27 GGCCAGCACCCCGCCTTTCCT 0.617000 6 72 3.86212e-05 4.23813e-05 1 1 0 KCNQ2 3785 broad.mit.edu 37 20 62038065 62038065 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr20:62038065G>T ENST00000354587.3 - 17 2751 c.2575C>A c.(2575-2577)Ccc>Acc p.P859T KCNQ2_ENST00000344462.3_Missense_Mutation_p.P847T|KCNQ2_ENST00000359125.2_Missense_Mutation_p.P851T|KCNQ2_ENST00000359689.1_Missense_Mutation_p.P851T|KCNQ2_ENST00000430658.1_Missense_Mutation_p.P820T|KCNQ2_ENST00000357249.2_Missense_Mutation_p.P833T|KCNQ2_ENST00000360480.3_Missense_Mutation_p.P823T|KCNQ2_ENST00000370224.1_Missense_Mutation_p.P859T|KCNQ2_ENST00000370226.1_Missense_Mutation_p.P821T O43526 KCNQ2_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 2 851 axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 65 all_cancers(38;1.24e-11) BRCA - Breast invasive adenocarcinoma(10;1.04e-05) Amitriptyline(DB00321) CGTGGCGGGGGCCCGCACGGG 0.721000 8 10 0.27861 0.279608 1 1 0 POLR3A 11128 broad.mit.edu 37 10 79785864 79785864 + Silent SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr10:79785864G>A ENST00000372371.3 - 2 305 c.168C>T c.(166-168)ctC>ctT p.L56L NM_007055.3 NP_008986.2 O14802 RPC1_HUMAN polymerase (RNA) III (DNA directed) polypeptide A, 155kDa 56 innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter DNA-directed RNA polymerase III complex DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095) Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646) TCCTATGGTCGAGCACCCCAT 0.547000 15 112 0 0 1 0 0 FRMD4A 55691 broad.mit.edu 37 10 13702398 13702398 + Missense_Mutation SNP T T C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr10:13702398T>C ENST00000357447.2 - 20 2184 c.1816A>G c.(1816-1818)Atc>Gtc p.I606V FRMD4A_ENST00000378503.1_Missense_Mutation_p.I606V|FRMD4A_ENST00000358621.4_Missense_Mutation_p.I591V NM_018027.3 NP_060497.3 Q9P2Q2 FRM4A_HUMAN FERM domain containing 4A 606 cytoplasm|cytoskeleton binding breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 41 TTGGGCTTGATGGGTGACTTG 0.557000 OREG0020030 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 30 68 0 0 1 0 0 ZFHX3 463 broad.mit.edu 37 16 72821648 72821648 + Silent SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr16:72821648G>A ENST00000268489.5 - 10 11199 c.10527C>T c.(10525-10527)ggC>ggT p.G3509G ZFHX3_ENST00000397992.5_Silent_p.G2595G|AC004943.1_ENST00000584072.1_RNA NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 3509 Poly-Gly. muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) tgccaccgccgccgccgccgG 0.726000 7 26 0 0 1 0 0 CCDC40 55036 broad.mit.edu 37 17 78022509 78022509 + Silent SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr17:78022509C>T ENST00000397545.4 + 5 831 c.804C>T c.(802-804)gaC>gaT p.D268D CCDC40_ENST00000374877.3_Silent_p.D268D|CCDC40_ENST00000269318.5_Silent_p.D268D|CCDC40_ENST00000374876.4_Silent_p.D268D NM_017950.3 NP_060420.2 Q4G0X9 CCD40_HUMAN coiled-coil domain containing 40 268 axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility cilium|cytoplasm NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 38 all_neural(118;0.167) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149) AGGGGAGTGACGAGGAAGCAG 0.597000 6 30 0 0 1 0 0 ESYT2 57488 broad.mit.edu 37 7 158580785 158580785 + Splice_Site SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr7:158580785C>A ENST00000251527.5 - 6 867 c.e6-1 NM_020728.2 NP_065779.1 A0FGR8 ESYT2_HUMAN extended synaptotagmin-like protein 2 integral to membrane|plasma membrane breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2) 32 TACCATGAATCTAAACTCAAA 0.413000 7 52 0.0293803 0.0299002 1 1 0 INSRR 3645 broad.mit.edu 37 1 156811944 156811944 + Silent SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:156811944G>A ENST00000368195.3 - 19 3753 c.3357C>T c.(3355-3357)cgC>cgT p.R1119R NTRK1_ENST00000392302.2_Silent_p.L27L NM_014215.2 NP_055030.1 P14616 INSRR_HUMAN insulin receptor-related receptor 1119 Protein kinase. protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 42 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) CCATGCAGTTGCGGGCTGCTA 0.557000 5 56 0 0 1 0 0 ADRA1D 146 broad.mit.edu 37 20 4202306 4202306 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr20:4202306C>T ENST00000379453.4 - 2 1699 c.1583G>A c.(1582-1584)cGc>cAc p.R528H NM_000678.3 NP_000669.1 P25100 ADA1D_HUMAN adrenoceptor alpha 1D 528 KPPSAFREWRLLGPFRRPTTQLRAKVSSLSHKIRAGGAQRA EAACAQRSEVEAVSLGVPHEVAEGATCQAYELADYSNLRET DI -> SHPAPSASGGCWGRSGDPRPSCAPKSPACRTRSPP GARSAQRQRAPSAQRWRLCP (in Ref. 1). cell proliferation|cell-cell signaling|DNA metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|multicellular organismal development|positive regulation of cell proliferation integral to plasma membrane alpha1-adrenergic receptor activity p.R528H(1) endometrium(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 14 Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Methotrimeprazine(DB01403)|Norepinephrine(DB00368)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162) TGCCTCTGCGCGCTGCGCGCC 0.716000 13 42 0 0 1 0 0 IGKV1-5 28299 broad.mit.edu 37 2 89246966 89246966 + RNA SNP G G C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr2:89246966G>C ENST00000496168.1 - 0 384 TATAGATCAGGAGCTTAGGGG 0.527000 53 102 0 0 1 0 0 SERPINH1 871 broad.mit.edu 37 11 75277634 75277634 + Silent SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:75277634C>T ENST00000524558.1 + 2 1675 c.240C>T c.(238-240)ctC>ctT p.L80L SERPINH1_ENST00000358171.3_Silent_p.L80L|SERPINH1_ENST00000533603.1_Silent_p.L80L|SERPINH1_ENST00000530284.1_Silent_p.L80L P50454 SERPH_HUMAN serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1) 80 regulation of proteolysis|response to unfolded protein endoplasmic reticulum lumen|ER-Golgi intermediate compartment collagen binding|serine-type endopeptidase inhibitor activity p.L80L(1) endometrium(4)|large_intestine(3)|liver(1)|lung(4)|ovary(2)|stomach(1) 15 Ovarian(111;0.11) CGCTAGGGCTCGTGTCGCTGG 0.706000 5 36 0 0 1 0 0 SLC39A1 27173 broad.mit.edu 37 1 153934720 153934720 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:153934720C>A ENST00000368623.3 - 2 1053 c.294G>T c.(292-294)gaG>gaT p.E98D SLC39A1_ENST00000368621.1_Missense_Mutation_p.E98D|SLC39A1_ENST00000356205.4_Missense_Mutation_p.E98D|SLC39A1_ENST00000537590.1_Intron|SLC39A1_ENST00000310483.6_Missense_Mutation_p.E98D Q9NY26 S39A1_HUMAN solute carrier family 39 (zinc transporter), member 1 98 endoplasmic reticulum membrane|integral to membrane|membrane fraction|plasma membrane zinc ion transmembrane transporter activity kidney(2)|large_intestine(2)|lung(7)|urinary_tract(1) 12 all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) Colorectal(1306;0.019) CTGCCAGGGCCTCATCTATGG 0.592000 83 280 3.83088e-25 5.8573e-25 1 1 0 CCDC58 131076 broad.mit.edu 37 3 122102053 122102053 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr3:122102053C>A ENST00000291458.5 - 1 25 c.19G>T c.(19-21)Ggt>Tgt p.G7C CCDC58_ENST00000497726.1_Missense_Mutation_p.G7C|CCDC58_ENST00000479899.1_5'UTR NM_001017928.2 NP_001017928.1 Q4VC31 CCD58_HUMAN coiled-coil domain containing 58 7 large_intestine(1)|lung(1) 2 GBM - Glioblastoma multiforme(114;0.148) CAGTTCACACCGCCACTGGGC 0.577000 73 52 4.81439e-37 7.69137e-37 1 1 0 CHST2 9435 broad.mit.edu 37 3 142840271 142840271 + Missense_Mutation SNP T T C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr3:142840271T>C ENST00000309575.3 + 2 1997 c.613T>C c.(613-615)Tat>Cat p.Y205H NM_004267.4 NP_004258.2 Q9Y4C5 CHST2_HUMAN carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2 205 inflammatory response|multicellular organismal development|N-acetylglucosamine metabolic process|sulfur compound metabolic process integral to membrane|intrinsic to Golgi membrane|trans-Golgi network N-acetylglucosamine 6-O-sulfotransferase activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2) 22 GCAAAAACTGTATCCGGGGGA 0.597000 22 137 0 0 1 0 0 MTMR11 10903 broad.mit.edu 37 1 149905761 149905761 + Missense_Mutation SNP T T A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:149905761T>A ENST00000439741.2 - 8 1008 c.758A>T c.(757-759)cAg>cTg p.Q253L MTMR11_ENST00000406732.3_Missense_Mutation_p.Q225L|MTMR11_ENST00000492824.1_5'UTR|MTMR11_ENST00000361405.6_Intron|MTMR11_ENST00000369140.3_Missense_Mutation_p.Q181L NM_001145862.1 NP_001139334.1 A4FU01 MTMRB_HUMAN myotubularin related protein 11 253 Myotubularin phosphatase. phosphatase activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4) 34 Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247) TCCACGGCCCTGATGAAAGTG 0.537000 50 165 0 0 1 0 0 PAQR3 152559 broad.mit.edu 37 4 79847761 79847761 + Missense_Mutation SNP T T C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr4:79847761T>C ENST00000512733.1 - 4 829 c.616A>G c.(616-618)Atc>Gtc p.I206V PAQR3_ENST00000515541.1_5'UTR|PAQR3_ENST00000380645.4_Missense_Mutation_p.I206V|PAQR3_ENST00000295462.3_3'UTR NM_001040202.1 NP_001035292.1 Q6TCH7 PAQR3_HUMAN progestin and adipoQ receptor family member III 206 Golgi membrane|integral to membrane receptor activity breast(2)|central_nervous_system(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1) 8 GAACAAAAGATGATAGAACGG 0.463000 54 120 0 0 1 0 0 CLCN7 1186 broad.mit.edu 37 16 1498742 1498742 + Missense_Mutation SNP A A C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr16:1498742A>C ENST00000382745.4 - 20 2428 c.1823T>G c.(1822-1824)cTg>cGg p.L608R CLCN7_ENST00000448525.1_Missense_Mutation_p.L584R|CLCN7_ENST00000262318.8_Missense_Mutation_p.L584R NM_001287.5 NP_001278.1 P51798 CLCN7_HUMAN chloride channel, voltage-sensitive 7 608 integral to membrane|lysosomal membrane antiporter activity|ATP binding|voltage-gated chloride channel activity breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2) 24 Hepatocellular(780;0.0893) CACACTCTGCAGCTGAATGTG 0.672000 63 74 0 0 1 0 0 PSG8 440533 broad.mit.edu 37 19 43259146 43259146 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:43259146C>A ENST00000404209.4 - 4 1078 c.982G>T c.(982-984)Gtc>Ttc p.V328F PSG8_ENST00000401467.2_Missense_Mutation_p.V235F|PSG8_ENST00000600709.1_Intron|PSG8_ENST00000306511.4_Missense_Mutation_p.V328F|PSG8_ENST00000406636.3_Missense_Mutation_p.V206F NM_001130167.1 NP_001123639.1 Q9UQ74 PSG8_HUMAN pregnancy specific beta-1-glycoprotein 8 328 extracellular region breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 40 Prostate(69;0.00899) TCACAGAGGACATTCAGGGTG 0.488000 48 143 1.78197e-24 2.71901e-24 1 1 0 IGSF3 3321 broad.mit.edu 37 1 117146567 117146567 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:117146567G>A ENST00000369486.3 - 6 2068 c.1303C>T c.(1303-1305)Cgc>Tgc p.R435C IGSF3_ENST00000369483.1_Missense_Mutation_p.R455C|IGSF3_ENST00000318837.6_Missense_Mutation_p.R455C NM_001007237.1 NP_001007238.1 O75054 IGSF3_HUMAN immunoglobulin superfamily, member 3 435 Ig-like C2-type 4. integral to membrane NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 62 Lung SC(450;0.225) all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05) Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166) CCTGCCGTGCGGACACTGCAG 0.617000 34 46 0 0 1 0 0 CSF1R 1436 broad.mit.edu 37 5 149449796 149449796 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr5:149449796C>A ENST00000286301.3 - 9 1559 c.1268G>T c.(1267-1269)gGg>gTg p.G423V NM_005211.3 NP_005202.2 P07333 CSF1R_HUMAN colony stimulating factor 1 receptor 423 Ig-like C2-type 5. cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane|receptor complex ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 93 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) Imatinib(DB00619)|Sunitinib(DB01268) CTGGGGGTACCCAGAGGCAGC 0.602000 10 28 2.17888e-05 2.41344e-05 1 1 0 PGAP1 80055 broad.mit.edu 37 2 197784851 197784851 + Silent SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr2:197784851C>A ENST00000354764.3 - 2 285 c.171G>T c.(169-171)ctG>ctT p.L57L PGAP1_ENST00000409188.1_Silent_p.L15L|PGAP1_ENST00000409475.1_Silent_p.L57L|PGAP1_ENST00000485830.1_5'UTR NM_024989.3 NP_079265.2 Q75T13 PGAP1_HUMAN post-GPI attachment to proteins 1 57 attachment of GPI anchor to protein|C-terminal protein lipidation|intracellular protein transport|myo-inositol transport integral to membrane|intrinsic to endoplasmic reticulum membrane nuclease activity|phosphoric ester hydrolase activity breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1) 40 AGCGTTTTGCCAGTTTCTTTG 0.348000 12 40 7.93312e-07 9.17689e-07 1 1 0 KLHL25 64410 broad.mit.edu 37 15 86312336 86312336 + Missense_Mutation SNP C C T rs139035411 TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr15:86312336C>T ENST00000337975.5 - 2 980 c.706G>A c.(706-708)Gtg>Atg p.V236M KLHL25_ENST00000536947.1_Missense_Mutation_p.V236M|KLHL25_ENST00000559131.1_Intron NM_022480.3 NP_071925.2 Q9H0H3 ENC2_HUMAN kelch-like family member 25 236 cytoplasm breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 25 GCCAGACGCACGCTGCGGAGG 0.662000 7 25 0 0 1 0 0 NRK 203447 broad.mit.edu 37 X 105153052 105153052 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chrX:105153052G>T ENST00000428173.2 + 13 1725 c.1422G>T c.(1420-1422)agG>agT p.R474S NRK_ENST00000243300.9_Missense_Mutation_p.R473S Q7Z2Y5 NRK_HUMAN Nik related kinase 473 Gln-rich. ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2) 76 GACTACGGAGGGCAGCCAGGG 0.562000 HNSCC(51;0.14) 7 44 2.0095e-06 2.29496e-06 1 1 0 BPI 671 broad.mit.edu 37 20 36936038 36936038 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr20:36936038G>T ENST00000262865.4 + 2 301 c.212G>T c.(211-213)aGc>aTc p.S71I CTD-2308N23.2_ENST00000437016.1_RNA NM_001725.2 NP_001716.2 P17213 BPI_HUMAN bactericidal/permeability-increasing protein 71 defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production extracellular region|integral to plasma membrane lipid binding|lipopolysaccharide binding kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1) 30 Myeloproliferative disorder(115;0.00878) TACTCAGACAGCTTTAAGATC 0.527000 23 96 5.45024e-15 7.53228e-15 1 1 0 PAPPA2 60676 broad.mit.edu 37 1 176668537 176668537 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:176668537G>T ENST00000367662.3 + 8 4212 c.3048G>T c.(3046-3048)aaG>aaT p.K1016N NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 1016 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 TGGATGGGAAGGTGTCGGGGG 0.532000 44 203 6.33695e-27 9.76221e-27 1 1 0 PYGM 5837 broad.mit.edu 37 11 64514188 64514188 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:64514188C>A ENST00000164139.3 - 20 2870 c.2472G>T c.(2470-2472)gaG>gaT p.E824D PYGM_ENST00000377432.3_Missense_Mutation_p.E736D NM_005609.2 NP_005600.1 P11217 PYGM_HUMAN phosphorylase, glycogen, muscle 824 glucose metabolic process|glycogen catabolic process cytosol glycogen phosphorylase activity|protein binding cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 Pyridoxal Phosphate(DB00114) CACCCCAGATCTCCCGGGCAT 0.622000 29 93 2.12542e-12 2.78953e-12 1 1 0 ADAMTS16 170690 broad.mit.edu 37 5 5190086 5190086 + Silent SNP A A G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr5:5190086A>G ENST00000274181.7 + 7 1188 c.1050A>G c.(1048-1050)ccA>ccG p.P350P ADAMTS16_ENST00000511368.1_Silent_p.P350P NM_139056.2 NP_620687.2 Q8TE57 ATS16_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 16 350 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 107 TTGCACAGCCAGGACTGGTGA 0.473000 36 167 0 0 1 0 0 TRPM7 54822 broad.mit.edu 37 15 50904913 50904913 + Nonsense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr15:50904913C>T ENST00000313478.7 - 16 2165 c.1884G>A c.(1882-1884)tgG>tgA p.W628* TRPM7_ENST00000560955.1_Nonsense_Mutation_p.W628* NM_017672.4 NP_060142.3 Q96QT4 TRPM7_HUMAN transient receptor potential cation channel, subfamily M, member 7 628 cell death integral to membrane ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3) 52 all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045) TAAGGCAAGCCCAAATTAAAA 0.388000 29 62 0 0 1 0 0 AGBL1 123624 broad.mit.edu 37 15 86814905 86814905 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr15:86814905G>T ENST00000441037.2 + 14 2000 c.1905G>T c.(1903-1905)tgG>tgT p.W635C AGBL1_ENST00000421325.2_Missense_Mutation_p.W635C|AGBL1_ENST00000389298.3_Missense_Mutation_p.W366C NM_152336.2 NP_689549.2 Q96MI9 CBPC4_HUMAN ATP/GTP binding protein-like 1 635 C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis cytosol metallocarboxypeptidase activity|tubulin binding|zinc ion binding NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 62 AACCCACCTGGATAAGGACAG 0.418000 25 65 3.73808e-20 5.5234e-20 1 1 0 ELK1 2002 broad.mit.edu 37 X 47497454 47497454 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chrX:47497454C>T ENST00000247161.3 - 4 881 c.782G>A c.(781-783)gGg>gAg p.G261E ELK1_ENST00000343894.4_Intron|ELK1_ENST00000376983.3_Missense_Mutation_p.G261E|ELK1_ENST00000592066.1_Missense_Mutation_p.G207E NM_005229.4 NP_005220.2 P19419 ELK1_HUMAN ELK1, member of ETS oncogene family 261 innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2) 10 CCCTCTCTCCCCCGCAACTTC 0.602000 5 28 0 0 1 0 0 ISLR 3671 broad.mit.edu 37 15 74468372 74468372 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr15:74468372C>A ENST00000249842.3 + 2 1530 c.1173C>A c.(1171-1173)agC>agA p.S391R ISLR_ENST00000395118.1_Missense_Mutation_p.S391R|RP11-665J16.1_ENST00000561647.1_RNA NM_005545.3 NP_005536.1 O14498 ISLR_HUMAN immunoglobulin superfamily containing leucine-rich repeat 391 cell adhesion extracellular region central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1) 20 TCTACCTCAGCCGTGCTGGGA 0.617000 14 33 0.132662 0.134036 1 1 0 NCOA2 10499 broad.mit.edu 37 8 71041055 71041055 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr8:71041055C>T ENST00000452400.2 - 17 3666 c.3485G>A c.(3484-3486)cGg>cAg p.R1162Q NCOA2_ENST00000267974.4_Missense_Mutation_p.R250Q NM_006540.2 NP_006531.1 Q15596 NCOA2_HUMAN nuclear receptor coactivator 2 1162 cellular lipid metabolic process|transcription, DNA-dependent nucleoplasm histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity PAX3/NCOA2(4)|HEY1/NCOA2(10) NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4) 60 Breast(64;0.201) Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606) ATAACTAGGCCGCTGTCCCAT 0.547000 T """RUNXBP2, HEY1""" """AML, Chondrosarcoma""" 3 38 0 0 1 0 0 DPF2 5977 broad.mit.edu 37 11 65108447 65108447 + Silent SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:65108447C>T ENST00000528416.1 + 3 337 c.204C>T c.(202-204)tcC>tcT p.S68S DPF2_ENST00000415073.2_Silent_p.S68S|DPF2_ENST00000252268.4_Silent_p.S68S|DPF2_ENST00000532264.1_3'UTR NM_006268.4 NP_006259.1 Q92785 REQU_HUMAN D4, zinc and double PHD fingers family 2 68 apoptosis|induction of apoptosis by extracellular signals|regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|nucleus nucleic acid binding|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|prostate(1) 23 GATTGGCCTCCGGACAGCTGT 0.522000 6 34 0 0 1 0 0 MAGI3 260425 broad.mit.edu 37 1 114215273 114215273 + Silent SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:114215273C>A ENST00000369615.1 + 18 3017 c.2955C>A c.(2953-2955)tcC>tcA p.S985S MAGI3_ENST00000307546.9_Silent_p.S985S|MAGI3_ENST00000369611.4_Silent_p.S985S|MAGI3_ENST00000369617.4_Silent_p.S1010S NM_152900.2 NP_690864.2 Q5TCQ9 MAGI3_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 3 1010 apoptosis|interspecies interaction between organisms|intracellular signal transduction nucleus|tight junction ATP binding|guanylate kinase activity|protein binding NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 41 Lung SC(450;0.184) all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) AAGATGTCTCCACTTCTTACA 0.433000 52 141 1.38658e-30 2.17489e-30 1 1 0 OR14I1 401994 broad.mit.edu 37 1 248845498 248845498 + Silent SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:248845498C>T ENST00000342623.3 - 1 131 c.108G>A c.(106-108)gtG>gtA p.V36V NM_001004734.1 NP_001004734.1 A6ND48 O14I1_HUMAN olfactory receptor, family 14, subfamily I, member 1 36 V -> A (in dbSNP:rs4462184). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 35 TCCCCACCAGCACTGCCAGAT 0.498000 4 78 0 0 1 0 0 KIFC1 3833 broad.mit.edu 37 6 33374260 33374260 + Silent SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr6:33374260C>T ENST00000428849.2 + 8 2274 c.1824C>T c.(1822-1824)aaC>aaT p.N608N NM_002263.3 NP_002254.2 Q9BW19 KIFC1_HUMAN kinesin family member C1 608 blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle ATP binding|microtubule motor activity endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1) 13 CCCTGAGCAACAAGGTGGGAA 0.607000 6 50 0 0 1 0 0 PCDH19 57526 broad.mit.edu 37 X 99551399 99551399 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chrX:99551399G>T ENST00000373034.4 - 6 4998 c.3323C>A c.(3322-3324)cCc>cAc p.P1108H PCDH19_ENST00000420881.2_Missense_Mutation_p.P1060H|PCDH19_ENST00000255531.7_Missense_Mutation_p.P1061H NM_001184880.1 NP_001171809.1 Q8TAB3 PCD19_HUMAN protocadherin 19 1108 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 68 AGCTTCAGAGGGACGAGTAGG 0.562000 43 97 7.05121e-23 1.06361e-22 1 1 0 CD244 51744 broad.mit.edu 37 1 160808240 160808240 + Splice_Site SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:160808240C>T ENST00000368034.4 - 5 1012 c.e5+1 CD244_ENST00000368032.2_Splice_Site|CD244_ENST00000481677.1_Splice_Site|CD244_ENST00000368033.3_Splice_Site|CD244_ENST00000322302.7_Splice_Site NM_001166663.1|NM_001166664.1|NM_016382.3 NP_001160135.1|NP_001160136.1|NP_057466.1 Q9BZW8 CD244_HUMAN CD244 molecule, natural killer cell receptor 2B4 blood coagulation|leukocyte migration integral to membrane|plasma membrane protein binding|receptor activity central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1) 18 all_cancers(52;2.72e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00737) GGATGACATACGTGATTTCTC 0.463000 6 167 0 0 1 0 0 ATR 545 broad.mit.edu 37 3 142238585 142238585 + Silent SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr3:142238585G>A ENST00000350721.4 - 24 4429 c.4308C>T c.(4306-4308)aaC>aaT p.N1436N ATR_ENST00000383101.3_Silent_p.N1372N NM_001184.3 NP_001175.2 Q13535 ATR_HUMAN ataxia telangiectasia and Rad3 related 1436 cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence PML body ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4) 122 GACCTGGGCCGTTGGTCTCCA 0.378000 Other conserved DNA damage response genes 18 99 0 0 1 0 0 OR10H5 284433 broad.mit.edu 37 19 15904957 15904957 + Silent SNP G G C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:15904957G>C ENST00000308940.8 + 1 197 c.99G>C c.(97-99)ctG>ctC p.L33L NM_001004466.1 NP_001004466.1 Q8NGA6 O10H5_HUMAN olfactory receptor, family 10, subfamily H, member 5 33 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(9)|ovary(1) 20 TGTTCCTGCTGATGTACCTGT 0.582000 64 143 0 0 1 0 0 WT1 7490 broad.mit.edu 37 11 32456445 32456445 + Silent SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:32456445C>A ENST00000332351.3 - 1 731 c.447G>T c.(445-447)gcG>gcT p.A149A WT1_ENST00000448076.3_Silent_p.A149A NM_024424.3|NM_024426.4 NP_077742.2|NP_077744.3 P19544 WT1_HUMAN Wilms tumor 1 81 adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric epithelium development|metanephric S-shaped body morphogenesis|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|RNA splicing|sex determination|vasculogenesis|visceral serous pericardium development cytoplasm|nuclear speck|nucleoplasm C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding p.W78fs*1(1) EWSR1/WT1(234) NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1) 533 Breast(20;0.247) OV - Ovarian serous cystadenocarcinoma(30;0.128) CGTGCGGCTCCGCGCCGCCCC 0.726000 """D, Mis, N, F, S""" EWSR1 """Wilms, desmoplastic small round cell tumor""" Wilms Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome 9 24 0.000673444 0.000712181 1 1 0 CLNK 116449 broad.mit.edu 37 4 10515189 10515189 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr4:10515189G>T ENST00000226951.6 - 16 1044 c.805C>A c.(805-807)Cag>Aag p.Q269K CLNK_ENST00000515667.1_Missense_Mutation_p.Q7K NM_052964.2 NP_443196.2 Q7Z7G1 CLNK_HUMAN cytokine-dependent hematopoietic cell linker 269 immune response|intracellular signal transduction intracellular SH3/SH2 adaptor activity NS(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1) 17 TGGCATCTCTGAGGAGAACAG 0.488000 3 11 2.56e-06 2.90591e-06 1 1 0 USP35 57558 broad.mit.edu 37 11 77909055 77909055 + Silent SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:77909055C>T ENST00000529308.1 + 3 1008 c.747C>T c.(745-747)gtC>gtT p.V249V USP35_ENST00000441408.2_5'UTR|USP35_ENST00000530535.1_Intron|USP35_ENST00000530267.1_Intron NM_020798.2 NP_065849.1 Q9P2H5 UBP35_HUMAN ubiquitin specific peptidase 35 249 ubiquitin-dependent protein catabolic process binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1) 23 all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152) OV - Ovarian serous cystadenocarcinoma(8;1.04e-25) ATGGTGTTGTCCGGAACCTCA 0.607000 31 88 0 0 1 0 0 RBMX 27316 broad.mit.edu 37 X 135957249 135957249 + Missense_Mutation SNP A A C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chrX:135957249A>C ENST00000562646.1 - 8 1015 c.861T>G c.(859-861)agT>agG p.S287R RBMX_ENST00000570135.1_Missense_Mutation_p.S152R|RBMX_ENST00000431446.3_Missense_Mutation_p.V179G|RBMX_ENST00000320676.7_Missense_Mutation_p.S287R|RBMX_ENST00000565438.1_Missense_Mutation_p.S159R P38159 HNRPG_HUMAN RNA binding motif protein, X-linked 287 catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|protein binding|RNA binding NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1) 33 Acute lymphoblastic leukemia(192;0.000127) TCTTACCATAACTCTCATATG 0.398000 9 204 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11039115 11039115 + RNA SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr21:11039115C>A ENST00000470054.1 - 0 1088 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) CTTTCTATAACCAACTGTTCC 0.408000 12 246 5.50884e-06 6.18744e-06 1 1 0 LCE1A 353131 broad.mit.edu 37 1 152800158 152800158 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:152800158C>A ENST00000335123.2 + 1 210 c.210C>A c.(208-210)agC>agA p.S70R NM_178348.2 NP_848125.1 Q5T7P2 LCE1A_HUMAN late cornified envelope 1A 70 Cys-rich. keratinization endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1) 8 Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) GCTGCCTGAGCCACCACAGGC 0.697000 25 58 1.1804e-14 1.62431e-14 1 1 0 ASH1L 55870 broad.mit.edu 37 1 155450126 155450126 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:155450126C>A ENST00000368346.3 - 3 3174 c.2535G>T c.(2533-2535)agG>agT p.R845S ASH1L_ENST00000392403.3_Missense_Mutation_p.R845S Q9NR48 ASH1L_HUMAN ash1 (absent, small, or homeotic)-like (Drosophila) 845 cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|Golgi apparatus|nucleus|tight junction DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4) 124 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021) TTTTTAAAGTCCTTTTAGGTG 0.398000 47 221 6.08268e-21 9.0594e-21 1 1 0 RBM14 10432 broad.mit.edu 37 11 66392646 66392646 + Silent SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:66392646G>T ENST00000310137.4 + 2 1438 c.1299G>T c.(1297-1299)gtG>gtT p.V433V RBM14_ENST00000409738.4_Intron|RBM4_ENST00000503028.2_Intron|RBM14_ENST00000393979.3_Intron|RBM14-RBM4_ENST00000412278.2_Intron|RBM4_ENST00000514361.3_Intron|RBM14-RBM4_ENST00000500635.2_Intron NM_006328.3 NP_006319.1 Q96PK6 RBM14_HUMAN RNA binding motif protein 14 433 Ala-rich. DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|histone deacetylation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus mediator complex|ribonucleoprotein complex|transcription factor complex ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|protein binding, bridging|RNA binding|RNA polymerase II transcription cofactor activity RBM14/PACS1(2) breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 17 CTGCCTATGTGGCACAGCCAG 0.612000 18 273 1.99824e-07 2.35278e-07 1 1 0 DEFB112 245915 broad.mit.edu 37 6 50011434 50011434 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr6:50011434C>T ENST00000322246.4 - 2 195 c.196G>A c.(196-198)Gat>Aat p.D66N NM_001037498.1 NP_001032587.1 Q30KQ8 DB112_HUMAN defensin, beta 112 66 defense response to bacterium extracellular region central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 19 Lung NSC(77;0.042) TCACTATCATCACATTGATTT 0.433000 23 45 0 0 1 0 0 CCDC86 79080 broad.mit.edu 37 11 60610350 60610350 + Silent SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:60610350G>A ENST00000227520.5 + 1 807 c.753G>A c.(751-753)aaG>aaA p.K251K RP11-804A23.2_ENST00000539897.1_RNA|RP11-804A23.4_ENST00000538705.1_RNA NM_024098.3 NP_077003.1 Q9H6F5 CCD86_HUMAN coiled-coil domain containing 86 251 interspecies interaction between organisms nucleus endometrium(1)|large_intestine(2)|liver(2)|lung(2)|urinary_tract(3) 10 ACCGCTCCAAGAAAAGGTGAA 0.587000 7 27 0 0 1 0 0 SLC27A5 10998 broad.mit.edu 37 19 59010872 59010872 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:59010872C>T ENST00000263093.2 - 7 1763 c.1654G>A c.(1654-1656)Ggg>Agg p.G552R SLC27A5_ENST00000601355.1_Missense_Mutation_p.G468R NM_012254.2 NP_036386.1 Q9Y2P5 S27A5_HUMAN solute carrier family 27 (fatty acid transporter), member 5 552 bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process endoplasmic reticulum membrane|integral to membrane ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 19 all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181) AAGGTGTCCCCGAGGCGGTCG 0.667000 17 39 0 0 1 0 0 COL4A6 1288 broad.mit.edu 37 X 107430468 107430468 + Silent SNP A A T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chrX:107430468A>T ENST00000394872.2 - 23 2043 c.1812T>A c.(1810-1812)ccT>ccA p.P604P COL4A6_ENST00000538570.1_Silent_p.P603P|COL4A6_ENST00000545689.1_Silent_p.P603P|COL4A6_ENST00000334504.7_Silent_p.P603P|COL4A6_ENST00000372216.4_Silent_p.P604P Q14031 CO4A6_HUMAN collagen, type IV, alpha 6 604 Triple-helical region. cell adhesion|extracellular matrix organization collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2) 92 CAGGAAGTCCAGGTAACCCCT 0.502000 Alport syndrome with Diffuse Leiomyomatosis 27 118 0 0 1 0 0 ZC3H14 79882 broad.mit.edu 37 14 89061356 89061356 + Nonsense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr14:89061356G>T ENST00000555900.1 + 1 598 c.286G>T c.(286-288)Gaa>Taa p.E96* ZC3H14_ENST00000406216.3_Nonsense_Mutation_p.E96*|ZC3H14_ENST00000359301.3_Intron|ZC3H14_ENST00000318308.6_Nonsense_Mutation_p.E96*|ZC3H14_ENST00000557607.1_Intron|ZC3H14_ENST00000251038.5_Intron|ZC3H14_ENST00000302216.8_Intron|ZC3H14_ENST00000556945.1_Intron|ZC3H14_ENST00000393514.5_Intron|ZC3H14_ENST00000555755.1_Intron|ZC3H14_ENST00000336693.4_Intron Q6PJT7 ZC3HE_HUMAN zinc finger CCCH-type containing 14 308 cytoplasm|nuclear speck protein binding|RNA binding|zinc ion binding cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2) 21 AACAACATATGAATGCAACAG 0.328000 15 32 1.52009e-12 2.00209e-12 1 1 0 NAV3 89795 broad.mit.edu 37 12 78400695 78400695 + Missense_Mutation SNP A A T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr12:78400695A>T ENST00000397909.2 + 8 1550 c.1377A>T c.(1375-1377)aaA>aaT p.K459N NAV3_ENST00000228327.6_Missense_Mutation_p.K459N|NAV3_ENST00000266692.7_Missense_Mutation_p.K459N|NAV3_ENST00000536525.2_Missense_Mutation_p.K459N Q8IVL0 NAV3_HUMAN neuron navigator 3 459 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1) 236 TCAGCAATAAAAAGTCTTTGC 0.408000 HNSCC(70;0.22) 9 90 0 0 1 0 0 ARRDC4 91947 broad.mit.edu 37 15 98509139 98509139 + Missense_Mutation SNP C C G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr15:98509139C>G ENST00000268042.6 + 3 553 c.389C>G c.(388-390)tCg>tGg p.S130W ARRDC4_ENST00000538249.1_Missense_Mutation_p.S43W NM_183376.2 NP_899232.2 Q8NCT1 ARRD4_HUMAN arrestin domain containing 4 130 signal transduction breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|skin(3) 16 Melanoma(26;0.00539)|Lung NSC(78;0.0125)|all_lung(78;0.0222) OV - Ovarian serous cystadenocarcinoma(32;0.0417) TTGGTCACCTCGTTTACTGGG 0.408000 24 69 0 0 1 0 0 DISP1 84976 broad.mit.edu 37 1 223156421 223156421 + Splice_Site SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:223156421G>T ENST00000284476.6 + 3 673 c.e3-1 DISP1_ENST00000495684.1_Splice_Site NM_032890.3 NP_116279.2 Q96F81 DISP1_HUMAN dispatched homolog 1 (Drosophila) diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway basolateral plasma membrane|integral to membrane hedgehog receptor activity|peptide transporter activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5) 69 GBM - Glioblastoma multiforme(131;0.102) TTTTTTTTCAGACCATCCAGA 0.303000 4 42 0.184627 0.185704 1 1 0 GDPD2 54857 broad.mit.edu 37 X 69649520 69649520 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chrX:69649520C>A ENST00000453994.2 + 11 1475 c.1114C>A c.(1114-1116)Cag>Aag p.Q372K GDPD2_ENST00000374382.3_Missense_Mutation_p.Q372K|GDPD2_ENST00000538649.1_Missense_Mutation_p.Q293K|GDPD2_ENST00000536730.1_Missense_Mutation_p.Q293K|GDPD2_ENST00000472623.1_3'UTR NM_001171192.1 NP_001164663.1 Q9HCC8 GDPD2_HUMAN glycerophosphodiester phosphodiesterase domain containing 2 372 GDPD. glycerol metabolic process|lipid metabolic process cytoplasm|cytoskeleton|integral to membrane|plasma membrane glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol inositolphosphodiesterase activity|metal ion binding NS(1)|breast(1)|cervix(1)|endometrium(6)|large_intestine(8)|lung(3)|ovary(2) 22 Renal(35;0.156) TTTTGTGATCCAGACATTGGA 0.542000 6 33 0.00116845 0.00122986 1 1 0 TAS1R2 80834 broad.mit.edu 37 1 19166999 19166999 + Nonsense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:19166999G>T ENST00000375371.3 - 6 1635 c.1614C>A c.(1612-1614)tgC>tgA p.C538* NM_152232.2 NP_689418.2 Q8TE23 TS1R2_HUMAN taste receptor, type 1, member 2 538 detection of chemical stimulus involved in sensory perception of sweet taste plasma membrane protein heterodimerization activity|taste receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1) 45 Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) Aspartame(DB00168) CGTTATTCGGGCAGGCCTGGC 0.587000 17 30 4.14922e-12 5.42032e-12 1 1 0 LGI2 55203 broad.mit.edu 37 4 25005234 25005234 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr4:25005234C>A ENST00000382114.4 - 8 1662 c.1477G>T c.(1477-1479)Gat>Tat p.D493Y NM_018176.3 NP_060646.2 Q8N0V4 LGI2_HUMAN leucine-rich repeat LGI family, member 2 493 extracellular region breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2) 33 Breast(46;0.173) TTCTCTTTATCCCACTGGTAT 0.473000 16 89 2.48551e-13 3.3145e-13 1 1 0 ZNF564 163050 broad.mit.edu 37 19 12639413 12639413 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:12639413C>T ENST00000339282.7 - 2 297 c.101G>A c.(100-102)cGg>cAg p.R34Q CTD-2192J16.20_ENST00000593682.1_3'UTR|ZNF709_ENST00000428311.1_Intron NM_144976.3 NP_659413.1 zinc finger protein 564 p.R34P(1) endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 18 AAAGGTTTCCCGCATCACATC 0.438000 9 120 0 0 1 0 0 RNF186 54546 broad.mit.edu 37 1 20141245 20141245 + Missense_Mutation SNP G G A rs148594830 TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:20141245G>A ENST00000375121.2 - 1 526 c.350C>T c.(349-351)tCg>tTg p.S117L RP11-91K11.2_ENST00000454736.1_RNA NM_019062.1 NP_061935.1 Q9NXI6 RN186_HUMAN ring finger protein 186 117 integral to membrane zinc ion binding kidney(1)|lung(3)|urinary_tract(1) 5 Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;7.77e-05)|Kidney(64;0.000162)|GBM - Glioblastoma multiforme(114;0.00036)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) AGGACAGAGCGATACCTCTGT 0.647000 4 125 0 0 1 0 0 TRPV4 59341 broad.mit.edu 37 12 110252298 110252298 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr12:110252298C>T ENST00000418703.2 - 1 398 c.304G>A c.(304-306)Gca>Aca p.A102T TRPV4_ENST00000261740.2_Missense_Mutation_p.A102T|TRPV4_ENST00000346520.2_Missense_Mutation_p.A102T|TRPV4_ENST00000544971.1_Missense_Mutation_p.A102T|TRPV4_ENST00000541794.1_Missense_Mutation_p.A102T|TRPV4_ENST00000537083.1_Missense_Mutation_p.A102T|TRPV4_ENST00000536838.1_Missense_Mutation_p.A68T|TRPV4_ENST00000392719.2_Missense_Mutation_p.A102T NM_001177431.1 NP_001170902.1 Q9HBA0 TRPV4_HUMAN transient receptor potential cation channel, subfamily V, member 4 102 actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1) 35 TCCATGGGTGCTTTCTTGGGC 0.547000 11 32 0 0 1 0 0 USP33 23032 broad.mit.edu 37 1 78193978 78193978 + Splice_Site SNP A A G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:78193978A>G ENST00000370793.1 - 11 1575 c.e11+1 USP33_ENST00000370792.3_Splice_Site|USP33_ENST00000357428.1_Splice_Site|USP33_ENST00000370794.3_Splice_Site NM_015017.4 NP_055832.3 Q8TEY7 UBP33_HUMAN ubiquitin specific peptidase 33 axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process perinuclear region of cytoplasm|VCB complex cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1) 44 CTAAATTGTCACCTGAAGCTC 0.323000 20 42 0 0 1 0 0 SH3PXD2B 285590 broad.mit.edu 37 5 171765622 171765622 + Silent SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr5:171765622G>A ENST00000311601.5 - 13 2657 c.2487C>T c.(2485-2487)acC>acT p.T829T SH3PXD2B_ENST00000519643.1_Intron NM_001017995.2 NP_001017995.1 A1X283 SPD2B_HUMAN SH3 and PX domains 2B 829 adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly cell junction|cell projection|cytoplasm|podosome phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 36 Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175) Medulloblastoma(196;0.0207)|all_neural(177;0.0625) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) CAATCTTGCCGGTCCCCCATG 0.587000 10 16 0 0 1 0 0 HNF4G 3174 broad.mit.edu 37 8 76471133 76471133 + Silent SNP C C G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr8:76471133C>G ENST00000396423.2 + 8 1078 c.954C>G c.(952-954)tcC>tcG p.S318S HNF4G_ENST00000354370.1_Silent_p.S281S NM_004133.4 NP_004124.4 Q14541 HNF4G_HUMAN hepatocyte nuclear factor 4, gamma 281 endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 37 Breast(64;0.0448) BRCA - Breast invasive adenocarcinoma(89;0.161) AGTATGACTCCCGGGGGAGGT 0.463000 37 55 0 0 1 0 0 ATP2A1 487 broad.mit.edu 37 16 28898956 28898956 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr16:28898956G>A ENST00000395503.4 + 8 1025 c.841G>A c.(841-843)Gac>Aac p.D281N ATP2A1_ENST00000536376.1_Missense_Mutation_p.D156N|ATP2A1_ENST00000357084.3_Missense_Mutation_p.D281N NM_004320.4 NP_004311.1 O14983 AT2A1_HUMAN ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 281 apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2) 38 CCACTTCAACGACCCCGTCCA 0.572000 30 117 0 0 1 0 0 LRRC37A3 374819 broad.mit.edu 37 17 62893373 62893373 + Translation_Start_Site SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr17:62893373C>A ENST00000584306.1 - 3 533 c.3G>T c.(1-3)atG>atT p.M1I RP11-927P21.1_ENST00000584959.1_RNA|LRRC37A3_ENST00000339474.5_Intron|LRRC37A3_ENST00000319651.5_Start_Codon_SNP_p.M1I|RP11-927P21.1_ENST00000584131.1_RNA|LRRC37A3_ENST00000400877.3_Intron NM_199340.2 NP_955372.2 O60309 L37A3_HUMAN leucine rich repeat containing 37, member A3 1 integral to membrane NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 GAGCGGAAGTCATTCTGGCAG 0.557000 10 193 0.00621372 0.00645547 1 1 0 NTRK3 4916 broad.mit.edu 37 15 88420315 88420315 + Silent SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr15:88420315G>T ENST00000394480.1 - 19 2650 c.2329C>A c.(2329-2331)Cgg>Agg p.R777R NTRK3_ENST00000357724.2_Silent_p.R783R|NTRK3_ENST00000355254.2_Silent_p.R777R|NTRK3_ENST00000557856.1_Silent_p.R769R|NTRK3_ENST00000360948.2_Silent_p.R791R NM_001243101.1|NM_002530.3 NP_001230030.1|NP_002521.2 Q16288 NTRK3_HUMAN neurotrophic tyrosine kinase, receptor, type 3 791 Protein kinase. transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity ETV6/NTRK3(238) breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2) 119 BRCA - Breast invasive adenocarcinoma(143;0.211) ACTCGGGGCCGCTCCAAAACA 0.527000 T ETV6 """congenital fibrosarcoma, Secretory breast """ TSP Lung(13;0.10) 10 39 9.70103e-10 1.20484e-09 1 1 0 TSGA10 80705 broad.mit.edu 37 2 99614673 99614673 + Missense_Mutation SNP T T C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr2:99614673T>C ENST00000393483.3 - 21 2928 c.2084A>G c.(2083-2085)tAc>tGc p.Y695C TSGA10_ENST00000539964.1_Missense_Mutation_p.Y695C|TSGA10_ENST00000410001.1_Missense_Mutation_p.Y695C|TSGA10_ENST00000355053.4_Missense_Mutation_p.Y695C NM_025244.2 NP_079520.1 Q9BZW7 TSG10_HUMAN testis specific, 10 695 spermatogenesis cytoplasm|nuclear membrane NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 34 GAAATCTCTGTAGCAAAGATT 0.289000 12 34 0 0 1 0 0 SNRNP200 23020 broad.mit.edu 37 2 96955717 96955717 + Silent SNP C C A rs140118056 by1000genomes TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr2:96955717C>A ENST00000323853.5 - 21 2837 c.2760G>T c.(2758-2760)ctG>ctT p.L920L SNRNP200_ENST00000349783.5_Intron NM_014014.4 NP_054733.2 O75643 U520_HUMAN small nuclear ribonucleoprotein 200kDa (U5) 920 Helicase C-terminal 1. catalytic step 2 spliceosome|nucleoplasm|U5 snRNP ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1) 90 AGGCATAGCCCAGCCAGTTCA 0.507000 4 79 0.00909568 0.00937143 1 1 0 MYO1E 4643 broad.mit.edu 37 15 59494582 59494582 + Silent SNP C C G rs142116200 byFrequency TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr15:59494582C>G ENST00000288235.4 - 16 2040 c.1641G>C c.(1639-1641)ccG>ccC p.P547P NM_004998.3 NP_004989.2 Q12965 MYO1E_HUMAN myosin IE 547 Myosin head-like. actin filament-based movement myosin complex actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1) 33 all cancers(107;0.207) GCAGATTTTCCGGAAATAAAG 0.408000 28 58 0 0 1 0 0 NEUROD1 4760 broad.mit.edu 37 2 182543231 182543231 + Silent SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr2:182543231C>A ENST00000295108.3 - 2 814 c.357G>T c.(355-357)gcG>gcT p.A119A NEUROD1_ENST00000496876.1_Intron|CERKL_ENST00000479558.1_Intron NM_002500.4 NP_002491.2 Q13562 NDF1_HUMAN neuronal differentiation 1 119 Helix-loop-helix motif. amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus cytoplasm|nucleus chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding p.A119A(1) endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 OV - Ovarian serous cystadenocarcinoma(117;0.088) TGTCTAGCGCCGCGTTCAGTC 0.542000 11 46 2.80697e-09 3.43296e-09 1 1 0 PTPRJ 5795 broad.mit.edu 37 11 48186026 48186026 + Missense_Mutation SNP T T C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:48186026T>C ENST00000418331.2 + 24 4166 c.3814T>C c.(3814-3816)Tat>Cat p.Y1272H NM_002843.3 NP_002834.3 Q12913 PTPRJ_HUMAN protein tyrosine phosphatase, receptor type, J 1272 Tyrosine-protein phosphatase. contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 TGGGATTGTGTATGACCTTCG 0.453000 9 56 0 0 1 0 0 PLEKHH2 130271 broad.mit.edu 37 2 43927371 43927371 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr2:43927371G>T ENST00000282406.4 + 8 1384 c.1274G>T c.(1273-1275)gGa>gTa p.G425V NM_172069.3 NP_742066.2 Q8IVE3 PKHH2_HUMAN pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 425 cytoplasm|cytoskeleton|integral to membrane binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) TCACTCTCTGGAAAAGGAACA 0.443000 45 148 2.77807e-22 4.17362e-22 1 1 0 CAMKV 79012 broad.mit.edu 37 3 49897094 49897094 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr3:49897094G>T ENST00000477224.1 - 11 1641 c.1163C>A c.(1162-1164)cCa>cAa p.P388Q CAMKV_ENST00000488336.1_Missense_Mutation_p.P357Q|CAMKV_ENST00000463537.1_Missense_Mutation_p.Q320K|CAMKV_ENST00000467248.1_Missense_Mutation_p.P313Q|CAMKV_ENST00000466940.1_Missense_Mutation_p.P314Q|CAMKV_ENST00000296471.7_Missense_Mutation_p.P360Q Q8NCB2 CAMKV_HUMAN CaM kinase-like vesicle-associated 388 Ala-rich. cytoplasmic vesicle membrane|plasma membrane ATP binding|protein serine/threonine kinase activity central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(2) 7 BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621) ATCTGTGGCTGGGGTGGCACT 0.622000 49 63 1.21353e-23 1.84414e-23 1 1 0 AHDC1 27245 broad.mit.edu 37 1 27878268 27878268 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:27878268G>A ENST00000374011.2 - 6 1327 c.359C>T c.(358-360)cCa>cTa p.P120L AHDC1_ENST00000482400.2_5'UTR|AHDC1_ENST00000247087.5_Missense_Mutation_p.P120L NM_001029882.2 NP_001025053.1 Q5TGY3 AHDC1_HUMAN AT hook, DNA binding motif, containing 1 120 Pro-rich. DNA binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 42 all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291) CTGCACCACTGGTCGCAGGTT 0.662000 100 225 0 0 1 0 0 BAZ1A 11177 broad.mit.edu 37 14 35264947 35264947 + Missense_Mutation SNP T T C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr14:35264947T>C ENST00000360310.1 - 10 1720 c.1153A>G c.(1153-1155)Aag>Gag p.K385E BAZ1A_ENST00000382422.2_Missense_Mutation_p.K385E|BAZ1A_ENST00000358716.4_Missense_Mutation_p.K385E NM_013448.2 NP_038476.2 Q9NRL2 BAZ1A_HUMAN bromodomain adjacent to zinc finger domain, 1A 385 chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent ACF complex zinc ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 Breast(36;0.0388)|Hepatocellular(127;0.158) LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175) GBM - Glioblastoma multiforme(112;0.0659) TACTTTCGCTTTTCTTCACGT 0.333000 12 70 0 0 1 0 0 MCAM 4162 broad.mit.edu 37 11 119181508 119181508 + Missense_Mutation SNP T T A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:119181508T>A ENST00000264036.4 - 14 1765 c.1751A>T c.(1750-1752)aAg>aTg p.K584M MCAM_ENST00000392814.1_3'UTR NM_006500.2 NP_006491.2 P43121 MUC18_HUMAN melanoma cell adhesion molecule 584 anatomical structure morphogenesis|cell adhesion integral to membrane|plasma membrane breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|skin(1) 22 Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;3.78e-05) CTTGCCCTTCTTATAGAGGAA 0.652000 52 187 0 0 1 0 0 CLSTN2 64084 broad.mit.edu 37 3 140251315 140251315 + Silent SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr3:140251315C>T ENST00000458420.3 + 9 1684 c.1494C>T c.(1492-1494)ggC>ggT p.G498G NM_022131.2 NP_071414.2 Q9H4D0 CSTN2_HUMAN calsyntenin 2 498 homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 87 TCACAGTCGGCGCTTGTTGGC 0.443000 HNSCC(16;0.037) 21 66 0 0 1 0 0 STX1B 112755 broad.mit.edu 37 16 31004142 31004142 + Nonstop_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr16:31004142C>A ENST00000215095.5 - 10 1098 c.867G>T c.(865-867)taG>taT p.*289Y STX1B_ENST00000565419.1_3'UTR NM_052874.3 NP_443106.1 P61266 STX1B_HUMAN syntaxin 1B 0 intracellular protein transport|neurotransmitter transport|synaptic transmission integral to plasma membrane extracellular-glutamate-gated ion channel activity|SNAP receptor activity breast(2)|endometrium(1)|large_intestine(5)|lung(5) 13 TGGGGGGGGCCTACAAGCCCA 0.597000 6 36 0.0477658 0.0485449 1 1 0 EGFR 1956 broad.mit.edu 37 7 55259515 55259515 + Missense_Mutation SNP T T G rs121434568 TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr7:55259515T>G ENST00000275493.2 + 21 2750 c.2573T>G c.(2572-2574)cTg>cGg p.L858R EGFR_ENST00000455089.1_Missense_Mutation_p.L813R|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_Missense_Mutation_p.L805R NM_005228.3 NP_005219.2 P00533 EGFR_HUMAN epidermal growth factor receptor 858 Protein kinase. L -> M (found in a lung cancer sample).|L -> R (found in a lung cancer sample; somatic mutation; constitutively activated enzyme with strongly increased kinase activity). activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.L858R(1489)|p.L858Q(1)|p.L858K(1) NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6) 14110 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) GATTTTGGGCTGGCCAAACTG 0.537000 L858R(NCIH1975_LUNG) 8 """A, O, Mis""" """glioma, NSCLC""" NSCLC Lung Cancer, Familial Clustering of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 59 65 0 0 1 0 0 ZNF521 25925 broad.mit.edu 37 18 22806393 22806393 + Nonsense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr18:22806393G>A ENST00000361524.3 - 4 1637 c.1489C>T c.(1489-1491)Cga>Tga p.R497* ZNF521_ENST00000584787.1_Nonsense_Mutation_p.R277*|ZNF521_ENST00000538137.2_Nonsense_Mutation_p.R497* NM_015461.2 NP_056276.1 Q96K83 ZN521_HUMAN zinc finger protein 521 497 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein domain specific binding|zinc ion binding p.R497*(1) NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 149 all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991) TGAGAACATCGGATGTGTTCC 0.463000 T PAX5 ALL 5 73 0 0 1 0 0 PTPRB 5787 broad.mit.edu 37 12 70946630 70946630 + Missense_Mutation SNP T T A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr12:70946630T>A ENST00000334414.6 - 21 5358 c.5314A>T c.(5314-5316)Agc>Tgc p.S1772C PTPRB_ENST00000550358.1_Missense_Mutation_p.S1684C|PTPRB_ENST00000451516.2_Missense_Mutation_p.S1464C|PTPRB_ENST00000261266.5_Missense_Mutation_p.S1554C|PTPRB_ENST00000538708.1_Missense_Mutation_p.S1464C|PTPRB_ENST00000550857.1_Missense_Mutation_p.S1464C NM_001109754.2 NP_001103224.1 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 1554 Tyrosine-protein phosphatase. angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3) 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) CCACCTAGGCTCTCCATCTCT 0.428000 16 67 0 0 1 0 0 NID2 22795 broad.mit.edu 37 14 52520985 52520985 + Silent SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr14:52520985G>T ENST00000216286.5 - 4 821 c.822C>A c.(820-822)tcC>tcA p.S274S NID2_ENST00000541773.1_Silent_p.S221S NM_007361.3 NP_031387.3 Q14112 NID2_HUMAN nidogen 2 (osteonidogen) 274 basement membrane calcium ion binding|collagen binding NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 87 Breast(41;0.0639)|all_epithelial(31;0.123) TGTCCAACGGGGAAGTGCTGC 0.502000 21 31 1.85244e-09 2.28927e-09 1 1 0 TRPC6 7225 broad.mit.edu 37 11 101343050 101343050 + Missense_Mutation SNP A A T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:101343050A>T ENST00000344327.3 - 8 2447 c.2023T>A c.(2023-2025)Ttt>Att p.F675I TRPC6_ENST00000348423.4_Missense_Mutation_p.F559I|TRPC6_ENST00000360497.4_Missense_Mutation_p.F620I|TRPC6_ENST00000532133.1_Missense_Mutation_p.F597I NM_004621.5 NP_004612.2 Q9Y210 TRPC6_HUMAN transient receptor potential cation channel, subfamily C, member 6 675 axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity integral to membrane|plasma membrane protein binding autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162) BRCA - Breast invasive adenocarcinoma(274;0.0442) AGTGTCTTAAAACTCTCTTCA 0.299000 6 51 0 0 1 0 0 RFX1 5989 broad.mit.edu 37 19 14073961 14073961 + Silent SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:14073961G>A ENST00000254325.4 - 19 2931 c.2697C>T c.(2695-2697)ggC>ggT p.G899G NM_002918.4 NP_002909.4 P22670 RFX1_HUMAN regulatory factor X, 1 (influences HLA class II expression) 899 Necessary for dimerization. immune response nucleus DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(19;6.67e-23) TGGGGGTCTCGCCCTTGGCCT 0.687000 13 34 0 0 1 0 0 OR5B3 441608 broad.mit.edu 37 11 58170604 58170604 + Missense_Mutation SNP A A C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:58170604A>C ENST00000309403.2 - 1 278 c.279T>G c.(277-279)aaT>aaG p.N93K NM_001005469.1 NP_001005469.1 Q8NH48 OR5B3_HUMAN olfactory receptor, family 5, subfamily B, member 3 93 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1) 34 Esophageal squamous(5;0.0027) Breast(21;0.0778) CAGCACATGCATTGTAAGAGA 0.443000 35 114 0 0 1 0 0 OCRL 4952 broad.mit.edu 37 X 128696582 128696582 + Nonsense_Mutation SNP A A T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chrX:128696582A>T ENST00000371113.4 + 12 1228 c.1063A>T c.(1063-1065)Aaa>Taa p.K355* OCRL_ENST00000357121.5_Nonsense_Mutation_p.K355* NM_000276.3 NP_000267.2 Q01968 OCRL_HUMAN oculocerebrorenal syndrome of Lowe 355 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3) 48 ACAGGGAAACAAAGGTGGGGT 0.388000 19 61 0 0 1 0 0 IFI44L 10964 broad.mit.edu 37 1 79107205 79107205 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:79107205C>A ENST00000370751.4 + 8 1414 c.1235C>A c.(1234-1236)cCc>cAc p.P412H IFI44L_ENST00000342282.3_Missense_Mutation_p.P154H|IFI44L_ENST00000476521.1_3'UTR NM_006820.2 NP_006811.2 Q53G44 IF44L_HUMAN interferon-induced protein 44-like 412 cytoplasm endometrium(4)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 22 GAACTGGACCCCATGAAGGAT 0.418000 26 52 1.55469e-16 2.20568e-16 1 1 0 CELSR3 1951 broad.mit.edu 37 3 48696507 48696507 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr3:48696507G>T ENST00000544264.1 - 1 3841 c.3561C>A c.(3559-3561)ttC>ttA p.F1187L CELSR3_ENST00000164024.4_Missense_Mutation_p.F1187L Q9NYQ7 CELR3_HUMAN cadherin, EGF LAG seven-pass G-type receptor 3 1187 Cadherin 9. homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 83 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) TGCCCGACGGGAAGGTGTCTG 0.542000 40 40 1.22674e-20 1.82104e-20 1 1 0 PTCHD2 57540 broad.mit.edu 37 1 11586708 11586708 + Splice_Site SNP G G C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:11586708G>C ENST00000294484.6 + 13 2752 c.2613_splice c.e13-1 p.V872_splice PTCHD2_ENST00000389575.3_Splice_Site_p.V872_splice NM_020780.1 NP_065831.1 Q9P2K9 PTHD2_HUMAN patched domain containing 2 872 cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway endoplasmic reticulum|integral to membrane|nuclear membrane hedgehog receptor activity NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 76 Ovarian(185;0.249) Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549) CACTGCTTAGGTGTATAGAGC 0.602000 88 223 0 0 1 0 0 MEMO1 51072 broad.mit.edu 37 2 32093470 32093470 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr2:32093470C>A ENST00000295065.4 - 9 1163 c.854G>T c.(853-855)aGt>aTt p.S285I MEMO1_ENST00000404530.1_Missense_Mutation_p.S285I|MEMO1_ENST00000490459.1_5'UTR|DPY30_ENST00000446765.1_5'UTR|MEMO1_ENST00000426310.2_Missense_Mutation_p.S262I|MEMO1_ENST00000379383.3_Missense_Mutation_p.S288I NM_015955.2 NP_057039.1 Q9Y316 MEMO1_HUMAN mediator of cell motility 1 285 regulation of microtubule-based process cytosol|nucleus NS(1)|breast(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|skin(2) 17 Acute lymphoblastic leukemia(172;0.155) ACTCACTGAACTGTCTTGCCA 0.483000 8 15 1.12685e-05 1.25998e-05 1 1 0 DNAH3 55567 broad.mit.edu 37 16 20996912 20996912 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr16:20996912C>A ENST00000261383.3 - 48 7151 c.7152G>T c.(7150-7152)caG>caT p.Q2384H DNAH3_ENST00000415178.1_3'UTR NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 2384 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) CCACAGTCAGCTGTTTCAGGT 0.438000 31 117 1.22384e-17 1.75628e-17 1 1 0 PDZD2 23037 broad.mit.edu 37 5 31799453 31799453 + Missense_Mutation SNP G G C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr5:31799453G>C ENST00000438447.1 + 2 486 c.98G>C c.(97-99)cGg>cCg p.R33P PDZD2_ENST00000282493.3_Missense_Mutation_p.R33P O15018 PDZD2_HUMAN PDZ domain containing 2 33 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 CCGGAGCAGCGGCTCTGCCAG 0.622000 38 213 0 0 1 0 0 DST 667 broad.mit.edu 37 6 56347480 56347480 + Splice_Site SNP C C G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr6:56347480C>G ENST00000370754.5 - 89 21309 c.e89+1 DST_ENST00000370769.4_Splice_Site|DST_ENST00000446842.2_Splice_Site|DST_ENST00000370788.2_Splice_Site|DST_ENST00000361203.3_Splice_Site|DST_ENST00000312431.6_Splice_Site|DST_ENST00000244364.6_Splice_Site|DST_ENST00000421834.2_Splice_Site Q03001 DYST_HUMAN dystonin cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) ATGGTTTTTACCTGACGCAGG 0.448000 28 79 0 0 1 0 0 NLRP5 126206 broad.mit.edu 37 19 56539623 56539623 + Missense_Mutation SNP A A T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:56539623A>T ENST00000390649.3 + 7 2024 c.2024A>T c.(2023-2025)cAg>cTg p.Q675L NM_153447.4 NP_703148.4 P59047 NALP5_HUMAN NLR family, pyrin domain containing 5 675 mitochondrion|nucleolus ATP binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2) 25 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) TTGGGTCAGCAGCCTAATGCC 0.562000 23 95 0 0 1 0 0 TNC 3371 broad.mit.edu 37 9 117848761 117848761 + Missense_Mutation SNP G G A rs150548325 TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr9:117848761G>A ENST00000350763.4 - 3 1660 c.1249C>T c.(1249-1251)Cgc>Tgc p.R417C TNC_ENST00000345230.3_Missense_Mutation_p.R417C|TNC_ENST00000340094.3_Missense_Mutation_p.R417C|TNC_ENST00000542877.1_Missense_Mutation_p.R417C|TNC_ENST00000535648.1_Missense_Mutation_p.R417C|TNC_ENST00000341037.4_Missense_Mutation_p.R417C|TNC_ENST00000423613.2_Missense_Mutation_p.R417C|TNC_ENST00000537320.1_Missense_Mutation_p.R417C|TNC_ENST00000346706.3_Missense_Mutation_p.R417C NM_002160.3 NP_002151.2 P24821 TENA_HUMAN tenascin C 417 EGF-like 9. cell adhesion|response to wounding|signal transduction extracellular space receptor binding|syndecan binding NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 120 TTGACACAGCGGCCATGGCCA 0.602000 14 103 0 0 1 0 0 SYTL2 54843 broad.mit.edu 37 11 85445287 85445287 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:85445287G>T ENST00000316356.4 - 7 1649 c.1085C>A c.(1084-1086)tCt>tAt p.S362Y SYTL2_ENST00000527523.1_Missense_Mutation_p.S313Y|SYTL2_ENST00000524452.1_Missense_Mutation_p.S361Y|SYTL2_ENST00000389960.4_Missense_Mutation_p.S361Y|SYTL2_ENST00000528231.1_Missense_Mutation_p.S361Y Q9HCH5 SYTL2_HUMAN synaptotagmin-like 2 361 intracellular protein transport|vesicle docking involved in exocytosis exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033) KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237) CAATCTGTCAGATTCTAAAAC 0.433000 40 125 1.59932e-28 2.48771e-28 1 1 0 NOX1 27035 broad.mit.edu 37 X 100103737 100103737 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chrX:100103737G>T ENST00000372966.3 - 12 1655 c.1450C>A c.(1450-1452)Cat>Aat p.H484N NOX1_ENST00000372964.1_Intron|NOX1_ENST00000217885.5_Missense_Mutation_p.H435N|NOX1_ENST00000372960.4_Missense_Mutation_p.H447N NM_007052.4|NM_013955.2 NP_008983.2|NP_039249.1 Q9Y5S8 NOX1_HUMAN NADPH oxidase 1 484 Interaction with NOXO1. angiogenesis|cell migration|electron transport chain|FADH2 metabolic process|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation cell junction|early endosome|invadopodium membrane|NADPH oxidase complex electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|Rac GTPase binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity cervix(1)|lung(3)|ovary(1)|skin(2) 7 AATGCTGCATGACCAACCTGG 0.473000 20 83 5.03518e-11 6.46105e-11 1 1 0 CEP70 80321 broad.mit.edu 37 3 138289314 138289314 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr3:138289314C>T ENST00000264982.3 - 6 577 c.311G>A c.(310-312)cGa>cAa p.R104Q CEP70_ENST00000542237.1_Missense_Mutation_p.R84Q|CEP70_ENST00000489254.1_Intron|CEP70_ENST00000484888.1_Missense_Mutation_p.R104Q|CEP70_ENST00000481834.1_Missense_Mutation_p.R104Q|CEP70_ENST00000478673.1_5'UTR|CEP70_ENST00000464035.1_Missense_Mutation_p.R104Q NM_024491.2 NP_077817.2 Q8NHQ1 CEP70_HUMAN centrosomal protein 70kDa 104 G2/M transition of mitotic cell cycle centrosome|cytosol protein binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(6)|skin(3) 24 ATTGGCTGCTCGGCTTTGCTC 0.348000 19 43 0 0 1 0 0 NIPAL3 57185 broad.mit.edu 37 1 24785405 24785405 + Silent SNP C C T rs151305924 TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:24785405C>T ENST00000003912.3 + 10 1270 c.555C>T c.(553-555)taC>taT p.Y185Y NIPAL3_ENST00000339255.2_Silent_p.Y267Y|NIPAL3_ENST00000374399.4_Silent_p.Y267Y Q6P499 NPAL3_HUMAN NIPA-like domain containing 3 267 integral to membrane endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(1) 14 CACAGATGTACGACTCCTCTT 0.468000 3 44 0 0 1 0 0 GPATCH3 63906 broad.mit.edu 37 1 27223872 27223872 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:27223872C>T ENST00000361720.5 - 2 819 c.796G>A c.(796-798)Gca>Aca p.A266T NM_022078.2 NP_071361.2 Q96I76 GPTC3_HUMAN G patch domain containing 3 266 Glu-rich. intracellular nucleic acid binding endometrium(2)|large_intestine(1)|lung(11)|skin(1) 15 all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419) GGTATATCTGCCAGGTAGGTT 0.522000 87 181 0 0 1 0 0 DNAH11 8701 broad.mit.edu 37 7 21639598 21639598 + Missense_Mutation SNP A A T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr7:21639598A>T ENST00000328843.6 + 15 2892 c.2861A>T c.(2860-2862)gAg>gTg p.E954V DNAH11_ENST00000409508.3_Missense_Mutation_p.E954V Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 954 Stem (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 TTGCCTCCTGAGATTGTGTTT 0.408000 Kartagener syndrome 5 39 0 0 1 0 0 UBXN7 26043 broad.mit.edu 37 3 196129880 196129880 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr3:196129880G>A ENST00000296328.4 - 3 306 c.232C>T c.(232-234)Cgt>Tgt p.R78C UBXN7_ENST00000428095.1_Intron|UBXN7_ENST00000535858.1_5'UTR NM_015562.1 NP_056377.1 O94888 UBXN7_HUMAN UBX domain protein 7 78 protein binding NS(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 18 ATTGGGGCACGAACTTCTTCT 0.318000 60 127 0 0 1 0 0 LRRC7 57554 broad.mit.edu 37 1 70509749 70509749 + Missense_Mutation SNP T T G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:70509749T>G ENST00000035383.5 + 20 3998 c.3968T>G c.(3967-3969)tTt>tGt p.F1323C LRRC7_ENST00000415775.2_Missense_Mutation_p.F607C|LRRC7_ENST00000310961.5_Intron NM_020794.2 NP_065845.1 Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 1323 centrosome|focal adhesion|nucleolus protein binding breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 162 AAGTCTAAATTTGATCATCAA 0.388000 7 47 0 0 1 0 0 CTD-2066L21.3 0 broad.mit.edu 37 5 33162816 33162816 + RNA SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr5:33162816C>A ENST00000510327.1 - 0 346 TGCATCGCTTCAAGGCCGGGA 0.473000 13 34 0.000151284 0.000164325 1 1 0 ESYT2 57488 broad.mit.edu 37 7 158580784 158580784 + Splice_Site SNP T T A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr7:158580784T>A ENST00000251527.5 - 6 867 c.801_splice c.e6-1 p.I268_splice NM_020728.2 NP_065779.1 A0FGR8 ESYT2_HUMAN extended synaptotagmin-like protein 2 296 integral to membrane|plasma membrane breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2) 32 GTACCATGAATCTAAACTCAA 0.413000 7 53 0 0 1 0 0 ATRN 8455 broad.mit.edu 37 20 3553468 3553468 + Missense_Mutation SNP A A C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr20:3553468A>C ENST00000262919.5 + 12 2030 c.1962A>C c.(1960-1962)gaA>gaC p.E654D ATRN_ENST00000446916.2_Missense_Mutation_p.E654D NM_139321.2 NP_647537.1 O75882 ATRN_HUMAN attractin 654 inflammatory response extracellular space|integral to plasma membrane receptor activity|sugar binding breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 59 ATCGGAGTGAAGCCGCTTGTT 0.512000 18 70 0 0 1 0 0 FBXO27 126433 broad.mit.edu 37 19 39517531 39517531 + Nonsense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:39517531C>T ENST00000292853.4 - 5 806 c.687G>A c.(685-687)tgG>tgA p.W229* FBXO27_ENST00000509137.2_Nonsense_Mutation_p.W229*|FBXO27_ENST00000600828.1_Nonsense_Mutation_p.W228* NM_178820.3 NP_849142.1 Q8NI29 FBX27_HUMAN F-box protein 27 229 FBA. protein catabolic process SCF ubiquitin ligase complex glycoprotein binding cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|urinary_tract(2) 17 all_cancers(60;3.79e-07)|all_lung(34;1.26e-07)|Lung NSC(34;1.46e-07)|all_epithelial(25;4.69e-07)|Ovarian(47;0.0454) Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554) CATTGTTGTTCCACTGCGGGA 0.512000 44 116 0 0 1 0 0 ASB2 51676 broad.mit.edu 37 14 94404126 94404126 + Silent SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr14:94404126G>A ENST00000555019.1 - 9 2119 c.1689C>T c.(1687-1689)taC>taT p.Y563Y ASB2_ENST00000315988.4_Silent_p.Y515Y NM_001202429.1 NP_001189358.1 Q96Q27 ASB2_HUMAN ankyrin repeat and SOCS box containing 2 515 SOCS box. intracellular signal transduction breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1) 27 all_cancers(154;0.13) COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232) CGTTGCCCACGTAGTCCAGGA 0.592000 13 48 0 0 1 0 0 GUCY2C 2984 broad.mit.edu 37 12 14849223 14849223 + Missense_Mutation SNP A A T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr12:14849223A>T ENST00000261170.3 - 1 296 c.160T>A c.(160-162)Ttg>Atg p.L54M RP11-174G6.1_ENST00000501178.2_RNA NM_004963.3 NP_004954.2 P25092 GUC2C_HUMAN guanylate cyclase 2C (heat stable enterotoxin receptor) 54 intracellular signal transduction|receptor guanylyl cyclase signaling pathway integral to membrane ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1) 51 GCATCTTCCAAGTTTTTCAGG 0.473000 18 38 0 0 1 0 0 KIF1C 10749 broad.mit.edu 37 17 4923973 4923973 + Splice_Site SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr17:4923973G>A ENST00000320785.5 + 20 2294 c.1937_splice c.e20+1 p.R646_splice KIF1C_ENST00000573815.1_3'UTR NM_006612.5 NP_006603.2 O43896 KIF1C_HUMAN kinesin family member 1C 646 microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER endoplasmic reticulum|Golgi apparatus|microtubule ATP binding|microtubule motor activity NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3) 30 ATGGAGAAGAGGTGCGAGGGG 0.617000 15 11 0 0 1 0 0 SNORD114-28 767609 broad.mit.edu 37 14 101455530 101455530 + RNA SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr14:101455530G>T ENST00000363610.1 + 0 64 NR_003221.1 CTAGAACTCTGAGGTCCATCA 0.388000 59 121 6.60958e-23 9.97664e-23 1 1 0 NRG3 10718 broad.mit.edu 37 10 84118501 84118501 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr10:84118501C>T ENST00000372142.2 + 3 441 c.167C>T c.(166-168)aCg>aTg p.T56M NRG3_ENST00000372141.2_Missense_Mutation_p.T277M|NRG3_ENST00000404547.1_Missense_Mutation_p.T277M|NRG3_ENST00000556918.1_Missense_Mutation_p.T107M|NRG3_ENST00000404576.2_Missense_Mutation_p.T81M NM_001165973.1 NP_001159445.1 P56975 NRG3_HUMAN neuregulin 3 277 regulation of cell growth extracellular region|integral to plasma membrane growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09) ACAGATACGACGACATATTCC 0.517000 13 93 0 0 1 0 0 SDSL 113675 broad.mit.edu 37 12 113875759 113875759 + Missense_Mutation SNP C C T rs113748832 TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr12:113875759C>T ENST00000403593.4 + 8 1127 c.865C>T c.(865-867)Cgg>Tgg p.R289W SDSL_ENST00000345635.4_Missense_Mutation_p.R289W Q96GA7 SDSL_HUMAN serine dehydratase-like 289 cellular amino acid metabolic process L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|pyridoxal phosphate binding endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2) 15 Pyridoxal Phosphate(DB00114) AGGCCTCCTGCGGAGGCTCCA 0.607000 10 355 0 0 1 0 0 ABCA5 23461 broad.mit.edu 37 17 67247928 67247928 + Missense_Mutation SNP C C G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr17:67247928C>G ENST00000392676.3 - 35 4559 c.4495G>C c.(4495-4497)Gtc>Ctc p.V1499L ABCA5_ENST00000392677.2_Missense_Mutation_p.V1500L|ABCA5_ENST00000588877.1_Missense_Mutation_p.V1499L Q8WWZ7 ABCA5_HUMAN ATP-binding cassette, sub-family A (ABC1), member 5 1499 ABC transporter 2. cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane ATP binding|ATPase activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 54 Breast(10;3.72e-11) CGATCACAGACAGCCTCTGCC 0.443000 55 52 0 0 1 0 0 DAB2IP 153090 broad.mit.edu 37 9 124534910 124534910 + Silent SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr9:124534910G>A ENST00000408936.3 + 12 2285 c.2103G>A c.(2101-2103)ccG>ccA p.P701P DAB2IP_ENST00000309989.1_Silent_p.P577P|DAB2IP_ENST00000259371.2_Silent_p.P673P Q5VWQ8 DAB2P_HUMAN DAB2 interacting protein 701 activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter cytoplasm|intrinsic to internal side of plasma membrane 14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 27 CCCGGTTACCGTCTCCAACCC 0.557000 17 123 0 0 1 0 0 OR10G8 219869 broad.mit.edu 37 11 123900696 123900696 + Silent SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:123900696C>T ENST00000431524.1 + 1 400 c.367C>T c.(367-369)Ctg>Ttg p.L123L NM_001004464.1 NP_001004464.1 Q8NGN5 O10G8_HUMAN olfactory receptor, family 10, subfamily G, member 8 123 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 44 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521) TGATCGCTACCTGGCCATCAG 0.562000 6 222 0 0 1 0 0 PHACTR3 116154 broad.mit.edu 37 20 58416515 58416515 + Silent SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr20:58416515C>T ENST00000371015.1 + 11 1979 c.1512C>T c.(1510-1512)taC>taT p.Y504Y PHACTR3_ENST00000541461.1_Silent_p.Y463Y|PHACTR3_ENST00000359926.3_Silent_p.Y501Y|PHACTR3_ENST00000355648.4_Silent_p.Y463Y|PHACTR3_ENST00000395636.2_Silent_p.Y463Y|PHACTR3_ENST00000361300.4_Silent_p.Y393Y|PHACTR3_ENST00000395639.4_Silent_p.Y393Y NM_080672.3 NP_542403.1 Q96KR7 PHAR3_HUMAN phosphatase and actin regulator 3 504 Required for PP1CA binding and inhibition of PP1 activity. nuclear matrix actin binding|protein phosphatase inhibitor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 59 all_lung(29;0.00344) BRCA - Breast invasive adenocarcinoma(7;2.76e-09) TCAGTGATTACGTGGAAGTAG 0.428000 5 63 0 0 1 0 0 TUBG2 27175 broad.mit.edu 37 17 40817826 40817826 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr17:40817826C>T ENST00000251412.7 + 8 1023 c.824C>T c.(823-825)cCg>cTg p.P275L NM_016437.2 NP_057521.1 Q9NRH3 TBG2_HUMAN tubulin, gamma 2 275 G2/M transition of mitotic cell cycle|microtubule-based process|protein polymerization cytosol GTP binding|GTPase activity|structural molecule activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1) 15 Breast(137;0.00116) BRCA - Breast invasive adenocarcinoma(366;0.141) GGCTACACCCCGCTCACTACA 0.632000 63 168 0 0 1 0 0 BRINP2 57795 broad.mit.edu 37 1 177199078 177199078 + Silent SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:177199078G>T ENST00000361539.4 + 2 378 c.66G>T c.(64-66)ctG>ctT p.L22L NM_021165.2 NP_066988.1 Q9C0B6 FAM5B_HUMAN 22 extracellular region breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 94 GGACAGCCCTGCTGGCACTGG 0.662000 25 83 1.55469e-16 2.20568e-16 1 1 0 C10orf71 118461 broad.mit.edu 37 10 50530945 50530945 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr10:50530945C>T ENST00000374144.3 + 3 643 c.355C>T c.(355-357)Cca>Tca p.P119S C10orf71_ENST00000323868.4_Missense_Mutation_p.P119S Q711Q0 CJ071_HUMAN chromosome 10 open reading frame 71 119 endometrium(1) 1 CAGCCCCCCACCAACGCCAGT 0.547000 13 119 0 0 1 0 0 HNRNPU 3192 broad.mit.edu 37 1 245025941 245025941 + Silent SNP A A G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:245025941A>G ENST00000444376.2 - 2 960 c.726T>C c.(724-726)atT>atC p.I242I HNRNPU_ENST00000283179.9_Silent_p.I261I NM_004501.3|NM_031844.2 NP_004492.2|NP_114032.2 Q00839 HNRPU_HUMAN heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A) 261 CRD-mediated mRNA stabilization catalytic step 2 spliceosome|cell surface|CRD-mediated mRNA stability complex|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm ATP binding|DNA binding|protein binding|RNA binding NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.00868) TGTTCTCTTCAATGTACTCAA 0.423000 31 244 0 0 1 0 0 RMND5A 64795 broad.mit.edu 37 2 86992221 86992221 + Missense_Mutation SNP A A G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr2:86992221A>G ENST00000283632.4 + 5 1088 c.593A>G c.(592-594)tAt>tGt p.Y198C NM_022780.3 NP_073617.1 Q9H871 RMD5A_HUMAN required for meiotic nuclear division 5 homolog A (S. cerevisiae) 198 CTLH. kidney(1)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 17 CACAGACTGTATTTTATTAGC 0.378000 34 67 0 0 1 0 0 GSK3B 2932 broad.mit.edu 37 3 119582446 119582446 + Nonsense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr3:119582446G>A ENST00000264235.8 - 9 1898 c.916C>T c.(916-918)Cga>Tga p.R306* GSK3B_ENST00000473886.1_5'UTR|GSK3B_ENST00000316626.5_Nonsense_Mutation_p.R319* NM_001146156.1|NM_002093.3 NP_001139628.1|NP_002084.2 P49841 GSK3B_HUMAN glycogen synthase kinase 3 beta 306 Protein kinase. axon guidance|epithelial to mesenchymal transition|ER overload response|glycogen metabolic process|hippocampus development|negative regulation of apoptosis|negative regulation of protein binding|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|positive regulation of cell-matrix adhesion|positive regulation of protein complex assembly|positive regulation of protein export from nucleus|positive regulation of Rac GTPase activity|regulation of microtubule-based process|superior temporal gyrus development Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|nucleus|plasma membrane ATP binding|beta-catenin binding|NF-kappaB binding|p53 binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|RNA polymerase II transcription factor binding|tau-protein kinase activity|ubiquitin protein ligase binding p.R319*(2) endometrium(1)|large_intestine(8)|lung(7)|prostate(2) 18 GBM - Glioblastoma multiforme(114;0.24) Lithium(DB01356) GTTCGGGGTCGGAAGACCTGC 0.433000 13 26 0 0 1 0 0 NKX2-2 4821 broad.mit.edu 37 20 21492969 21492969 + Silent SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr20:21492969C>T ENST00000377142.4 - 2 770 c.414G>A c.(412-414)gcG>gcA p.A138A NM_002509.3 NP_002500.1 O95096 NKX22_HUMAN NK2 homeobox 2 138 brain development|positive regulation of sequence-specific DNA binding transcription factor activity nucleus chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 21 CGTAGGTCTGCGCCTTGGAGA 0.697000 6 31 0 0 1 0 0 MAF 4094 broad.mit.edu 37 16 79633527 79633527 + Silent SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr16:79633527G>A ENST00000393350.1 - 1 1084 c.273C>T c.(271-273)taC>taT p.Y91Y MAF_ENST00000569649.1_Silent_p.Y91Y|MAF_ENST00000326043.4_Silent_p.Y91Y NM_001031804.2 NP_001026974.1 O75444 MAF_HUMAN v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog 91 transcription from RNA polymerase II promoter chromatin|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5) 10 all_epithelial(2;0.139)|Lung NSC(2;0.186)|Melanoma(2;0.211) UCEC - Uterine corpus endometrioid carcinoma (2;0.0178) TCATCCAGTAGTAGTCTTCCA 0.701000 T IGH@ MM 10 11 0 0 1 0 0 ZSCAN1 284312 broad.mit.edu 37 19 58549479 58549479 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:58549479G>T ENST00000282326.1 + 3 522 c.275G>T c.(274-276)aGc>aTc p.S92I ZSCAN1_ENST00000391700.1_Missense_Mutation_p.S92I|ZSCAN1_ENST00000601162.1_Missense_Mutation_p.S92I NM_182572.3 NP_872378.3 Q8NBB4 ZSCA1_HUMAN zinc finger and SCAN domain containing 1 92 SCAN box. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152) GCGCTGCCCAGCAAGATGCGG 0.682000 4 25 0.00909568 0.00937143 1 1 0 PKD1L2 114780 broad.mit.edu 37 16 81181855 81181855 + RNA SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr16:81181855G>A ENST00000525539.1 - 0 4860 PKD1L2_ENST00000533478.1_RNA NM_052892.3 NP_443124.3 Q7Z442 PK1L2_HUMAN polycystic kidney disease 1-like 2 neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity|sugar binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 TTCGCGACCCGGGGACGGGTG 0.587000 13 40 0 0 1 0 0 HOXA13 3209 broad.mit.edu 37 7 27239030 27239030 + Missense_Mutation SNP A A T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr7:27239030A>T ENST00000222753.4 - 1 695 c.667T>A c.(667-669)Tcc>Acc p.S223T HOTTIP_ENST00000421733.1_RNA NM_000522.4 NP_000513.2 P31271 HXA13_HUMAN homeobox A13 223 skeletal system development nucleus sequence-specific DNA binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2) 6 TTAGCGCGGGAGCTGAACTCC 0.682000 T NUP98 AML 32 32 0 0 1 0 0 COTL1 23406 broad.mit.edu 37 16 84623742 84623742 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr16:84623742G>A ENST00000262428.4 - 3 449 c.287C>T c.(286-288)aCg>aTg p.T96M COTL1_ENST00000564057.1_Missense_Mutation_p.T27M NM_021149.2 NP_066972.1 Q14019 COTL1_HUMAN coactosin-like 1 (Dictyostelium) 96 ADF-H. cytoplasm|cytoskeleton actin binding|enzyme binding endometrium(1)|large_intestine(1)|liver(1)|lung(2)|skin(1) 6 GGTCTTGTCCGTCCCGGTTTT 0.602000 11 38 0 0 1 0 0 NFRKB 4798 broad.mit.edu 37 11 129740010 129740010 + Silent SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:129740010C>A ENST00000446488.3 - 23 3013 c.2910G>T c.(2908-2910)ctG>ctT p.L970L NFRKB_ENST00000524746.1_Silent_p.L970L|NFRKB_ENST00000524794.1_Silent_p.L995L|NFRKB_ENST00000304521.5_Silent_p.L970L NM_001143835.1 NP_001137307.1 Q6P4R8 NFRKB_HUMAN nuclear factor related to kappaB binding protein 970 DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Ino80 complex DNA binding|protease binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1) 32 all_hematologic(175;0.0537) Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186) OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184) GAGTGATTCGCAGAACCGTCT 0.557000 39 117 1.03484e-13 1.39157e-13 1 1 0 KCNK2 3776 broad.mit.edu 37 1 215256769 215256769 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:215256769C>A ENST00000444842.2 + 1 191 c.41C>A c.(40-42)gCa>gAa p.A14E KCNK2_ENST00000391895.2_Intron|KCNK2_ENST00000391894.2_Intron NM_001017425.2|NM_014217.3 NP_001017425.2|NP_055032.1 O95069 KCNK2_HUMAN potassium channel, subfamily K, member 2 14 outward rectifier potassium channel activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1) 30 OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068) Dofetilide(DB00204) GGCTATAGAGCAGGAGGTGAG 0.567000 19 67 3.51602e-12 4.60118e-12 1 1 0 GDF5 8200 broad.mit.edu 37 20 34022221 34022221 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr20:34022221C>T ENST00000374372.1 - 4 1495 c.992G>A c.(991-993)cGc>cAc p.R331H GDF5_ENST00000374369.3_Missense_Mutation_p.R331H|GDF5OS_ENST00000374375.1_Missense_Mutation_p.R89W P43026 GDF5_HUMAN growth differentiation factor 5 331 cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3) 26 Lung NSC(9;0.00642)|all_lung(11;0.0094) BRCA - Breast invasive adenocarcinoma(18;0.00663) CCGGGCGGCGCGGTCGAAGCC 0.632000 4 50 0 0 1 0 0 LAMB4 22798 broad.mit.edu 37 7 107748248 107748248 + Missense_Mutation SNP G G C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr7:107748248G>C ENST00000388781.3 - 6 502 c.419C>G c.(418-420)gCa>gGa p.A140G LAMB4_ENST00000414450.2_Missense_Mutation_p.A140G|LAMB4_ENST00000388780.3_Missense_Mutation_p.A140G|LAMB4_ENST00000205386.4_Missense_Mutation_p.A140G NM_007356.2 NP_031382.2 A4D0S4 LAMB4_HUMAN laminin, beta 4 140 Laminin N-terminal. 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 AACTAACATTGCAGCAGGCCG 0.363000 25 27 0 0 1 0 0 SSPO 23145 broad.mit.edu 37 7 149515067 149515067 + RNA SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr7:149515067G>A ENST00000378016.2 + 0 11457 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) CCTGGAGCCCGTGGGGCCCGT 0.682000 9 43 0 0 1 0 0 RFFL 117584 broad.mit.edu 37 17 33339091 33339091 + Nonsense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr17:33339091C>A ENST00000315249.7 - 7 1210 c.988G>T c.(988-990)Gag>Tag p.E330* RFFL_ENST00000584655.1_Nonsense_Mutation_p.E294*|RFFL_ENST00000268850.7_Nonsense_Mutation_p.E294*|RFFL_ENST00000447669.2_Nonsense_Mutation_p.E330*|RFFL_ENST00000415395.2_Nonsense_Mutation_p.E330*|RFFL_ENST00000413582.2_Nonsense_Mutation_p.E322*|RFFL_ENST00000394597.2_Nonsense_Mutation_p.E330*|RFFL_ENST00000378516.2_Nonsense_Mutation_p.E322*|RAD51L3-RFFL_ENST00000593039.1_Nonsense_Mutation_p.E239* Q8WZ73 RFFL_HUMAN ring finger and FYVE-like domain containing E3 ubiquitin protein ligase 330 apoptosis membrane ligase activity|zinc ion binding kidney(1)|large_intestine(2)|lung(3) 6 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0227) TGGCCACACTCCAGAAGAACA 0.522000 20 35 8.34094e-07 9.62878e-07 1 1 0 PLXNC1 10154 broad.mit.edu 37 12 94580196 94580196 + Silent SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr12:94580196G>T ENST00000258526.4 + 4 1635 c.1386G>T c.(1384-1386)tcG>tcT p.S462S NM_005761.2 NP_005752.1 O60486 PLXC1_HUMAN plexin C1 462 axon guidance|cell adhesion integral to membrane|intracellular|plasma membrane receptor activity|receptor binding breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 AATCCTGTTCGGAGTGTTTAA 0.418000 18 31 2.39187e-15 3.32503e-15 1 1 0 PPARGC1B 133522 broad.mit.edu 37 5 149212401 149212401 + Silent SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr5:149212401G>T ENST00000309241.5 + 5 797 c.765G>T c.(763-765)ccG>ccT p.P255P PPARGC1B_ENST00000360453.4_Silent_p.P216P|PPARGC1B_ENST00000403750.1_Silent_p.P191P|PPARGC1B_ENST00000394320.3_Silent_p.P255P NM_133263.3 NP_573570.3 Q86YN6 PRGC2_HUMAN peroxisome proliferator-activated receptor gamma, coactivator 1 beta 255 estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter mediator complex AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1) 30 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) AGGACTGCCCGAGCCCCCAGC 0.697000 21 37 4.35082e-09 5.30662e-09 1 1 0 RAB8A 4218 broad.mit.edu 37 19 16238893 16238893 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:16238893G>T ENST00000300935.3 + 6 745 c.472G>T c.(472-474)Gtg>Ttg p.V158L CTD-2231E14.8_ENST00000597983.1_RNA|RAB8A_ENST00000586682.1_Missense_Mutation_p.V158L NM_005370.4 NP_005361.2 P61006 RAB8A_HUMAN RAB8A, member RAS oncogene family 158 cilium assembly|Golgi vesicle fusion to target membrane|protein transport|small GTPase mediated signal transduction|vesicle docking involved in exocytosis Golgi apparatus|nonmotile primary cilium|perinuclear region of cytoplasm|plasma membrane GTP binding|protein binding endometrium(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1) 8 CAACATCAATGTGGAAAATGT 0.627000 12 39 4.93089e-13 6.5405e-13 1 1 0 IGLV4-60 28785 broad.mit.edu 37 22 22516909 22516909 + RNA SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr22:22516909G>T ENST00000390284.2 + 0 197 AAGGCCCCTCGGTACTTGATG 0.587000 12 46 4.84862e-15 6.7091e-15 1 1 0 IRX2 153572 broad.mit.edu 37 5 2749778 2749778 + Missense_Mutation SNP C C G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr5:2749778C>G ENST00000382611.6 - 2 621 c.373G>C c.(373-375)Gcc>Ccc p.A125P IRX2_ENST00000502957.1_5'UTR|IRX2_ENST00000302057.5_Missense_Mutation_p.A125P NM_001134222.1 NP_001127694.1 Q9BZI1 IRX2_HUMAN iroquois homeobox 2 125 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2) 26 GBM - Glioblastoma multiforme(108;0.204) GTGGCCGTGGCGTCCCGCGTG 0.647000 25 225 0 0 1 0 0 LRRC37B 114659 broad.mit.edu 37 17 30348928 30348928 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr17:30348928G>T ENST00000327564.7 + 1 905 c.844G>T c.(844-846)Gtt>Ttt p.V282F LRRC37B_ENST00000543378.2_Missense_Mutation_p.V173F|LRRC37B_ENST00000394713.3_Missense_Mutation_p.V255F|LRRC37B_ENST00000341671.7_Missense_Mutation_p.V255F|LRRC37B_ENST00000584368.1_Missense_Mutation_p.V267F Q96QE4 LR37B_HUMAN leucine rich repeat containing 37B 255 integral to membrane endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 29 Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244) TCCTGAGCAAGTTGGACTTTC 0.517000 52 148 4.6707e-30 7.30061e-30 1 1 0 ZSWIM2 151112 broad.mit.edu 37 2 187703804 187703804 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr2:187703804C>T ENST00000295131.2 - 4 415 c.376G>A c.(376-378)Gaa>Aaa p.E126K NM_182521.2 NP_872327.2 Q8NEG5 ZSWM2_HUMAN zinc finger, SWIM-type containing 2 126 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) TGTTCATTTTCGTCATTTGTT 0.403000 51 141 0 0 1 0 0 SCUBE1 80274 broad.mit.edu 37 22 43634903 43634903 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr22:43634903C>A ENST00000360835.3 - 7 911 c.785G>T c.(784-786)gGc>gTc p.G262V Z82214.2_ENST00000419643.1_RNA|SCUBE1_ENST00000290460.7_Missense_Mutation_p.G292V NM_173050.3 NP_766638.2 Q8IWY4 SCUB1_HUMAN signal peptide, CUB domain, EGF-like 1 262 EGF-like 5 (Potential).|EGF-like 6 (Potential). adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization external side of plasma membrane|extracellular space|extrinsic to plasma membrane calcium ion binding|identical protein binding|protein heterodimerization activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_neural(38;0.0414)|Ovarian(80;0.07) GCATCGCACGCCAGTGGCTGT 0.597000 6 22 0.0293803 0.0299002 1 1 0 BICD1 636 broad.mit.edu 37 12 32481177 32481177 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr12:32481177G>T ENST00000548411.1 + 5 1969 c.1788G>T c.(1786-1788)aaG>aaT p.K596N BICD1_ENST00000281474.5_Missense_Mutation_p.K596N NM_001003398.1 NP_001003398.1 Q96G01 BICD1_HUMAN bicaudal D homolog 1 (Drosophila) 596 anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204) OV - Ovarian serous cystadenocarcinoma(6;0.0201) GTCCAACTAAGACCCCCACAA 0.483000 35 64 6.90743e-12 8.9973e-12 1 1 0 PCDHB7 56129 broad.mit.edu 37 5 140554737 140554737 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr5:140554737C>A ENST00000231137.3 + 1 2495 c.2321C>A c.(2320-2322)cCc>cAc p.P774H NM_018940.2 NP_061763.1 Q9Y5E2 PCDB7_HUMAN 774 calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AACCTGCTACCCCAGAGCACA 0.468000 15 105 3.41278e-10 4.29085e-10 1 1 0 CHST13 166012 broad.mit.edu 37 3 126260990 126260990 + Missense_Mutation SNP C C G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr3:126260990C>G ENST00000319340.2 + 3 645 c.595C>G c.(595-597)Cgc>Ggc p.R199G NM_152889.2 NP_690849.1 Q8NET6 CHSTD_HUMAN carbohydrate (chondroitin 4) sulfotransferase 13 199 chondroitin sulfate biosynthetic process Golgi membrane|integral to membrane chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity central_nervous_system(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 11 GBM - Glioblastoma multiforme(114;0.151) CTTCCAGAGGCGCTACGGTGC 0.721000 3 6 0 0 1 0 0 HCN4 10021 broad.mit.edu 37 15 73617764 73617764 + Missense_Mutation SNP T T A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr15:73617764T>A ENST00000261917.3 - 5 2605 c.1612A>T c.(1612-1614)Atg>Ttg p.M538L NM_005477.2 NP_005468.1 Q9Y3Q4 HCN4_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 4 538 blood circulation|muscle contraction integral to membrane cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 55 COAD - Colon adenocarcinoma(1;0.142) TGAAAGGACATGTACTGCTCC 0.657000 44 127 0 0 1 0 0 FAM35A 54537 broad.mit.edu 37 10 88911830 88911830 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr10:88911830C>A ENST00000298786.4 + 3 833 c.719C>A c.(718-720)aCa>aAa p.T240K FAM35A_ENST00000298784.1_Missense_Mutation_p.T240K Q86V20 FA35A_HUMAN family with sequence similarity 35, member A 240 p.T240K(2) endometrium(2)|kidney(2)|large_intestine(5)|lung(1)|ovary(2)|prostate(2)|skin(2) 16 TCAACTGATACAGAATTTCTC 0.388000 4 52 0.150653 0.15194 1 1 0 UPK1A 11045 broad.mit.edu 37 19 36164163 36164163 + Silent SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:36164163C>A ENST00000222275.2 + 3 315 c.315C>A c.(313-315)atC>atA p.I105I UPK1A-AS1_ENST00000443196.1_RNA|UPK1A_ENST00000379013.2_Silent_p.I105I NM_007000.2 NP_008931.1 O00322 UPK1A_HUMAN uroplakin 1A 105 epithelial cell differentiation|protein oligomerization endoplasmic reticulum|integral to membrane monosaccharide binding|protein homodimerization activity breast(1)|large_intestine(4)|lung(2)|stomach(2) 9 all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) TCGTCTACATCTTCGAGTGCG 0.662000 44 102 5.57489e-27 8.59415e-27 1 1 0 BIN1 274 broad.mit.edu 37 2 127819726 127819726 + Silent SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr2:127819726G>A ENST00000316724.5 - 10 1233 c.822C>T c.(820-822)caC>caT p.H274H BIN1_ENST00000352848.3_Silent_p.H243H|BIN1_ENST00000351659.3_Silent_p.H274H|BIN1_ENST00000348750.4_Silent_p.H243H|BIN1_ENST00000376113.2_Silent_p.H243H|BIN1_ENST00000393040.3_Silent_p.H243H|BIN1_ENST00000466111.1_5'UTR|BIN1_ENST00000357970.3_Silent_p.H274H|BIN1_ENST00000393041.3_Silent_p.H243H|BIN1_ENST00000409400.1_Silent_p.H243H|BIN1_ENST00000259238.4_Silent_p.H243H|BIN1_ENST00000346226.3_Silent_p.H243H NM_139343.2 NP_647593.1 O00499 BIN1_HUMAN bridging integrator 1 274 BAR. cell proliferation|endocytosis|interspecies interaction between organisms|multicellular organismal development actin cytoskeleton|nucleus NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3) 24 Colorectal(110;0.0831) BRCA - Breast invasive adenocarcinoma(221;0.073) TGTTGCTCCCGTGTTGCTTCT 0.657000 6 9 0 0 1 0 0 XIRP2 129446 broad.mit.edu 37 2 168105180 168105180 + Missense_Mutation SNP A A C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr2:168105180A>C ENST00000409195.1 + 9 7367 c.7278A>C c.(7276-7278)aaA>aaC p.K2426N XIRP2_ENST00000295237.9_Missense_Mutation_p.K2426N|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.K2204N|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 2251 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 CATTGCCCAAACCCAAACTTC 0.408000 19 142 0 0 1 0 0 C22orf29 79680 broad.mit.edu 37 22 19839606 19839606 + Missense_Mutation SNP G G A rs143706825 byFrequency TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr22:19839606G>A ENST00000405640.1 - 2 847 c.179C>T c.(178-180)aCg>aTg p.T60M GNB1L_ENST00000403325.1_Intron|C22orf29_ENST00000328554.4_Missense_Mutation_p.T60M|GNB1L_ENST00000405009.1_Intron|C22orf29_ENST00000484072.1_Intron|C22orf29_ENST00000407472.1_Missense_Mutation_p.T60M|GNB1L_ENST00000460402.1_Intron|GNB1L_ENST00000329517.6_Intron Q7L3V2 CV029_HUMAN chromosome 22 open reading frame 29 60 NS(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1) 7 Colorectal(54;0.0993) CTCCATGGTCGTTCGCACACA 0.627000 15 126 0 0 1 0 0 XIRP2 129446 broad.mit.edu 37 2 168105801 168105801 + Silent SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr2:168105801G>T ENST00000409195.1 + 9 7988 c.7899G>T c.(7897-7899)tcG>tcT p.S2633S XIRP2_ENST00000295237.9_Silent_p.S2633S|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Silent_p.S2411S|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 2458 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 CCACAACATCGCCAGAAACAG 0.443000 33 69 9.04072e-19 1.31251e-18 1 1 0 PLXDC1 57125 broad.mit.edu 37 17 37265552 37265552 + Silent SNP C C G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr17:37265552C>G ENST00000315392.4 - 3 559 c.348G>C c.(346-348)cgG>cgC p.R116R PLXDC1_ENST00000539608.1_Silent_p.R43R|PLXDC1_ENST00000493200.1_5'UTR|PLXDC1_ENST00000444911.2_Silent_p.R76R|PLXDC1_ENST00000394316.2_Silent_p.R116R NM_020405.4 NP_065138.2 Q8IUK5 PXDC1_HUMAN plexin domain containing 1 116 angiogenesis cytoplasm|extracellular region|integral to membrane|tight junction kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 23 TCACTTGGCTCCGGTTGGCCT 0.637000 10 20 0 0 1 0 0 OR2M2 391194 broad.mit.edu 37 1 248343921 248343921 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:248343921G>T ENST00000359682.2 + 1 634 c.634G>T c.(634-636)Gca>Tca p.A212S NM_001004688.1 NP_001004688.1 Q96R28 OR2M2_HUMAN olfactory receptor, family 2, subfamily M, member 2 212 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3) 70 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) TTTCCCTGTTGCAATCATCAT 0.428000 64 211 1.48005e-37 2.36956e-37 1 1 0 SEC22B 9554 broad.mit.edu 37 1 145116041 145116041 + RNA SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:145116041G>T ENST00000453618.1 + 0 1127 O75396 SC22B_HUMAN SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene) ER to Golgi vesicle-mediated transport|protein transport endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome protein binding GAAAATGAAAGGTTGCACCTC 0.413000 4 20 0.00909568 0.00937143 1 1 0 STOML1 9399 broad.mit.edu 37 15 74284505 74284505 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr15:74284505C>A ENST00000316900.5 - 1 184 c.60G>T c.(58-60)caG>caT p.Q20H STOML1_ENST00000564777.1_Missense_Mutation_p.Q20H|STOML1_ENST00000561656.1_Intron|STOML1_ENST00000359750.4_Missense_Mutation_p.Q20H|STOML1_ENST00000541638.1_5'UTR|STOML1_ENST00000316911.6_Missense_Mutation_p.Q20H NM_001256672.1|NM_001256675.1|NM_001256677.1|NM_004809.4 NP_001243601.1|NP_001243604.1|NP_001243606.1|NP_004800.2 Q9UBI4 STML1_HUMAN stomatin (EPB72)-like 1 20 integral to membrane sterol binding endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1) 8 CGAAGCTCGACTGCTGGAAGC 0.716000 10 28 2.17888e-05 2.41344e-05 1 1 0 TMTC1 83857 broad.mit.edu 37 12 29786207 29786207 + Missense_Mutation SNP A A T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr12:29786207A>T ENST00000256062.5 - 6 1150 c.677T>A c.(676-678)cTg>cAg p.L226Q TMTC1_ENST00000552618.1_Missense_Mutation_p.L396Q|TMTC1_ENST00000381224.2_Missense_Mutation_p.L288Q|TMTC1_ENST00000539277.1_Missense_Mutation_p.L334Q|TMTC1_ENST00000319685.8_5'UTR|TMTC1_ENST00000551659.1_Missense_Mutation_p.L396Q NM_175861.3 NP_787057.2 Q8IUR5 TMTC1_HUMAN transmembrane and tetratricopeptide repeat containing 1 334 integral to membrane binding breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032) GTCATAGCACAGGGTCACGGG 0.493000 8 92 0 0 1 0 0 SPINK14 408187 broad.mit.edu 37 5 147549355 147549355 + Silent SNP A A G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr5:147549355A>G ENST00000356972.1 + 1 60 c.60A>G c.(58-60)ttA>ttG p.L20L SPINK14_ENST00000562793.1_Silent_p.L20L NM_001001325.1 NP_001001325.1 Q6IE38 ISK14_HUMAN serine peptidase inhibitor, Kazal type 14 (putative) 20 extracellular region serine-type endopeptidase inhibitor activity breast(1)|large_intestine(1)|lung(1) 3 ATTTGGTGTTATCTTCTGGTG 0.373000 13 6 0 0 1 0 0 SLC22A2 6582 broad.mit.edu 37 6 160666477 160666477 + Missense_Mutation SNP T T C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr6:160666477T>C ENST00000366952.1 - 8 2476 c.995A>G c.(994-996)tAc>tGc p.Y332C SLC22A2_ENST00000491092.1_5'UTR|SLC22A2_ENST00000366953.3_Missense_Mutation_p.Y353C O15244 S22A2_HUMAN solute carrier family 22 (organic cation transporter), member 2 353 body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion integral to plasma membrane|membrane fraction neurotransmitter transporter activity|organic cation transmembrane transporter activity breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1) 27 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06) TTACCAGTTGTACATCAATAT 0.388000 5 19 0 0 1 0 0 CLPTM1L 81037 broad.mit.edu 37 5 1318499 1318499 + Silent SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr5:1318499C>T ENST00000320895.5 - 17 1859 c.1602G>A c.(1600-1602)gcG>gcA p.A534A CLPTM1L_ENST00000507807.1_Silent_p.A365A|CLPTM1L_ENST00000320927.6_Silent_p.A498A|CLPTM1L_ENST00000506641.1_5'UTR NM_030782.3 NP_110409.2 Q96KA5 CLP1L_HUMAN CLPTM1-like 534 apoptosis integral to membrane p.A534A(1) breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 24 Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09) Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181) KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208) CCGTGTGGGGCGCCCGCGTGG 0.522000 13 171 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 215848285 215848285 + Missense_Mutation SNP A A C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:215848285A>C ENST00000366943.2 - 63 13354 c.12968T>G c.(12967-12969)cTt>cGt p.L4323R USH2A_ENST00000307340.3_Missense_Mutation_p.L4323R O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 4323 Fibronectin type-III 28. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) AAAAGGAAGAAGCTCTTCATC 0.458000 HNSCC(13;0.011) 7 111 0 0 1 0 0 OR13C8 138802 broad.mit.edu 37 9 107331771 107331771 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr9:107331771G>T ENST00000335040.1 + 1 323 c.323G>T c.(322-324)gGg>gTg p.G108V NM_001004483.1 NP_001004483.1 Q8NGS7 O13C8_HUMAN olfactory receptor, family 13, subfamily C, member 8 108 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1) 25 TTTGCCATGGGGGCCACGGAG 0.493000 34 84 4.3181e-19 6.29746e-19 1 1 0 NLGN4X 57502 broad.mit.edu 37 X 5821336 5821336 + Silent SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chrX:5821336C>T ENST00000381095.3 - 5 2010 c.1383G>A c.(1381-1383)gcG>gcA p.A461A NLGN4X_ENST00000275857.6_Silent_p.A461A|NLGN4X_ENST00000538097.1_Silent_p.A461A|NLGN4X_ENST00000381093.2_Silent_p.A481A|NLGN4X_ENST00000381092.1_Silent_p.A461A NM_181332.1 NP_851849.1 Q8N0W4 NLGNX_HUMAN neuroligin 4, X-linked 461 brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior cell surface|dendrite|integral to plasma membrane|synapse chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 81 AGCCGTACTGCGCGTGCAGGT 0.617000 11 48 0 0 1 0 0 GABRQ 55879 broad.mit.edu 37 X 151815582 151815582 + Missense_Mutation SNP T T A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chrX:151815582T>A ENST00000370306.2 + 4 500 c.480T>A c.(478-480)aaT>aaA p.N160K NM_018558.2 NP_061028.2 Q9UN88 GBRT_HUMAN gamma-aminobutyric acid (GABA) A receptor, theta 160 cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 52 Acute lymphoblastic leukemia(192;6.56e-05) CTGTGGAGAATCGCGTGTTTC 0.542000 24 41 0 0 1 0 0 OR4L1 122742 broad.mit.edu 37 14 20528383 20528383 + Nonsense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr14:20528383C>A ENST00000315683.1 + 1 180 c.180C>A c.(178-180)taC>taA p.Y60* NM_001004717.1 NP_001004717.1 Q8NH43 OR4L1_HUMAN olfactory receptor, family 4, subfamily L, member 1 60 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 all_cancers(95;0.00108) Epithelial(56;4.65e-07)|all cancers(55;2.9e-06) GBM - Glioblastoma multiforme(265;0.0064) CTCCCTTGTACTTTCTCCTTG 0.438000 42 83 2.95478e-19 4.31482e-19 1 1 0 NDC1 55706 broad.mit.edu 37 1 54266523 54266523 + Splice_Site SNP T T A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:54266523T>A ENST00000371429.3 - 11 1665 c.e11-2 NDC1_ENST00000234725.8_Splice_Site|NDC1_ENST00000537333.1_Splice_Site|NDC1_ENST00000540001.1_Splice_Site NM_001168551.1|NM_018087.4 NP_001162023.1|NP_060557.3 NDC1 transmembrane nucleoporin GATGTCCACCTAGGAGGTCCA 0.393000 9 41 0 0 1 0 0 LILRB1 10859 broad.mit.edu 37 19 55144177 55144177 + Silent SNP G G C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:55144177G>C ENST00000396331.1 + 7 1281 c.924G>C c.(922-924)tcG>tcC p.S308S LILRB1_ENST00000396321.2_Silent_p.S308S|LILRB1_ENST00000418536.2_Silent_p.S308S|LILRB1_ENST00000434867.2_Silent_p.S308S|LILRB1_ENST00000324602.7_Silent_p.S308S|LILRB1_ENST00000427581.2_Silent_p.S344S|LILRB1_ENST00000396327.3_Silent_p.S308S|LILRB1_ENST00000396315.1_Silent_p.S308S|LILRB1_ENST00000396317.1_Silent_p.S308S|LILRB1_ENST00000396332.4_Silent_p.S308S|LILRB1_ENST00000448689.1_Silent_p.S308S NM_006669.3 NP_006660.3 Q8NHL6 LIRB1_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 308 Ig-like C2-type 3. regulation of immune response|response to virus integral to membrane|plasma membrane protein phosphatase 1 binding|receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 74 GBM - Glioblastoma multiforme(193;0.0188) CCGAGTGGTCGGCCCCCAGCG 0.687000 HNSCC(37;0.09) 4 75 0 0 1 0 0 PRB3 5544 broad.mit.edu 37 12 11420916 11420916 + RNA SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr12:11420916G>T ENST00000381842.3 - 0 304 PRB3_ENST00000538488.1_RNA|PRB3_ENST00000440870.3_RNA|PRB3_ENST00000279573.6_RNA NM_006249.4 NP_006240.4 Q04118 PRB3_HUMAN proline-rich protein BstNI subfamily 3 extracellular region Gram-negative bacterial cell surface binding breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5) 25 OV - Ovarian serous cystadenocarcinoma(49;0.201) GGGGACCTTGGGACTGGTTTC 0.627000 65 215 5.89852e-23 8.92136e-23 1 1 0 BICD1 636 broad.mit.edu 37 12 32480435 32480435 + Missense_Mutation SNP A A T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr12:32480435A>T ENST00000548411.1 + 5 1227 c.1046A>T c.(1045-1047)gAg>gTg p.E349V BICD1_ENST00000281474.5_Missense_Mutation_p.E349V NM_001003398.1 NP_001003398.1 Q96G01 BICD1_HUMAN bicaudal D homolog 1 (Drosophila) 349 anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204) OV - Ovarian serous cystadenocarcinoma(6;0.0201) AACCTACAGGAGTCACAGACA 0.532000 22 58 0 0 1 0 0 FAM110C 642273 broad.mit.edu 37 2 45614 45614 + Missense_Mutation SNP T T C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr2:45614T>C ENST00000327669.4 - 1 771 c.772A>G c.(772-774)Agc>Ggc p.S258G NM_001077710.2 NP_001071178.2 Q1W6H9 F110C_HUMAN family with sequence similarity 110, member C 258 microtubule|microtubule organizing center|spindle pole central_nervous_system(1)|kidney(1)|lung(2) 4 all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.00221) all cancers(51;0.000815)|Epithelial(75;0.00379)|OV - Ovarian serous cystadenocarcinoma(76;0.0127)|GBM - Glioblastoma multiforme(21;0.232) GAGAAGCCGCTGCCGGAGGTG 0.692000 7 27 0 0 1 0 0 TMEM8A 58986 broad.mit.edu 37 16 424347 424347 + Missense_Mutation SNP C C A rs138827125 TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr16:424347C>A ENST00000431232.2 - 10 1789 c.1629G>T c.(1627-1629)caG>caT p.Q543H TMEM8A_ENST00000250930.3_Missense_Mutation_p.Q350H NM_021259.2 NP_067082.2 Q9HCN3 TMM8A_HUMAN transmembrane protein 8A 543 cell adhesion integral to plasma membrane central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1) 14 CCGCCCTCTGCTGGGCCACCG 0.667000 OREG0003702 type=REGULATORY REGION|Gene=TMEM8|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 17 51 1.96292e-10 2.47211e-10 1 1 0 TMC5 79838 broad.mit.edu 37 16 19477554 19477554 + Splice_Site SNP A A T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr16:19477554A>T ENST00000396229.2 + 9 2385 c.1637_splice c.e9+1 p.S546_splice TMC5_ENST00000561503.1_Splice_Site_p.S187_splice|TMC5_ENST00000542583.2_Splice_Site_p.S546_splice|TMC5_ENST00000541464.1_Splice_Site_p.S546_splice|TMC5_ENST00000381414.4_Splice_Site_p.S546_splice|TMC5_ENST00000219821.5_Splice_Site_p.S300_splice|TMC5_ENST00000564959.1_Splice_Site_p.S229_splice NM_001105248.1 NP_001098718.1 Q6UXY8 TMC5_HUMAN transmembrane channel-like 5 546 integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 31 TTTGCTGTTCAGGTATGGAAG 0.458000 20 23 0 0 1 0 0 HNF4A 3172 broad.mit.edu 37 20 43058239 43058239 + Silent SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr20:43058239C>T ENST00000316099.3 + 10 1448 c.1359C>T c.(1357-1359)gtC>gtT p.V453V HNF4A_ENST00000415691.1_Silent_p.V443V|HNF4A_ENST00000457232.1_Silent_p.V421V NM_000457.4|NM_001258355.1 NP_000448.3|NP_001245284.1 P41235 HNF4A_HUMAN hepatocyte nuclear factor 4, alpha 453 V -> I. blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process cytoplasm activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2) 34 Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) CGGGAGCCGTCGCCACAATCG 0.637000 15 210 0 0 1 0 0 ZAN 7455 broad.mit.edu 37 7 100363024 100363024 + RNA SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr7:100363024C>A ENST00000542585.1 + 0 4465 ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) CGAAGCCATGCCCTGACACCT 0.607000 22 29 5.35356e-11 6.83829e-11 1 1 0 ZGLP1 100125288 broad.mit.edu 37 19 10415842 10415842 + Silent SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:10415842C>A ENST00000403903.3 - 4 1939 c.741G>T c.(739-741)gtG>gtT p.V247V ZGLP1_ENST00000403352.1_Silent_p.V163V NM_001103167.1 NP_001096637.1 P0C6A0 ZGLP1_HUMAN zinc finger, GATA-like protein 1 247 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(2)|ovary(1) 6 TTTTCCTGGGCACCAGCCAGC 0.577000 24 48 4.4004e-07 5.11935e-07 1 1 0 RBPJL 11317 broad.mit.edu 37 20 43944827 43944827 + Splice_Site SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr20:43944827G>T ENST00000343694.3 + 10 1093 c.1020_splice c.e10-1 p.A341_splice RBPJL_ENST00000372743.1_Splice_Site_p.A341_splice|RBPJL_ENST00000464504.1_Intron|RBPJL_ENST00000372741.3_Splice_Site_p.A341_splice NM_014276.2 NP_055091.2 Q9UBG7 RBPJL_HUMAN recombination signal binding protein for immunoglobulin kappa J region-like 341 signal transduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Myeloproliferative disorder(115;0.0122) CTCCTCCCAGGCCTCTCCCTG 0.617000 29 63 8.4185e-14 1.1382e-13 1 1 0 DPP3 10072 broad.mit.edu 37 11 66262731 66262731 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:66262731G>T ENST00000532677.1 + 13 1902 c.1501G>T c.(1501-1503)Ggc>Tgc p.G501C DPP3_ENST00000531863.1_Missense_Mutation_p.G502C|DPP3_ENST00000530165.1_Missense_Mutation_p.G452C|DPP3_ENST00000453114.1_Missense_Mutation_p.G482C|DPP3_ENST00000360510.2_Missense_Mutation_p.G482C|DPP3_ENST00000541961.1_Missense_Mutation_p.G482C|DPP3_ENST00000533799.1_3'UTR NM_001256670.1|NM_005700.4|NM_130443.3 NP_001243599.1|NP_005691.2|NP_569710.2 Q9NY33 DPP3_HUMAN dipeptidyl-peptidase 3 482 proteolysis cytoplasm aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1) 23 CCCAGAGACGGGCGAGCAGGT 0.602000 40 121 6.99958e-10 8.71741e-10 1 1 0 TARBP1 6894 broad.mit.edu 37 1 234565839 234565839 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:234565839C>A ENST00000040877.1 - 15 2602 c.2603G>T c.(2602-2604)tGc>tTc p.C868F NM_005646.3 NP_005637.3 Q13395 TARB1_HUMAN TAR (HIV-1) RNA binding protein 1 868 regulation of transcription from RNA polymerase II promoter|RNA processing nucleus RNA binding|RNA methyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4) 55 Ovarian(103;0.0339) all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172) OV - Ovarian serous cystadenocarcinoma(106;0.000263) GTACCTGCTGCACTCCAAGGG 0.483000 331 367 6.51587e-154 1.06524e-153 1 1 0 TTN 7273 broad.mit.edu 37 2 179481642 179481642 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr2:179481642G>A ENST00000589042.1 - 256 48198 c.47974C>T c.(47974-47976)Cca>Tca p.P15992S TTN_ENST00000591111.1_Missense_Mutation_p.P14351S|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P7052S|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P7119S|TTN_ENST00000342992.6_Missense_Mutation_p.P13424S|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA|RP11-171I2.4_ENST00000605334.1_lincRNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P6927S NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 14351 Fibronectin type-III 16. 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) GTTGCAGTTGGCCTTGGATAG 0.438000 52 96 0 0 1 0 0 BZRAP1 9256 broad.mit.edu 37 17 56389623 56389623 + Silent SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr17:56389623C>T ENST00000355701.3 - 17 3429 c.2559G>A c.(2557-2559)ggG>ggA p.G853G BZRAP1_ENST00000268893.6_Silent_p.G793G|BZRAP1_ENST00000343736.4_Silent_p.G853G NM_001261835.1|NM_004758.3 NP_001248764.1|NP_004749.2 O95153 RIMB1_HUMAN benzodiazapine receptor (peripheral) associated protein 1 853 Fibronectin type-III 1. mitochondrion benzodiazepine receptor binding cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Medulloblastoma(34;0.127)|all_neural(34;0.237) TGTGAAGGGGCCCGGCCCACA 0.682000 13 40 0 0 1 0 0 BIRC8 112401 broad.mit.edu 37 19 53793438 53793438 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:53793438G>T ENST00000426466.1 - 1 1437 c.190C>A c.(190-192)Cca>Aca p.P64T NM_033341.4 NP_203127.3 Q96P09 BIRC8_HUMAN baculoviral IAP repeat containing 8 64 apoptosis zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|urinary_tract(1) 19 GBM - Glioblastoma multiforme(134;0.00304) TTGCAACCTGGATACCATTTA 0.433000 23 58 4.72057e-08 5.63504e-08 1 1 0 MARVELD2 153562 broad.mit.edu 37 5 68728790 68728790 + Missense_Mutation SNP A A G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr5:68728790A>G ENST00000325631.5 + 5 1447 c.1373A>G c.(1372-1374)tAt>tGt p.Y458C MARVELD2_ENST00000413223.2_Missense_Mutation_p.Y342C NM_001038603.2|NM_001244734.1 NP_001033692.2|NP_001231663.1 Q8N4S9 MALD2_HUMAN MARVEL domain containing 2 458 sensory perception of sound integral to membrane|tight junction NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(4)|skin(1)|urinary_tract(1) 15 Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16) OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183) CGAGAACGCTATAAAGCTGTG 0.423000 40 47 0 0 1 0 0 SOBP 55084 broad.mit.edu 37 6 107955764 107955764 + Silent SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr6:107955764G>T ENST00000317357.5 + 6 2375 c.1716G>T c.(1714-1716)gcG>gcT p.A572A NM_018013.3 NP_060483.3 A7XYQ1 SOBP_HUMAN sine oculis binding protein homolog (Drosophila) 572 metal ion binding endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 26 all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156) BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154) ACTCCGCGGCGGCGGGCGGCA 0.706000 9 15 7.48243e-07 8.66895e-07 1 1 0 COL4A5 1287 broad.mit.edu 37 X 107939561 107939561 + Silent SNP T T C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chrX:107939561T>C ENST00000328300.6 + 53 5273 c.5029T>C c.(5029-5031)Ttg>Ctg p.L1677L COL4A5_ENST00000361603.2_Silent_p.L1671L NM_033380.2 NP_203699.1 P29400 CO4A5_HUMAN collagen, type IV, alpha 5 1671 Collagen IV NC1. Missing (in APSX).|R -> P (in APSX).|R -> Q (in APSX). axon guidance collagen type IV extracellular matrix structural constituent|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 99 AGCAGGAGACTTGAGGACACG 0.338000 Alport syndrome with Diffuse Leiomyomatosis 33 50 0 0 1 0 0 IMPG1 3617 broad.mit.edu 37 6 76728498 76728498 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr6:76728498C>A ENST00000369950.3 - 7 933 c.744G>T c.(742-744)aaG>aaT p.K248N IMPG1_ENST00000369963.3_3'UTR NM_001563.2 NP_001554.2 Q17R60 IMPG1_HUMAN interphotoreceptor matrix proteoglycan 1 248 SEA 1. visual perception proteinaceous extracellular matrix extracellular matrix structural constituent|receptor activity p.K248K(1) breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222) CGAGCTCTGCCTTGAACTTCT 0.493000 26 40 3.28513e-13 4.36008e-13 1 1 0 OR8B12 219858 broad.mit.edu 37 11 124412852 124412852 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:124412852C>A ENST00000306842.2 - 1 723 c.699G>T c.(697-699)agG>agT p.R233S NM_001005195.1 NP_001005195.1 Q8NGG6 OR8BC_HUMAN olfactory receptor, family 8, subfamily B, member 12 233 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213) AGGCTTTGGACCTGCCTTCTG 0.448000 12 46 2.80697e-09 3.43296e-09 1 1 0 ADCY2 108 broad.mit.edu 37 5 7717281 7717281 + Missense_Mutation SNP A A T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr5:7717281A>T ENST00000338316.4 + 12 1723 c.1634A>T c.(1633-1635)cAa>cTa p.Q545L RP11-711G10.1_ENST00000514105.2_RNA|ADCY2_ENST00000537121.1_Missense_Mutation_p.Q365L NM_020546.2 NP_065433.2 Q08462 ADCY2_HUMAN adenylate cyclase 2 (brain) 545 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 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 ACCAAGTCACAAAAGAAGAGA 0.264000 13 144 0 0 1 0 0 AMFR 267 broad.mit.edu 37 16 56396849 56396849 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr16:56396849C>T ENST00000290649.5 - 14 2114 c.1904G>A c.(1903-1905)cGg>cAg p.R635Q NM_001144.5 NP_001135.3 Q9UKV5 AMFR2_HUMAN autocrine motility factor receptor, E3 ubiquitin protein ligase 635 endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein oligomerization|protein polyubiquitination integral to endoplasmic reticulum membrane|integral to membrane of membrane fraction protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 17 CTGAAGCCTCCGTTCCGCGGC 0.642000 6 27 0 0 1 0 0 ZNF208 7757 broad.mit.edu 37 19 22155794 22155794 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:22155794G>T ENST00000397126.4 - 4 2190 c.2042C>A c.(2041-2043)aCt>aAt p.T681N ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron NM_007153.3 NP_009084.2 zinc finger protein 208 breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 113 all_lung(12;0.0961)|Lung NSC(12;0.103) CTTATGTTTAGTAAGGATTGA 0.383000 24 58 1.42536e-11 1.84909e-11 1 1 0 EPHA2 1969 broad.mit.edu 37 1 16461536 16461536 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:16461536G>A ENST00000358432.5 - 7 1731 c.1577C>T c.(1576-1578)aCg>aTg p.T526M NM_004431.3 NP_004422.2 P29317 EPHA2_HUMAN EPH receptor A2 526 Fibronectin type-III 2. activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane ATP binding|ephrin receptor activity|protein binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 42 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649) Dasatinib(DB01254) CTCACACAGCGTCTGGAATTC 0.592000 32 286 0 0 1 0 0 LPPR4 9890 broad.mit.edu 37 1 99762379 99762379 + Missense_Mutation SNP G G C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:99762379G>C ENST00000370185.3 + 3 991 c.494G>C c.(493-495)gGc>gCc p.G165A LPPR4_ENST00000457765.1_Missense_Mutation_p.G165A NM_014839.4 NP_055654.2 Q7Z2D5 LPPR4_HUMAN 165 phosphatidate phosphatase activity p.G165>?(1) endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 72 all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202) Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22) AATGCTGGAGGCTGCAACTTC 0.418000 23 71 0 0 1 0 0 KRTAP5-2 440021 broad.mit.edu 37 11 1619313 1619313 + Silent SNP A A G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:1619313A>G ENST00000412090.1 - 1 211 c.168T>C c.(166-168)tgT>tgC p.C56C KRTAP5-AS1_ENST00000424148.1_RNA NM_001004325.1 NP_001004325.1 Q701N4 KRA52_HUMAN keratin associated protein 5-2 56 keratin filament large_intestine(1)|lung(2)|skin(1) 4 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) CAGGCACATAACATCTGGAGC 0.677000 68 176 0 0 1 0 0 GPR161 23432 broad.mit.edu 37 1 168065871 168065871 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:168065871C>A ENST00000367838.1 - 5 1287 c.974G>T c.(973-975)gGa>gTa p.G325V GPR161_ENST00000367835.1_Missense_Mutation_p.G325V|GPR161_ENST00000546300.1_Missense_Mutation_p.G211V|GPR161_ENST00000367836.1_Missense_Mutation_p.G193V|GPR161_ENST00000537209.1_Missense_Mutation_p.G345V|GPR161_ENST00000271357.5_Missense_Mutation_p.G325V|GPR161_ENST00000539777.1_Missense_Mutation_p.G247V|GPR161_ENST00000361697.2_Missense_Mutation_p.G325V NM_001267611.1|NM_153832.2 NP_001254540.1|NP_722561.1 Q8N6U8 GP161_HUMAN G protein-coupled receptor 161 325 multicellular organismal development integral to membrane|plasma membrane G-protein coupled receptor activity breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1) 26 all_hematologic(923;0.215) GTTCCAGAGTCCATAGATCAG 0.572000 24 91 2.27525e-19 3.33337e-19 1 1 0 APEX2 27301 broad.mit.edu 37 X 55033387 55033387 + Missense_Mutation SNP A A G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chrX:55033387A>G ENST00000374987.3 + 6 1142 c.1076A>G c.(1075-1077)cAc>cGc p.H359R NM_014481.2 NP_055296.2 Q9UBZ4 APEX2_HUMAN APEX nuclease (apurinic/apyrimidinic endonuclease) 2 359 cell cycle|DNA recombination|DNA repair nucleus DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|endonuclease activity|exonuclease activity|zinc ion binding breast(1)|endometrium(8)|large_intestine(4)|lung(6)|prostate(1)|urinary_tract(1) 21 ACGCTGCAGCACAACAATCAA 0.552000 Other BER factors 16 27 0 0 1 0 0 TRMT2B 79979 broad.mit.edu 37 X 100292970 100292970 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chrX:100292970C>A ENST00000372936.3 - 5 1146 c.374G>T c.(373-375)aGt>aTt p.S125I TRMT2B_ENST00000545398.1_Missense_Mutation_p.S125I|TRMT2B_ENST00000372931.5_Missense_Mutation_p.S125I|TRMT2B_ENST00000338687.7_Intron|TRMT2B_ENST00000478422.1_5'UTR|TRMT2B_ENST00000372939.1_Intron|TRMT2B_ENST00000372935.1_Missense_Mutation_p.S125I NM_024917.5 NP_079193.2 Q96GJ1 TRM2_HUMAN tRNA methyltransferase 2 homolog B (S. cerevisiae) 125 tRNA (uracil-5-)-methyltransferase activity breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 24 CGTTGTCACACTGACTCCATT 0.408000 153 276 1.9816e-69 3.23018e-69 1 1 0 BRAF 673 broad.mit.edu 37 7 140549911 140549911 + Splice_Site SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr7:140549911C>A ENST00000288602.6 - 2 300 c.240_splice c.e2+1 p.E80_splice NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 80 activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) AAAAGCTTACCTCCAGATATA 0.318000 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 15 109 1.5739e-10 1.99337e-10 1 1 0 RYR2 6262 broad.mit.edu 37 1 237868518 237868518 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:237868518G>T ENST00000366574.2 + 67 9772 c.9455G>T c.(9454-9456)cGt>cTt p.R3152L RYR2_ENST00000360064.6_Missense_Mutation_p.R3150L|RYR2_ENST00000542537.1_Missense_Mutation_p.R3136L NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 3152 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 p.R3150L(1) 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) TATAGGCAACGTTCTGCATTA 0.338000 6 12 1.12685e-05 1.25998e-05 1 1 0 GPR158 57512 broad.mit.edu 37 10 25887286 25887286 + Nonsense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr10:25887286G>T ENST00000376351.3 + 11 3090 c.2731G>T c.(2731-2733)Gag>Tag p.E911* GPR158_ENST00000490549.1_3'UTR NM_020752.2 NP_065803.2 Q5T848 GP158_HUMAN G protein-coupled receptor 158 911 integral to membrane|plasma membrane G-protein coupled receptor activity breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 119 AAGCGCCAAGGAGAAGACTCT 0.468000 65 147 7.59065e-32 1.19731e-31 1 1 0 SLC9A2 6549 broad.mit.edu 37 2 103324878 103324878 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr2:103324878C>A ENST00000233969.2 + 12 2511 c.2369C>A c.(2368-2370)cCa>cAa p.P790Q NM_003048.3 NP_003039.2 Q9UBY0 SL9A2_HUMAN solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2 790 integral to membrane|plasma membrane sodium:hydrogen antiporter activity breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 CCCAAGCCGCCACCACGGCTG 0.567000 25 102 4.74835e-14 6.45488e-14 1 1 0 KRTAP17-1 83902 broad.mit.edu 37 17 39471688 39471688 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr17:39471688C>T ENST00000334202.3 - 1 259 c.215G>A c.(214-216)gGg>gAg p.G72E NM_031964.1 NP_114170.1 Q9BYP8 KR171_HUMAN keratin associated protein 17-1 72 intermediate filament haematopoietic_and_lymphoid_tissue(1)|large_intestine(1) 2 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000449) gcagccacccccgcagcctcc 0.677000 11 17 0 0 1 0 0 SS18 6760 broad.mit.edu 37 18 23637672 23637672 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr18:23637672C>A ENST00000415083.2 - 4 321 c.266G>T c.(265-267)gGg>gTg p.G89V SS18_ENST00000545952.1_Missense_Mutation_p.G37V|SS18_ENST00000542743.1_Missense_Mutation_p.G37V|SS18_ENST00000542420.2_Missense_Mutation_p.G66V|SS18_ENST00000269137.7_Missense_Mutation_p.G89V|SS18_ENST00000585241.1_5'UTR|SS18_ENST00000539849.1_Missense_Mutation_p.G7V NM_001007559.1|NM_005637.2 NP_001007560.1|NP_005628.2 Q15532 SSXT_HUMAN synovial sarcoma translocation, chromosome 18 89 Transcriptional activation. positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus ligand-dependent nuclear receptor transcription coactivator activity|protein binding SS18/SSX2(706)|SS18/SSX1(1169)|SS18/SSX4(12) endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(1) 19 all_cancers(21;0.000194)|Lung NSC(5;0.000413)|all_lung(6;0.00118)|Ovarian(20;0.124) CTGATTCATCCCTCCAGGACC 0.502000 T """SSX1, SSX2""" synovial sarcoma 17 97 1.28384e-07 1.51561e-07 1 1 0 ZNF528 84436 broad.mit.edu 37 19 52918959 52918959 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:52918959C>T ENST00000360465.3 + 7 1280 c.854C>T c.(853-855)gCa>gTa p.A285V ZNF528_ENST00000391788.2_3'UTR NM_032423.2 NP_115799.2 Q3MIS6 ZN528_HUMAN zinc finger protein 528 285 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 39 GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817) TCAAAGCTTGCACAACATCAA 0.368000 20 94 0 0 1 0 0 TTC7A 57217 broad.mit.edu 37 2 47300958 47300958 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr2:47300958G>A ENST00000319190.5 + 20 2841 c.2473G>A c.(2473-2475)Gcc>Acc p.A825T TTC7A_ENST00000394850.2_Missense_Mutation_p.A849T|CALM2_ENST00000422269.1_Intron|TTC7A_ENST00000409245.1_Missense_Mutation_p.A791T|TTC7A_ENST00000263737.6_Missense_Mutation_p.A471T NM_020458.2 NP_065191.2 Q9ULT0 TTC7A_HUMAN tetratricopeptide repeat domain 7A 825 binding breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18) Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114) GGTGCTGCAGGCCCAGGGCCA 0.657000 11 70 0 0 1 0 0 ABCB5 340273 broad.mit.edu 37 7 20784879 20784879 + Nonsense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr7:20784879G>T ENST00000404938.2 + 26 3899 c.3247G>T c.(3247-3249)Gaa>Taa p.E1083* ABCB5_ENST00000258738.6_Nonsense_Mutation_p.E638* NM_001163941.1 NP_001157413.1 Q2M3G0 ABCB5_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 5 638 regulation of membrane potential apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity p.?(1) breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1) 77 GGATGCAAAAGAATTGAATGT 0.433000 28 49 7.26314e-15 1.0013e-14 1 1 0 SLC24A5 283652 broad.mit.edu 37 15 48426734 48426734 + Splice_Site SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr15:48426734C>T ENST00000341459.3 + 4 561 c.489_splice c.e4+1 p.T163_splice SLC24A5_ENST00000449382.2_Splice_Site_p.T103_splice NM_205850.2 NP_995322.1 Q71RS6 NCKX5_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 5 163 response to stimulus integral to membrane|melanosome|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|skin(1)|upper_aerodigestive_tract(1) 27 all_lung(180;0.00217) all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07) CTATCTAATACGGTATGTAAC 0.373000 7 36 0 0 1 0 0 BHMT2 23743 broad.mit.edu 37 5 78378654 78378654 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr5:78378654C>T ENST00000255192.3 + 5 539 c.473C>T c.(472-474)gCt>gTt p.A158V DMGDH_ENST00000520388.1_Intron|BHMT2_ENST00000521567.1_Missense_Mutation_p.A94V NM_017614.4 NP_060084.2 Q9H2M3 BHMT2_HUMAN betaine--homocysteine S-methyltransferase 2 158 Hcy-binding. methionine biosynthetic process cytoplasm betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding endometrium(2)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|urinary_tract(1) 15 all_lung(232;0.00063)|Lung NSC(167;0.00171)|Ovarian(174;0.0261)|Prostate(461;0.191) OV - Ovarian serous cystadenocarcinoma(54;2.09e-45)|Epithelial(54;9.3e-41)|all cancers(79;4.09e-36) L-Methionine(DB00134) GTTGAAGAAGCTGTGTGGGCT 0.418000 43 45 0 0 1 0 0 SEMA6C 10500 broad.mit.edu 37 1 151107298 151107298 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:151107298C>T ENST00000341697.3 - 16 3325 c.1634G>A c.(1633-1635)tGt>tAt p.C545Y Q9H3T2 SEM6C_HUMAN sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C 545 integral to membrane receptor activity central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 28 Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) GATATCCACACAGCCCCTGGA 0.532000 7 76 0 0 1 0 0 PTPRU 10076 broad.mit.edu 37 1 29638197 29638197 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:29638197G>A ENST00000356870.3 + 22 3126 c.3016G>A c.(3016-3018)Ggg>Agg p.G1006R PTPRU_ENST00000415600.2_3'UTR|PTPRU_ENST00000323874.8_Missense_Mutation_p.G1006R|PTPRU_ENST00000345512.3_Missense_Mutation_p.G1010R|PTPRU_ENST00000373779.3_Missense_Mutation_p.G1000R|PTPRU_ENST00000428026.2_Missense_Mutation_p.G997R|PTPRU_ENST00000460170.2_Missense_Mutation_p.G1006R NM_133177.3 NP_573438.3 Q92729 PTPRU_HUMAN protein tyrosine phosphatase, receptor type, U 1010 Tyrosine-protein phosphatase 1. canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway cell-cell junction|integral to plasma membrane beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity p.G1006W(2)|p.G1010W(1) breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 79 Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123) Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871) AGACACCTACGGGGACATCAA 0.602000 47 117 0 0 1 0 0 LRRN2 10446 broad.mit.edu 37 1 204587571 204587571 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:204587571G>T ENST00000367175.1 - 1 3762 c.1550C>A c.(1549-1551)gCt>gAt p.A517D LRRN2_ENST00000367176.3_Missense_Mutation_p.A517D|LRRN2_ENST00000367177.3_Missense_Mutation_p.A517D O75325 LRRN2_HUMAN leucine rich repeat neuronal 2 517 cell adhesion integral to membrane receptor activity central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 38 all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143) CTGGAGGAGAGCACGGCCCAC 0.627000 18 60 4.75885e-15 6.58895e-15 1 1 0 CMTR2 55783 broad.mit.edu 37 16 71318242 71318242 + Nonsense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr16:71318242C>A ENST00000338099.5 - 3 1918 c.1582G>T c.(1582-1584)Gga>Tga p.G528* FTSJD1_ENST00000434935.2_Nonsense_Mutation_p.G528* Q8IYT2 FTSJ1_HUMAN 528 integral to membrane methyltransferase activity|nucleic acid binding breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 AAAGCTCCTCCTAATGACTTT 0.338000 18 14 9.7654e-05 0.000106484 1 1 0 NLRP5 126206 broad.mit.edu 37 19 56539847 56539847 + Missense_Mutation SNP G G T rs61745533 TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:56539847G>T ENST00000390649.3 + 7 2248 c.2248G>T c.(2248-2250)Gct>Tct p.A750S NM_153447.4 NP_703148.4 P59047 NALP5_HUMAN NLR family, pyrin domain containing 5 750 mitochondrion|nucleolus ATP binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2) 25 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) AGATGAGTCCGCTGAGGCATG 0.522000 60 149 9.10829e-22 1.3629e-21 1 1 0 PTGDS 5730 broad.mit.edu 37 9 139873466 139873466 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr9:139873466G>A ENST00000224167.2 + 2 211 c.136G>A c.(136-138)Gcg>Acg p.A46T PTGDS_ENST00000371625.3_Missense_Mutation_p.A46T|PTGDS_ENST00000460340.1_3'UTR P41222 PTGDS_HUMAN prostaglandin D2 synthase 21kDa (brain) 46 prostaglandin biosynthetic process|regulation of circadian sleep/wake cycle, sleep Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum fatty acid binding|prostaglandin-D synthase activity|retinoid binding|transporter activity endometrium(2)|kidney(1)|lung(3)|ovary(1) 7 all_cancers(76;0.11) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.19) OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048) CTGGTTCAGCGCGGGCCTCGC 0.716000 12 43 0 0 1 0 0 STK36 27148 broad.mit.edu 37 2 219544360 219544360 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr2:219544360G>T ENST00000295709.3 + 8 1135 c.856G>T c.(856-858)Gac>Tac p.D286Y STK36_ENST00000440309.1_Missense_Mutation_p.D286Y|STK36_ENST00000392105.3_Missense_Mutation_p.D286Y|STK36_ENST00000392106.2_Missense_Mutation_p.D286Y NM_015690.4 NP_056505.2 Q9NRP7 STK36_HUMAN serine/threonine kinase 36 286 cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus ATP binding|protein serine/threonine kinase activity|transcription factor binding biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 52 Renal(207;0.0915) Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984) GGTCCTAAAGGACGAACAGGC 0.572000 13 30 1.5842e-08 1.90529e-08 1 1 0 ASAP3 55616 broad.mit.edu 37 1 23761031 23761031 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:23761031C>A ENST00000336689.3 - 18 1874 c.1830G>T c.(1828-1830)caG>caT p.Q610H ASAP3_ENST00000495646.1_Missense_Mutation_p.Q114H|ASAP3_ENST00000484906.1_5'UTR|ASAP3_ENST00000437606.2_Missense_Mutation_p.Q601H NM_017707.3 NP_060177.2 Q8TDY4 ASAP3_HUMAN ArfGAP with SH3 domain, ankyrin repeat and PH domain 3 610 regulation of ARF GTPase activity cytoplasm ARF GTPase activator activity|zinc ion binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1) 24 CTCACCCGTTCTGGATGATGA 0.542000 8 46 0.0581538 0.0590221 1 1 0 OR2T34 127068 broad.mit.edu 37 1 248738019 248738019 + Missense_Mutation SNP T T G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:248738019T>G ENST00000328782.2 - 1 61 c.40A>C c.(40-42)Agc>Cgc p.S14R NM_001001821.1 NP_001001821.1 Q8NGX1 O2T34_HUMAN olfactory receptor, family 2, subfamily T, member 34 14 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3) 43 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) AAATCAGTGCTTGCTGTTTGA 0.463000 12 80 0 0 1 0 0 ZNF616 90317 broad.mit.edu 37 19 52618819 52618819 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:52618819C>A ENST00000600228.1 - 4 1859 c.1598G>T c.(1597-1599)cGt>cTt p.R533L ZNF616_ENST00000330123.5_3'UTR NM_178523.3 NP_848618.2 Q08AN1 ZN616_HUMAN zinc finger protein 616 533 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189) AAAAGCTGAACGGTCACTGAA 0.438000 33 58 1.22384e-17 1.75628e-17 1 1 0 GPT2 84706 broad.mit.edu 37 16 46943768 46943768 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr16:46943768G>A ENST00000440783.2 + 6 1114 c.449G>A c.(448-450)cGg>cAg p.R150Q GPT2_ENST00000340124.4_Missense_Mutation_p.R250Q NM_001142466.1 NP_001135938.1 Q8TD30 ALAT2_HUMAN glutamic pyruvate transaminase (alanine aminotransferase) 2 250 2-oxoglutarate metabolic process|cellular amino acid biosynthetic process|L-alanine metabolic process mitochondrial matrix L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2) 23 all_cancers(37;0.0276)|all_epithelial(9;0.0498)|all_lung(18;0.0522) L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) GAGCTCCGGCGGGCGGTGCAG 0.557000 3 54 0 0 1 0 0 APPBP2 10513 broad.mit.edu 37 17 58577832 58577832 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr17:58577832C>T ENST00000083182.3 - 2 442 c.155G>A c.(154-156)cGc>cAc p.R52H NM_006380.2 NP_006371.2 Q92624 APBP2_HUMAN amyloid beta precursor protein (cytoplasmic tail) binding protein 2 52 intracellular protein transport cytoplasmic vesicle membrane|microtubule|microtubule associated complex|nucleus microtubule motor activity|protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(17)|pancreas(1)|urinary_tract(1) 25 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01) TTGACATAAGCGTCCCTGTTG 0.254000 12 32 0 0 1 0 0 TTC7B 145567 broad.mit.edu 37 14 91007790 91007790 + Silent SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr14:91007790C>T ENST00000357056.2 - 21 2626 c.2505G>A c.(2503-2505)acG>acA p.T835T TTC7B_ENST00000328459.6_Silent_p.T818T|TTC7B_ENST00000554654.1_5'UTR Q86TV6 TTC7B_HUMAN tetratricopeptide repeat domain 7B 818 binding NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 36 Melanoma(154;0.222) GGAAGCACTCCGTAGCCGCCG 0.682000 5 36 0 0 1 0 0 RAD23A 5886 broad.mit.edu 37 19 13059014 13059014 + Silent SNP A A T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:13059014A>T ENST00000586534.1 + 3 319 c.258A>T c.(256-258)tcA>tcT p.S86S RAD23A_ENST00000316856.3_Silent_p.S86S|RAD23A_ENST00000541222.1_5'UTR|RAD23A_ENST00000592268.1_Silent_p.S86S|RAD23A_ENST00000588826.2_3'UTR P54725 RD23A_HUMAN RAD23 homolog A (S. cerevisiae) 86 interspecies interaction between organisms|nucleotide-excision repair|positive regulation of viral genome replication|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process nucleus|proteasome complex damaged DNA binding|polyubiquitin binding|single-stranded DNA binding central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1) 12 AGGGTACCTCAGCACCCCCAG 0.652000 Nucleotide excision repair (NER) 36 63 0 0 1 0 0 HIBADH 11112 broad.mit.edu 37 7 27565903 27565903 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr7:27565903C>A ENST00000265395.2 - 8 1147 c.941G>T c.(940-942)tGt>tTt p.C314F NM_152740.3 NP_689953.1 P31937 3HIDH_HUMAN 3-hydroxyisobutyrate dehydrogenase 314 branched chain family amino acid catabolic process|pentose-phosphate shunt|valine metabolic process mitochondrial matrix 3-hydroxyisobutyrate dehydrogenase activity|NAD binding|phosphogluconate dehydrogenase (decarboxylating) activity endometrium(4)|kidney(2)|lung(3)|ovary(2)|prostate(1) 12 GBM - Glioblastoma multiforme(3;0.0368) NADH(DB00157) GCCCTTTGCACACATCATCCT 0.507000 21 26 2.70639e-06 3.06898e-06 1 1 0 EPB41L4B 54566 broad.mit.edu 37 9 112004014 112004014 + Silent SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr9:112004014G>A ENST00000374557.4 - 16 2002 c.1485C>T c.(1483-1485)caC>caT p.H495H EPB41L4B_ENST00000374566.3_Intron NM_018424.2 NP_060894.2 Q9H329 E41LB_HUMAN erythrocyte membrane protein band 4.1 like 4B 0 cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding|structural constituent of cytoskeleton NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 GGTTCTGGTCGTGGACATAAT 0.458000 33 111 0 0 1 0 0 ERCC6L2 375748 broad.mit.edu 37 9 98678076 98678076 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr9:98678076G>T ENST00000288985.7 + 5 1253 c.948G>T c.(946-948)caG>caT p.Q316H ERCC6L2_ENST00000437817.1_Missense_Mutation_p.Q127H|ERCC6L2_ENST00000466840.1_3'UTR NM_001010895.2 NP_001010895.1 Q5T890 RAD26_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2 316 Helicase ATP-binding. DNA repair nucleus ATP binding|ATP-dependent helicase activity|DNA binding CCATCCTTCAGAACAACATGA 0.373000 16 48 1.15088e-07 1.36007e-07 1 1 0 PLEKHA6 22874 broad.mit.edu 37 1 204234148 204234148 + Silent SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:204234148C>A ENST00000272203.3 - 6 619 c.303G>T c.(301-303)ctG>ctT p.L101L PLEKHA6_ENST00000414478.1_Silent_p.L101L NM_014935.4 NP_055750.2 Q9Y2H5 PKHA6_HUMAN pleckstrin homology domain containing, family A member 6 101 PH. breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 all_cancers(21;0.0222)|Breast(84;0.179) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229) GGATGCTGCCCAGGATACTCT 0.592000 52 156 5.57489e-27 8.59415e-27 1 1 0 FLG 2312 broad.mit.edu 37 1 152282658 152282658 + Silent SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:152282658G>T ENST00000368799.1 - 3 4739 c.4704C>A c.(4702-4704)gcC>gcA p.A1568A FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 1568 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TAGAGCTGCCGGCCCGAGTGG 0.587000 Ichthyosis 122 271 3.79751e-50 6.16786e-50 1 1 0 NEU4 129807 broad.mit.edu 37 2 242756340 242756340 + Silent SNP G G C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr2:242756340G>C ENST00000391969.2 + 4 1164 c.453G>C c.(451-453)gtG>gtC p.V151V NEU4_ENST00000404257.1_Silent_p.V163V|NEU4_ENST00000325935.6_Silent_p.V164V|NEU4_ENST00000407683.1_Silent_p.V151V|NEU4_ENST00000405370.1_Silent_p.V151V NM_001167602.1 NP_001161074.1 Q8WWR8 NEUR4_HUMAN sialidase 4 151 lysosomal lumen|organelle inner membrane exo-alpha-sialidase activity|protein binding breast(1)|lung(10)|prostate(2)|skin(2) 15 all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825) GTGGTGCCGTGCAGGGTAGGC 0.687000 3 14 0 0 1 0 0 OR10H3 26532 broad.mit.edu 37 19 15852502 15852502 + Silent SNP T T C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:15852502T>C ENST00000305892.1 + 1 300 c.300T>C c.(298-300)atT>atC p.I100I NM_013938.1 NP_039226.1 O60404 O10H3_HUMAN olfactory receptor, family 10, subfamily H, member 3 100 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 17 CTTGTGCCATTCAGATGTTCT 0.498000 13 347 0 0 1 0 0 OR10S1 219873 broad.mit.edu 37 11 123847568 123847568 + Silent SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:123847568G>A ENST00000531945.1 - 1 920 c.831C>T c.(829-831)cgC>cgT p.R277R NM_001004474.1 NP_001004474.1 Q8NGN2 O10S1_HUMAN olfactory receptor, family 10, subfamily S, member 1 277 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 36 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399) CCTCACTGGAGCGAGGCTGCA 0.597000 23 149 0 0 1 0 0 RGS9 8787 broad.mit.edu 37 17 63221182 63221182 + Silent SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr17:63221182G>A ENST00000449996.3 + 18 1533 c.1461G>A c.(1459-1461)ccG>ccA p.P487P RGS9_ENST00000262406.9_Silent_p.P490P|RGS9_ENST00000443584.3_Silent_p.P487P NM_001081955.2 NP_001075424.1 O75916 RGS9_HUMAN regulator of G-protein signaling 9 490 intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception cytoplasm|heterotrimeric G-protein complex GTPase activator activity|signal transducer activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3) 41 GCATGCCCCCGTCTCCTTCTA 0.647000 36 219 0 0 1 0 0 PSG9 5678 broad.mit.edu 37 19 43772240 43772240 + Silent SNP T T A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:43772240T>A ENST00000244293.7 - 2 192 c.126A>T c.(124-126)ccA>ccT p.P42P PSG9_ENST00000443718.3_Silent_p.P42P|PSG9_ENST00000593948.1_Silent_p.P42P|PSG9_ENST00000270077.3_Silent_p.P42P|PSG9_ENST00000596730.1_Silent_p.P42P|PSG9_ENST00000418820.2_Silent_p.P42P|PSG9_ENST00000291752.5_Silent_p.P42P Q00887 PSG9_HUMAN pregnancy specific beta-1-glycoprotein 9 42 Ig-like V-type. female pregnancy extracellular region central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 Prostate(69;0.00682) AAACTTTGGGTGGCTGGGCTT 0.493000 69 141 0 0 1 0 0 PRDM4 11108 broad.mit.edu 37 12 108145974 108145974 + Missense_Mutation SNP T T A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr12:108145974T>A ENST00000228437.5 - 5 803 c.344A>T c.(343-345)tAt>tTt p.Y115F RP11-864J10.4_ENST00000546714.1_RNA NM_012406.3 NP_036538.3 Q9UKN5 PRDM4_HUMAN PR domain containing 4 115 cell proliferation|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1) 20 GTCAGCTAAATAAGATAAAAT 0.353000 4 69 0 0 1 0 0 NLRP12 91662 broad.mit.edu 37 19 54304612 54304612 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:54304612C>A ENST00000324134.6 - 7 2793 c.2625G>T c.(2623-2625)gaG>gaT p.E875D NLRP12_ENST00000391773.1_Missense_Mutation_p.E876D|NLRP12_ENST00000391772.1_Intron|NLRP12_ENST00000535162.1_Missense_Mutation_p.E875D|NLRP12_ENST00000354278.3_Intron|NLRP12_ENST00000351894.4_Intron|NLRP12_ENST00000391775.3_Missense_Mutation_p.E875D|NLRP12_ENST00000345770.5_Missense_Mutation_p.E876D NM_001277126.1|NM_144687.2 NP_001264055.1|NP_653288.1 P59046 NAL12_HUMAN NLR family, pyrin domain containing 12 875 negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB cytoplasm ATP binding|caspase activator activity|protein binding NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 80 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.026) TTGAGGCCAGCTCGTCACAGG 0.532000 23 41 2.52088e-20 3.73223e-20 1 1 0 SPEF2 79925 broad.mit.edu 37 5 35763770 35763770 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr5:35763770C>T ENST00000440995.2 + 26 3752 c.3752C>T c.(3751-3753)aCc>aTc p.T1251I CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000356031.3_Missense_Mutation_p.T1256I Q9C093 SPEF2_HUMAN sperm flagellar 2 1256 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 37 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) GTCATGGACACCTGGCAGCAG 0.408000 33 96 0 0 1 0 0 MKRN1 23608 broad.mit.edu 37 7 140158963 140158963 + Silent SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr7:140158963G>A ENST00000255977.2 - 4 839 c.615C>T c.(613-615)acC>acT p.T205T MKRN1_ENST00000437223.2_Intron|MKRN1_ENST00000443720.2_Silent_p.T205T|MKRN1_ENST00000474576.1_Silent_p.T141T|MKRN1_ENST00000480552.1_Intron NM_013446.3 NP_038474.2 Q9UHC7 MKRN1_HUMAN makorin ring finger protein 1 205 ligase activity|nucleic acid binding|protein binding|zinc ion binding endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1) 16 Melanoma(164;0.00956) TCTCCACGGCGGTTTGCTCTT 0.537000 5 221 0 0 1 0 0 RPL3L 6123 broad.mit.edu 37 16 1996683 1996683 + Silent SNP C C T rs139240010 TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr16:1996683C>T ENST00000268661.7 - 7 988 c.894G>A c.(892-894)ctG>ctA p.L298L NM_005061.2 NP_005052.1 Q92901 RL3L_HUMAN ribosomal protein L3-like 298 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosol|ribosome RNA binding|structural constituent of ribosome NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1) 17 TGTTCTTCACCAGCTTCCCGT 0.652000 10 65 0 0 1 0 0 F11 2160 broad.mit.edu 37 4 187192886 187192886 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr4:187192886C>A ENST00000264692.4 + 3 512 c.179C>A c.(178-180)aCt>aAt p.T60N F11_ENST00000492972.2_Missense_Mutation_p.T60N|F11_ENST00000403665.2_Missense_Mutation_p.T60N P03951 FA11_HUMAN coagulation factor XI 60 Apple 1. blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis extracellular space|plasma membrane heparin binding|serine-type endopeptidase activity NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 32 all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202) OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176) Coagulation Factor IX(DB00100) TTACTCTTCACTTTCACGGCG 0.463000 32 67 1.17478e-05 1.31096e-05 1 1 0 IRX1 79192 broad.mit.edu 37 5 3599696 3599696 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr5:3599696G>T ENST00000302006.3 + 2 686 c.634G>T c.(634-636)Ggc>Tgc p.G212C CTD-2012M11.3_ENST00000559410.1_RNA NM_024337.3 NP_077313.3 P78414 IRX1_HUMAN iroquois homeobox 1 212 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 43 CGACACCGAGGGCGACCCGGA 0.627000 11 150 3.86212e-05 4.23813e-05 1 1 0 MRPS31 10240 broad.mit.edu 37 13 41341054 41341054 + Missense_Mutation SNP T T A rs150773124 TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr13:41341054T>A ENST00000323563.6 - 2 304 c.268A>T c.(268-270)Agt>Tgt p.S90C NM_005830.3 NP_005821.2 Q92665 RT31_HUMAN mitochondrial ribosomal protein S31 90 mitochondrion|ribosome protein domain specific binding breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1) 13 Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194) all cancers(112;1.52e-08)|Epithelial(112;7.63e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000192)|GBM - Glioblastoma multiforme(144;0.00233)|BRCA - Breast invasive adenocarcinoma(63;0.0706) TCCTTTTCACTGTCTTGGCTC 0.398000 41 53 0 0 1 0 0 KRT25 147183 broad.mit.edu 37 17 38906727 38906727 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr17:38906727C>A ENST00000312150.4 - 6 1140 c.1080G>T c.(1078-1080)gaG>gaT p.E360D NM_181534.3 NP_853512.1 Q7Z3Z0 K1C25_HUMAN keratin 25 360 Coil 2.|Rod. cytoplasm|intermediate filament structural molecule activity endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4) 16 Breast(137;0.00526) GCTTCTGGCCCTCGGTCTCGG 0.567000 12 208 1.08611e-07 1.28488e-07 1 1 0 PCDHGA9 56107 broad.mit.edu 37 5 140784028 140784028 + Silent SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr5:140784028C>T ENST00000573521.1 + 1 1509 c.1509C>T c.(1507-1509)acC>acT p.T503T PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA8_ENST00000398604.2_Intron NM_018921.2|NM_032089.1 NP_061744.1|NP_114478.1 endometrium(1)|kidney(1)|lung(3) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTCTCTCCACCTATGTCTCTA 0.458000 15 22 0 0 1 0 0 TBL3 10607 broad.mit.edu 37 16 2025882 2025882 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr16:2025882C>T ENST00000568546.1 + 11 1189 c.1061C>T c.(1060-1062)tCc>tTc p.S354F NM_006453.2 NP_006444.2 Q12788 TBL3_HUMAN transducin (beta)-like 3 354 G-protein signaling, coupled to cGMP nucleotide second messenger|rRNA processing nucleolus|small-subunit processome receptor signaling protein activity breast(1)|endometrium(2)|kidney(4)|lung(7)|ovary(1)|prostate(2)|skin(1) 18 GTCGTGGCCTCCAATAGCCCC 0.627000 16 109 0 0 1 0 0 OR8K3 219473 broad.mit.edu 37 11 56086198 56086198 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:56086198G>T ENST00000312711.1 + 1 416 c.416G>T c.(415-417)aGg>aTg p.R139M NM_001005202.1 NP_001005202.1 Q8NH51 OR8K3_HUMAN olfactory receptor, family 8, subfamily K, member 3 139 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 40 Esophageal squamous(21;0.00448) ATGTCACGAAGGGTATGTCAG 0.418000 20 57 1.40151e-16 1.99213e-16 1 1 0 OXGR1 27199 broad.mit.edu 37 13 97639847 97639847 + Missense_Mutation SNP G G C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr13:97639847G>C ENST00000298440.1 - 4 410 c.167C>G c.(166-168)tCc>tGc p.S56C OXGR1_ENST00000543457.1_Missense_Mutation_p.S56C NM_080818.3 NP_543008.3 Q96P68 OXGR1_HUMAN oxoglutarate (alpha-ketoglutarate) receptor 1 56 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled NS(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 15 all_neural(89;0.0982)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.186) AATGTAAGTGGATATCACTAC 0.458000 39 16 0 0 1 0 0 SRRM2 23524 broad.mit.edu 37 16 2815876 2815876 + Missense_Mutation SNP A A G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr16:2815876A>G ENST00000301740.8 + 11 5896 c.5347A>G c.(5347-5349)Aga>Gga p.R1783G NM_016333.3 NP_057417.3 Q9UQ35 SRRM2_HUMAN serine/arginine repetitive matrix 2 1783 Arg-rich.|Ser-rich. Cajal body|catalytic step 2 spliceosome|nuclear speck C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7) 105 AGAGAAAACAAGAACAACCCG 0.597000 30 42 0 0 1 0 0 DIXDC1 85458 broad.mit.edu 37 11 111844945 111844945 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:111844945G>T ENST00000440460.2 + 4 812 c.515G>T c.(514-516)cGa>cTa p.R172L DIXDC1_ENST00000529225.1_Missense_Mutation_p.R171L|DIXDC1_ENST00000389821.4_3'UTR|DIXDC1_ENST00000531396.1_Missense_Mutation_p.R172L NM_001037954.2 NP_001033043.1 Q155Q3 DIXC1_HUMAN DIX domain containing 1 172 Actin-binding. multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway cytosol|focal adhesion actin binding|gamma-tubulin binding|signal transducer activity p.R172Q(1) cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1) 17 all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) Epithelial(105;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548) GACATGTCCCGATCAGGACGG 0.532000 8 46 7.48243e-07 8.66895e-07 1 1 0 ZAK 51776 broad.mit.edu 37 2 174081938 174081938 + Missense_Mutation SNP A A T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr2:174081938A>T ENST00000338983.3 + 11 1142 c.947A>T c.(946-948)aAg>aTg p.K316M MLTK_ENST00000539448.1_Missense_Mutation_p.K316M|MLK7-AS1_ENST00000423106.2_RNA|MLTK_ENST00000409176.2_Missense_Mutation_p.K316M|MLTK_ENST00000375213.3_Missense_Mutation_p.K316M|MLTK_ENST00000431503.2_Missense_Mutation_p.K215M|MLK7-AS1_ENST00000422703.1_RNA NM_133646.2 NP_598407.1 AGACGTTTAAAGATGTGGGAG 0.522000 28 58 0 0 1 0 0 ZNF536 9745 broad.mit.edu 37 19 30935395 30935395 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:30935395C>A ENST00000355537.3 + 2 1073 c.926C>A c.(925-927)gCt>gAt p.A309D NM_014717.1 NP_055532.1 O15090 ZN536_HUMAN zinc finger protein 536 309 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 182 Esophageal squamous(110;0.0834) GACTTCGCGGCTTCGCAGGAG 0.642000 50 141 1.07234e-20 1.59289e-20 1 1 0 GDAP1 54332 broad.mit.edu 37 8 75275219 75275219 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr8:75275219C>T ENST00000220822.7 + 5 705 c.625C>T c.(625-627)Ctt>Ttt p.L209F GDAP1_ENST00000434412.2_Missense_Mutation_p.L141F|GDAP1_ENST00000521096.1_3'UTR NM_001040875.2|NM_018972.2 NP_001035808.1|NP_061845.2 Q8TB36 GDAP1_HUMAN ganglioside induced differentiation associated protein 1 209 GST C-terminal. cytoplasm p.L209V(1) endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 Breast(64;0.00769) Myeloproliferative disorder(644;0.0122) BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.104)|all cancers(69;0.234) GAAGAAAATTCTTGATGAGTT 0.318000 23 33 0 0 1 0 0 ITGA4 3676 broad.mit.edu 37 2 182392052 182392052 + Nonsense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr2:182392052G>T ENST00000397033.2 + 22 2798 c.2368G>T c.(2368-2370)Gga>Tga p.G790* NM_000885.4 NP_000876.3 P13612 ITA4_HUMAN integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) 790 blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response integrin complex identical protein binding|receptor activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 OV - Ovarian serous cystadenocarcinoma(117;0.0593) Natalizumab(DB00108) ATTTGTGTATGGATCAAATGA 0.299000 5 29 5.9392e-07 6.89882e-07 1 1 0 ELL 8178 broad.mit.edu 37 19 18576369 18576369 + Silent SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:18576369G>A ENST00000262809.4 - 4 393 c.322C>T c.(322-324)Ctg>Ttg p.L108L NM_006532.3 NP_006523.1 P55199 ELL_HUMAN elongation factor RNA polymerase II 108 positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction Cajal body|nuclear speck|transcription elongation factor complex protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(5)|prostate(1) 19 GBM - Glioblastoma multiforme(1328;7.81e-07) AGGCAGTCCAGGTGAACTTCC 0.637000 T MLL AL 10 23 0 0 1 0 0 COL22A1 169044 broad.mit.edu 37 8 139790633 139790633 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr8:139790633G>A ENST00000303045.6 - 15 2167 c.1721C>T c.(1720-1722)cCt>cTt p.P574L COL22A1_ENST00000435777.1_Missense_Mutation_p.P574L NM_152888.1 NP_690848.1 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 574 Collagen-like 3.|Gly-rich.|Pro-rich. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) GGGGAGTCCAGGTGGTCCTTG 0.552000 HNSCC(7;0.00092) 9 29 0 0 1 0 0 CECR2 27443 broad.mit.edu 37 22 18028664 18028664 + Silent SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr22:18028664G>A ENST00000262608.8 + 16 3624 c.3624G>A c.(3622-3624)caG>caA p.Q1208Q CECR2_ENST00000400573.4_Silent_p.Q1207Q|CECR2_ENST00000400585.2_Silent_p.Q1065Q NM_031413.3 NP_113601.2 Q9BXF3 CECR2_HUMAN cat eye syndrome chromosome region, candidate 2 1249 chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport protein binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 59 all_epithelial(15;0.139) Lung(27;0.146) CAGCCAGTCAGCCTCCCCCAC 0.557000 15 79 0 0 1 0 0 PER3 8863 broad.mit.edu 37 1 7846896 7846896 + Splice_Site SNP A A T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:7846896A>T ENST00000377532.3 + 3 614 c.390_splice c.e3+1 p.T130_splice PER3_ENST00000377541.1_Splice_Site_p.T130_splice|PER3_ENST00000361923.2_Splice_Site_p.T130_splice P56645 PER3_HUMAN period circadian clock 3 130 PAS 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus signal transducer activity breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 39 Ovarian(185;0.0634)|all_lung(157;0.178) all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649) CCAAAAACACAGTAAGAATTC 0.453000 14 64 0 0 1 0 0 FAM195A 84331 broad.mit.edu 37 16 698150 698150 + Nonsense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr16:698150G>A ENST00000307650.4 + 5 622 c.443G>A c.(442-444)tGg>tAg p.W148* NM_138418.2 NP_612427.2 Q9BUT9 F195A_HUMAN family with sequence similarity 195, member A 148 haematopoietic_and_lymphoid_tissue(1)|kidney(1) 2 GACGAGTGGTGGGCGCAGCAG 0.637000 3 25 0 0 1 0 0 ANKFN1 162282 broad.mit.edu 37 17 54517716 54517716 + Silent SNP T T C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr17:54517716T>C ENST00000566473.2 + 8 948 c.948T>C c.(946-948)tcT>tcC p.S316S ANKFN1_ENST00000318698.2_Silent_p.S316S Q8N957 ANKF1_HUMAN ankyrin-repeat and fibronectin type III domain containing 1 316 Fibronectin type-III. NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1) 53 AAGACTTTTCTCCTTTGGCTG 0.453000 38 42 0 0 1 0 0 NR5A2 2494 broad.mit.edu 37 1 200014583 200014583 + Silent SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:200014583C>A ENST00000367362.3 + 4 580 c.334C>A c.(334-336)Cga>Aga p.R112R NR5A2_ENST00000236914.3_Silent_p.R66R|NR5A2_ENST00000544748.1_Silent_p.R40R NM_001276464.1|NM_205860.1 NP_001263393.1|NP_995582.1 O00482 NR5A2_HUMAN nuclear receptor subfamily 5, group A, member 2 112 embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 31 Prostate(682;0.19) ATTTTTTAAGCGAACAGTCCA 0.328000 8 50 3.09899e-07 3.62599e-07 1 1 0 IGDCC4 57722 broad.mit.edu 37 15 65678341 65678341 + Missense_Mutation SNP G G C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr15:65678341G>C ENST00000352385.2 - 18 3217 c.3008C>G c.(3007-3009)tCc>tGc p.S1003C NM_020962.1 NP_066013.1 Q8TDY8 IGDC4_HUMAN immunoglobulin superfamily, DCC subclass, member 4 1003 integral to membrane|plasma membrane NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3) 44 CCGAGCTCTGGAGTACAGCGC 0.657000 OREG0023195 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 7 0 0 1 0 0 PCDH8 5100 broad.mit.edu 37 13 53421200 53421200 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr13:53421200C>T ENST00000377942.3 - 1 1575 c.1372G>A c.(1372-1374)Gaa>Aaa p.E458K PCDH8_ENST00000338862.4_Missense_Mutation_p.E458K NM_002590.3 NP_002581.2 O95206 PCDH8_HUMAN protocadherin 8 458 Cadherin 4. cell-cell signaling|homophilic cell adhesion cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane calcium ion binding breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1) 36 Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.19e-08) GCGATGCGTTCGCGGTCCAGC 0.711000 3 16 0 0 1 0 0 VIP 7432 broad.mit.edu 37 6 153078257 153078257 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr6:153078257C>A ENST00000367244.3 + 6 666 c.494C>A c.(493-495)cCa>cAa p.P165Q VIP_ENST00000367243.3_Missense_Mutation_p.P164Q NM_003381.3 NP_003372.1 P01282 VIP_HUMAN vasoactive intestinal peptide 165 body fluid secretion|G-protein coupled receptor protein signaling pathway|positive regulation of cell proliferation extracellular region neuropeptide hormone activity haematopoietic_and_lymphoid_tissue(1)|lung(4)|skin(1) 6 Ovarian(120;0.0654) OV - Ovarian serous cystadenocarcinoma(155;4.5e-11)|BRCA - Breast invasive adenocarcinoma(81;0.144) CCCGACTTTCCAGAAGAGTTA 0.403000 20 10 9.57634e-11 1.21767e-10 1 1 0 ZIC1 7545 broad.mit.edu 37 3 147130413 147130413 + Missense_Mutation SNP G G C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr3:147130413G>C ENST00000282928.4 + 2 1820 c.1091G>C c.(1090-1092)tGc>tCc p.C364S NM_003412.3 NP_003403.2 Q15915 ZIC1_HUMAN Zic family member 1 364 behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 63 CCCTATCTTTGCAAGATGTGC 0.577000 33 80 0 0 1 0 0 MGAT3 4248 broad.mit.edu 37 22 39884149 39884149 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr22:39884149G>A ENST00000341184.6 + 2 1012 c.797G>A c.(796-798)cGc>cAc p.R266H NM_001098270.1|NM_002409.4 NP_001091740.1|NP_002400.3 Q09327 MGAT3_HUMAN mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase 266 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1) 24 Melanoma(58;0.04) GAGTACATCCGCCACAAGGTG 0.637000 27 189 0 0 1 0 0 TBX4 9496 broad.mit.edu 37 17 59544958 59544958 + Silent SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr17:59544958G>T ENST00000393853.4 + 5 652 c.489G>T c.(487-489)cgG>cgT p.R163R TBX4_ENST00000240335.1_Silent_p.R163R P57082 TBX4_HUMAN T-box 4 163 leg morphogenesis|skeletal system morphogenesis nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 ACTGGATGCGGCAGCTGGTCT 0.617000 15 70 1.3612e-06 1.56654e-06 1 1 0 NAPG 8774 broad.mit.edu 37 18 10534471 10534471 + Missense_Mutation SNP A A T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr18:10534471A>T ENST00000322897.6 + 5 305 c.236A>T c.(235-237)gAg>gTg p.E79V NAPG_ENST00000542979.1_5'UTR NM_003826.2 NP_003817.1 Q99747 SNAG_HUMAN N-ethylmaleimide-sensitive factor attachment protein, gamma 79 cellular membrane fusion|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein complex assembly|protein stabilization membrane|membrane fraction|mitochondrion protein binding large_intestine(2)|lung(2) 4 AGAGCTTATGAGCAAGCTGGA 0.343000 20 25 0 0 1 0 0 ANO5 203859 broad.mit.edu 37 11 22301127 22301127 + Missense_Mutation SNP T T A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:22301127T>A ENST00000324559.8 + 22 2875 c.2558T>A c.(2557-2559)aTg>aAg p.M853K NM_001142649.1|NM_213599.2 NP_001136121.1|NP_998764.1 Q75V66 ANO5_HUMAN anoctamin 5 853 chloride channel complex|endoplasmic reticulum membrane chloride channel activity breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 CTGGCCTGGATGATACCTGAT 0.363000 12 48 0 0 1 0 0 TRIO 7204 broad.mit.edu 37 5 14280534 14280534 + Silent SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr5:14280534C>A ENST00000344204.4 + 3 360 c.336C>A c.(334-336)gcC>gcA p.A112A TRIO_ENST00000537187.1_Silent_p.A112A|TRIO_ENST00000509967.2_Silent_p.A63A NM_007118.2 NP_009049.2 O75962 TRIO_HUMAN trio Rho guanine nucleotide exchange factor 112 CRAL-TRIO. apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 118 Lung NSC(4;0.000742) CCTATCTAGCCTGTATTCCCA 0.458000 6 157 0.00307968 0.00321738 1 1 0 SPECC1L 23384 broad.mit.edu 37 22 24759259 24759259 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr22:24759259G>T ENST00000314328.9 + 12 3059 c.2774G>T c.(2773-2775)cGg>cTg p.R925L SPECC1L_ENST00000541492.1_Missense_Mutation_p.R925L|SPECC1L_ENST00000437398.1_Missense_Mutation_p.R925L|KB-1896H10.1_ENST00000358654.2_3'UTR NM_001254733.1|NM_015330.3 NP_001241662.1|NP_056145.3 Q69YQ0 CYTSA_HUMAN sperm antigen with calponin homology and coiled-coil domains 1-like 925 cell cycle|cell division breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(3)|stomach(2)|urinary_tract(1) 27 TCAGCCAGCCGGCCTGCTTCC 0.403000 20 80 1.96292e-10 2.47211e-10 1 1 0 NAGPA 51172 broad.mit.edu 37 16 5077317 5077317 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr16:5077317G>T ENST00000312251.3 - 8 1257 c.1238C>A c.(1237-1239)cCc>cAc p.P413H NAGPA_ENST00000381955.3_Intron|RP11-165E7.1_ENST00000588778.1_RNA NM_016256.3 NP_057340.2 Q9UK23 NAGPA_HUMAN N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase 413 carbohydrate metabolic process|lysosome organization|protein modification process|protein targeting to lysosome Golgi cisterna membrane|integral to membrane N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity endometrium(4)|large_intestine(4)|lung(3)|urinary_tract(1) 12 N-Acetyl-D-glucosamine(DB00141) GGGGTCACAGGGACAATGGTG 0.627000 23 69 9.57634e-11 1.21767e-10 1 1 0 ZNF74 7625 broad.mit.edu 37 22 20760157 20760157 + Silent SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr22:20760157C>T ENST00000400451.2 + 5 1348 c.834C>T c.(832-834)tgC>tgT p.C278C ZNF74_ENST00000405993.1_Silent_p.C246C|ZNF74_ENST00000356671.5_Silent_p.C278C|ZNF74_ENST00000357502.5_3'UTR|ZNF74_ENST00000403682.3_3'UTR NM_003426.3 NP_003417.2 Q16587 ZNF74_HUMAN zinc finger protein 74 278 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent actin cytoskeleton|nucleus DNA binding|RNA binding|zinc ion binding central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 19 Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219) Lung SC(17;0.0262)|all_lung(157;0.248) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173) CTTACAAGTGCGATGAATGCG 0.662000 5 87 0 0 1 0 0 SHC1 6464 broad.mit.edu 37 1 154936388 154936388 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:154936388C>T ENST00000448116.2 - 12 1866 c.1646G>A c.(1645-1647)cGc>cAc p.R549H SHC1_ENST00000368453.4_Missense_Mutation_p.R439H|SHC1_ENST00000490667.1_5'UTR|SHC1_ENST00000606391.1_Missense_Mutation_p.R349H|SHC1_ENST00000368445.5_Missense_Mutation_p.R548H|SHC1_ENST00000368450.1_Missense_Mutation_p.R438H|SHC1_ENST00000368449.4_Missense_Mutation_p.R319H NM_001130040.1 NP_001123512.1 P29353 SHC1_HUMAN SHC (Src homology 2 domain containing) transforming protein 1 548 SH2. activation of MAPK activity|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|positive regulation of DNA replication|Ras protein signal transduction|regulation of epidermal growth factor receptor activity|regulation of growth cytosol|mitochondrial matrix|Shc-EGFR complex epidermal growth factor receptor binding|insulin receptor binding|insulin-like growth factor receptor binding|phospholipid binding|protein binding|transmembrane receptor protein tyrosine kinase adaptor activity breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1) 20 all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00034) ACTTTCAAAGCGGTGATCCTT 0.517000 27 187 0 0 1 0 0 CLIP3 25999 broad.mit.edu 37 19 36517093 36517093 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:36517093C>T ENST00000360535.4 - 6 864 c.637G>A c.(637-639)Gcc>Acc p.A213T CLIP3_ENST00000593074.1_Missense_Mutation_p.A213T|AC002116.7_ENST00000586962.1_RNA NM_015526.2 NP_056341.1 Q96DZ5 CLIP3_HUMAN CAP-GLY domain containing linker protein 3 213 chaperone-mediated protein transport|fat cell differentiation|membrane biogenesis|negative regulation of microtubule polymerization|peptidyl-L-cysteine S-palmitoylation|positive regulation of apoptosis|positive regulation of endocytosis|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose transport|positive regulation of protein phosphorylation early endosome membrane|Golgi stack|membrane raft|microsome|plasma membrane|recycling endosome membrane|trans-Golgi network membrane ganglioside binding|microtubule binding cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 23 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) CATTTGGCGGCGCCCAGGCAC 0.632000 15 59 0 0 1 0 0 DUSP19 142679 broad.mit.edu 37 2 183960192 183960192 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr2:183960192G>A ENST00000354221.4 + 4 635 c.460G>A c.(460-462)Gtt>Att p.V154I DUSP19_ENST00000469344.1_3'UTR|AC064871.3_ENST00000444562.1_RNA|AC064871.3_ENST00000413954.1_RNA|DUSP19_ENST00000342619.6_Missense_Mutation_p.V103I NM_080876.3 NP_543152.1 Q8WTR2 DUS19_HUMAN dual specificity phosphatase 19 154 Tyrosine-protein phosphatase. JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|positive regulation of JNK cascade|positive regulation of JUN kinase activity cytoplasm JUN kinase phosphatase activity|MAP-kinase scaffold activity|mitogen-activated protein kinase kinase kinase binding|protein kinase activator activity|protein kinase inhibitor activity|protein tyrosine phosphatase activity breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(4)|pancreas(1) 17 TAATGCAGGCGTTTCCAGGGC 0.348000 17 111 0 0 1 0 0 CYP2A13 1553 broad.mit.edu 37 19 41600928 41600928 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:41600928G>A ENST00000330436.3 + 8 1226 c.1226G>A c.(1225-1227)cGg>cAg p.R409Q NM_000766.4 NP_000757.2 Q16696 CP2AD_HUMAN cytochrome P450, family 2, subfamily A, polypeptide 13 409 RDFN -> QDCS (in Ref. 1; AAB40519). xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2) 42 Clomipramine(DB01242)|Nicotine(DB00184) TCCAACCCCCGGGACTTCAAT 0.547000 53 120 0 0 1 0 0 PPFIA4 8497 broad.mit.edu 37 1 203015020 203015020 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:203015020C>T ENST00000367240.2 + 8 1437 c.910C>T c.(910-912)Cgc>Tgc p.R304C PPFIA4_ENST00000295706.4_5'UTR|PPFIA4_ENST00000414050.2_Missense_Mutation_p.R11C|PPFIA4_ENST00000447715.2_Missense_Mutation_p.R304C O75335 LIPA4_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4 232 cell communication cell surface|cytoplasm protein binding NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 50 ACTGGAGAAGCGCTACCTGGC 0.577000 19 171 0 0 1 0 0 TENM1 10178 broad.mit.edu 37 X 124028170 124028170 + Missense_Mutation SNP C C G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chrX:124028170C>G ENST00000422452.2 - 3 573 c.510G>C c.(508-510)atG>atC p.M170I TENM1_ENST00000371130.3_Missense_Mutation_p.M170I NM_001163278.1|NM_001163279.1 NP_001156750.1|NP_001156751.1 teneurin transmembrane protein 1 CTTGAGCCTCCATGTCACAAC 0.413000 13 56 0 0 1 0 0 OR2AG2 338755 broad.mit.edu 37 11 6789862 6789862 + Silent SNP G G A rs145583606 by1000genomes TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:6789862G>A ENST00000338569.2 - 1 424 c.327C>T c.(325-327)agC>agT p.S109S NM_001004490.1 NP_001004490.1 A6NM03 O2AG2_HUMAN olfactory receptor, family 2, subfamily AG, member 2 109 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S109S(1) breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(13)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1) 28 Medulloblastoma(188;0.00776)|all_neural(188;0.0652) Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) GGTCCTCAGCGCTACCCATTG 0.522000 8 70 0 0 1 0 0 OR10H3 26532 broad.mit.edu 37 19 15852501 15852501 + Missense_Mutation SNP T T A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:15852501T>A ENST00000305892.1 + 1 299 c.299T>A c.(298-300)aTt>aAt p.I100N NM_013938.1 NP_039226.1 O60404 O10H3_HUMAN olfactory receptor, family 10, subfamily H, member 3 100 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 17 GCTTGTGCCATTCAGATGTTC 0.502000 13 344 0 0 1 0 0 LAMP1 3916 broad.mit.edu 37 13 113964175 113964175 + Missense_Mutation SNP A A G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr13:113964175A>G ENST00000332556.4 + 3 595 c.401A>G c.(400-402)aAa>aGa p.K134R LAMP1_ENST00000397181.3_Missense_Mutation_p.K134R NM_005561.3 NP_005552.3 P11279 LAMP1_HUMAN lysosomal-associated membrane protein 1 134 First lumenal domain. endosome membrane|integral to plasma membrane|lysosomal membrane|membrane fraction NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|skin(1)|stomach(2) 16 Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188) all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246) GCGAGCTCCAAAGGTAAGAAC 0.423000 12 167 0 0 1 0 0 SH2B1 25970 broad.mit.edu 37 16 28878163 28878163 + Nonsense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr16:28878163G>T ENST00000337120.5 + 1 4039 c.748G>T c.(748-750)Gaa>Taa p.E250* SH2B1_ENST00000563674.1_Intron|SH2B1_ENST00000395532.4_Nonsense_Mutation_p.E250*|SH2B1_ENST00000322610.8_Nonsense_Mutation_p.E250*|SH2B1_ENST00000359285.5_Nonsense_Mutation_p.E250*|SH2B1_ENST00000538342.1_Intron|SH2B1_ENST00000545570.1_Intron NM_001145812.1|NM_015503.2 NP_001139284.1|NP_056318.2 Q9NRF2 SH2B1_HUMAN SH2B adaptor protein 1 250 Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity). blood coagulation|intracellular signal transduction cytosol|membrane|nucleus signal transducer activity endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 25 GGTGCAGAGGGAAGAGCTGCT 0.657000 18 21 1.87028e-06 2.14361e-06 1 1 0 RYR2 6262 broad.mit.edu 37 1 237732593 237732593 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:237732593C>A ENST00000366574.2 + 29 3889 c.3572C>A c.(3571-3573)gCt>gAt p.A1191D RYR2_ENST00000360064.6_Missense_Mutation_p.A1189D|RYR2_ENST00000542537.1_Missense_Mutation_p.A1175D NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 1191 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) TCAGAACTGGCTTTCAAGGAC 0.443000 9 35 0.000673444 0.000712181 1 1 0 HES3 390992 broad.mit.edu 37 1 6304610 6304610 + Silent SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:6304610C>A ENST00000377898.3 + 3 149 c.84C>A c.(82-84)atC>atA p.I28I NM_001024598.3 NP_001019769.1 Q5TGS1 HES3_HUMAN hes family bHLH transcription factor 3 28 Helix-loop-helix motif. transcription, DNA-dependent nucleus DNA binding lung(2)|skin(1) 3 Ovarian(185;0.0634) all_cancers(23;2.48e-32)|all_epithelial(116;1.14e-17)|all_lung(118;2.85e-06)|all_neural(13;3.68e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;3.77e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15) Epithelial(90;1.2e-37)|GBM - Glioblastoma multiforme(13;3.2e-29)|OV - Ovarian serous cystadenocarcinoma(86;2.52e-19)|Colorectal(212;1.19e-07)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|BRCA - Breast invasive adenocarcinoma(365;0.00105)|STAD - Stomach adenocarcinoma(132;0.00308)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.241) TCGGGTAGATCCGGAAGCGCA 0.582000 16 17 3.32936e-07 3.88945e-07 1 1 0 ALX4 60529 broad.mit.edu 37 11 44286578 44286578 + Silent SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:44286578C>T ENST00000329255.3 - 4 1165 c.1062G>A c.(1060-1062)ggG>ggA p.G354G NM_021926.3 NP_068745.2 Q9H161 ALX4_HUMAN ALX homeobox 4 354 hair follicle development central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1) 16 GACTGCCAGCCCCAGACACAC 0.687000 11 40 0 0 1 0 0 OR10G8 219869 broad.mit.edu 37 11 123900638 123900638 + Silent SNP T T C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:123900638T>C ENST00000431524.1 + 1 342 c.309T>C c.(307-309)ttT>ttC p.F103F NM_001004464.1 NP_001004464.1 Q8NGN5 O10G8_HUMAN olfactory receptor, family 10, subfamily G, member 8 103 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 44 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521) TCTATTTCTTTCACTTCCTAG 0.537000 5 182 0 0 1 0 0 MRVI1 10335 broad.mit.edu 37 11 10647847 10647847 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:10647847G>A ENST00000547195.1 - 8 1261 c.761C>T c.(760-762)cCg>cTg p.P254L MRVI1_ENST00000558540.1_Missense_Mutation_p.P30L|MRVI1_ENST00000552103.1_Missense_Mutation_p.P254L|MRVI1_ENST00000424001.1_Missense_Mutation_p.P30L|MRVI1_ENST00000423302.2_Missense_Mutation_p.P345L|MRVI1_ENST00000527509.2_Missense_Mutation_p.P254L|MRVI1_ENST00000421747.1_Missense_Mutation_p.P336L|MRVI1_ENST00000436272.1_Missense_Mutation_p.P318L|MRVI1_ENST00000531107.1_Missense_Mutation_p.P337L|MRVI1_ENST00000534266.2_Missense_Mutation_p.P30L|MRVI1_ENST00000541483.1_Intron|MRVI1_ENST00000545852.1_Missense_Mutation_p.P30L NM_001100163.2|NM_001206881.1 NP_001093633.1|NP_001193810.1 Q9Y6F6 MRVI1_HUMAN murine retrovirus integration site 1 homolog 318 platelet activation endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2) 22 all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723) TGGACTTCTCGGCAGAGGGCT 0.672000 5 20 0 0 1 0 0 WDR17 116966 broad.mit.edu 37 4 177093569 177093569 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr4:177093569C>T ENST00000393643.2 + 25 3443 c.3191C>T c.(3190-3192)aCa>aTa p.T1064I WDR17_ENST00000508596.1_Missense_Mutation_p.T1049I|WDR17_ENST00000280190.4_Missense_Mutation_p.T1088I|WDR17_ENST00000507824.2_Missense_Mutation_p.T1063I NM_170710.4 NP_733828.2 Q8IZU2 WDR17_HUMAN WD repeat domain 17 1088 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 92 Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232) TTAGCTGAGACAGCCCGTGCA 0.333000 10 43 0 0 1 0 0 FBXL7 23194 broad.mit.edu 37 5 15936788 15936788 + Silent SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr5:15936788C>T ENST00000504595.1 + 4 1450 c.969C>T c.(967-969)tgC>tgT p.C323C FBXL7_ENST00000510662.1_Silent_p.C276C|FBXL7_ENST00000329673.7_Silent_p.C311C NM_001278317.1|NM_012304.3 NP_001265246.1|NP_036436.1 Q9UJT9 FBXL7_HUMAN F-box and leucine-rich repeat protein 7 323 ubiquitin-dependent protein catabolic process ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 TGATCTACTGCGCCTCCATCA 0.667000 5 76 0 0 1 0 0 AMER1 139285 broad.mit.edu 37 X 63411142 63411142 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chrX:63411142C>A ENST00000330258.3 - 2 2297 c.2025G>T c.(2023-2025)caG>caT p.Q675H AMER1_ENST00000403336.1_Missense_Mutation_p.Q675H|AMER1_ENST00000374869.3_Missense_Mutation_p.Q675H NM_152424.3 NP_689637.3 APC membrane recruitment protein 1 p.0?(67) GGTGGGAAATCTGAGAGGTCC 0.587000 11 21 6.40141e-05 6.99725e-05 1 1 0 CDHR1 92211 broad.mit.edu 37 10 85956357 85956357 + Missense_Mutation SNP T T A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr10:85956357T>A ENST00000372117.3 + 3 351 c.248T>A c.(247-249)gTt>gAt p.V83D CDHR1_ENST00000332904.3_Missense_Mutation_p.V83D NM_033100.2 NP_149091.1 Q96JP9 CDHR1_HUMAN cadherin-related family member 1 83 Cadherin 1. homophilic cell adhesion calcium ion binding|receptor activity breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1) 36 GTCTTTTCTGTTGACCCCACT 0.562000 20 116 0 0 1 0 0 TCF20 6942 broad.mit.edu 37 22 42608028 42608028 + Missense_Mutation SNP T T G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr22:42608028T>G ENST00000359486.3 - 1 3420 c.3284A>C c.(3283-3285)gAg>gCg p.E1095A TCF20_ENST00000335626.4_Missense_Mutation_p.E1095A NM_005650.1 NP_005641.1 Q9UGU0 TCF20_HUMAN transcription factor 20 (AR1) 1095 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5) 66 TTTATACTCCTCTGGTTGCTG 0.512000 16 57 0 0 1 0 0 YY2 404281 broad.mit.edu 37 X 21874909 21874909 + Missense_Mutation SNP G G T rs147081325 TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chrX:21874909G>T ENST00000429584.2 + 1 805 c.307G>T c.(307-309)Gac>Tac p.D103Y MBTPS2_ENST00000379484.5_Intron|MBTPS2_ENST00000365779.2_Intron|MBTPS2_ENST00000465888.1_3'UTR NM_206923.3 NP_996806.2 O15391 TYY2_HUMAN YY2 transcription factor 103 D -> N (in a breast cancer sample; somatic mutation). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|plasma membrane DNA binding|zinc ion binding p.D103N(1) breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2) 19 CGACTTGGAGGACCAGTTGGC 0.562000 13 90 0.00185496 0.00194515 1 1 0 DSCC1 79075 broad.mit.edu 37 8 120859251 120859251 + Silent SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr8:120859251G>A ENST00000313655.4 - 4 770 c.556C>T c.(556-558)Cta>Tta p.L186L NM_024094.2 NP_076999.2 Q9BVC3 DCC1_HUMAN DNA replication and sister chromatid cohesion 1 186 DNA replication|maintenance of mitotic sister chromatid cohesion|post-translational protein acetylation|regulation of DNA replication chromatin|chromosome, centromeric region|nucleoplasm DNA binding|protein binding NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|pancreas(1) 9 Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00185) CAGGCATTTAGAACTTGTAAT 0.343000 6 30 0 0 1 0 0 OR2M2 391194 broad.mit.edu 37 1 248343686 248343686 + Silent SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:248343686C>A ENST00000359682.2 + 1 399 c.399C>A c.(397-399)acC>acA p.T133T NM_001004688.1 NP_001004688.1 Q96R28 OR2M2_HUMAN olfactory receptor, family 2, subfamily M, member 2 133 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3) 70 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) TAAGATATACCAATCTCATGA 0.393000 90 322 1.79992e-35 2.86734e-35 1 1 0 NINL 22981 broad.mit.edu 37 20 25491333 25491333 + Missense_Mutation SNP T T C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr20:25491333T>C ENST00000278886.6 - 5 567 c.494A>G c.(493-495)cAg>cGg p.Q165R NINL_ENST00000422516.1_Missense_Mutation_p.Q165R NM_025176.4 NP_079452.3 Q9Y2I6 NINL_HUMAN ninein-like 165 G2/M transition of mitotic cell cycle cytosol|microtubule|microtubule organizing center calcium ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 57 TAATTCATTCTGAGCTTCTTT 0.522000 18 86 0 0 1 0 0 LRRC4B 94030 broad.mit.edu 37 19 51021620 51021620 + Silent SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:51021620C>A ENST00000599957.1 - 3 1547 c.1350G>T c.(1348-1350)acG>acT p.T450T LRRC4B_ENST00000389201.3_Silent_p.T450T Q9NT99 LRC4B_HUMAN leucine rich repeat containing 4B 450 Ig-like C2-type. cell junction|integral to membrane|presynaptic membrane breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1) 30 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188) AGACGTTGAGCGTGGCCGAGG 0.706000 19 53 1.85244e-09 2.28927e-09 1 1 0 KIAA2026 158358 broad.mit.edu 37 9 5922726 5922726 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr9:5922726C>A ENST00000399933.3 - 8 3269 c.3270G>T c.(3268-3270)atG>atT p.M1090I KIAA2026_ENST00000381461.2_Missense_Mutation_p.M1060I NM_001017969.2 NP_001017969.2 Q5HYC2 K2026_HUMAN KIAA2026 1090 breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1) 46 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124) TAGGATCCACCATAGGCTGCA 0.383000 16 93 1.02788e-11 1.33577e-11 1 1 0 SP110 3431 broad.mit.edu 37 2 231077604 231077604 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr2:231077604C>A ENST00000258381.6 - 4 532 c.455G>T c.(454-456)tGt>tTt p.C152F SP110_ENST00000258382.5_Missense_Mutation_p.C152F|SP110_ENST00000540870.1_Missense_Mutation_p.C158F|SP110_ENST00000392048.3_Missense_Mutation_p.C152F|SP110_ENST00000338556.3_5'UTR|SP110_ENST00000358662.4_Missense_Mutation_p.C152F|SP110_ENST00000486146.2_5'UTR NM_080424.2 NP_536349.2 Q9HB58 SP110_HUMAN SP110 nuclear body protein 152 interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|signal transducer activity|zinc ion binding breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169) Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097) TCTTGGCGCACAGGGTGAACA 0.602000 46 103 2.29192e-23 3.47819e-23 1 1 0 DLG5 9231 broad.mit.edu 37 10 79584144 79584144 + Nonsense_Mutation SNP T T A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr10:79584144T>A ENST00000372391.2 - 14 2385 c.2380A>T c.(2380-2382)Aag>Tag p.K794* DLG5_ENST00000372388.2_Nonsense_Mutation_p.K794* NM_004747.3 NP_004738.3 Q8TDM6 DLG5_HUMAN discs, large homolog 5 (Drosophila) 794 PDZ 2. cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis cell junction|cytoplasm beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146) Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446) GCCCTTACCTTCAGGAGGGAC 0.567000 20 21 0 0 1 0 0 MYCBPAP 84073 broad.mit.edu 37 17 48596044 48596044 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr17:48596044G>A ENST00000323776.5 + 5 902 c.740G>A c.(739-741)cGt>cAt p.R247H MYCBPAP_ENST00000436259.2_Missense_Mutation_p.R210H NM_032133.4 NP_115509.4 Q8TBZ2 MYBPP_HUMAN MYCBP associated protein 210 cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission cytoplasm|membrane protein binding breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2) 31 Breast(11;1.23e-18) BRCA - Breast invasive adenocarcinoma(22;1.23e-09) AACTGGCAGCGTAACACAGCC 0.587000 14 163 0 0 1 0 0 POU2F1 5451 broad.mit.edu 37 1 167368544 167368544 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:167368544G>T ENST00000367862.5 + 12 1593 c.1358G>T c.(1357-1359)aGc>aTc p.S453I POU2F1_ENST00000367866.2_Missense_Mutation_p.S464I|POU2F1_ENST00000420254.3_Missense_Mutation_p.S441I|POU2F1_ENST00000429375.2_Missense_Mutation_p.S401I|POU2F1_ENST00000541643.3_Missense_Mutation_p.S441I|POU2F1_ENST00000367865.1_3'UTR NM_001198783.1 NP_001185712.1 P14859 PO2F1_HUMAN POU class 2 homeobox 1 441 negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 30 AACCCACCAAGCAGTGGTGGG 0.438000 33 113 3.66082e-28 5.69038e-28 1 1 0 COMMD4 54939 broad.mit.edu 37 15 75631427 75631427 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr15:75631427C>A ENST00000267935.8 + 5 482 c.283C>A c.(283-285)Cag>Aag p.Q95K COMMD4_ENST00000564815.1_Missense_Mutation_p.Q73K|COMMD4_ENST00000338995.6_Missense_Mutation_p.Q95K|COMMD4_ENST00000567195.1_Missense_Mutation_p.Q95K|COMMD4_ENST00000562789.1_Missense_Mutation_p.Q101K NM_017828.3 NP_060298.2 Q9H0A8 COMD4_HUMAN COMM domain containing 4 95 cytoplasm protein binding breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(1)|prostate(1) 10 TGAACTGCAGCAGCTGGGGCT 0.622000 46 97 1.30409e-13 1.75259e-13 1 1 0 ZFP41 286128 broad.mit.edu 37 8 144332049 144332049 + Silent SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr8:144332049G>A ENST00000330701.4 + 2 405 c.36G>A c.(34-36)ccG>ccA p.P12P ZFP41_ENST00000522452.1_Silent_p.P12P|ZFP41_ENST00000520584.1_Silent_p.P12P NM_173832.3 NP_776193.1 Q8N8Y5 ZFP41_HUMAN ZFP41 zinc finger protein 12 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|lung(4)|ovary(1) 8 all_cancers(97;1.01e-10)|all_epithelial(106;4.6e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173) AGAAGACGCCGACCCCAAGGG 0.597000 5 25 0 0 1 0 0 KCNN4 3783 broad.mit.edu 37 19 44271811 44271811 + Silent SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:44271811G>T ENST00000262888.3 - 8 1563 c.1168C>A c.(1168-1170)Cgg>Agg p.R390R NM_002250.2 NP_002241.1 O15554 KCNN4_HUMAN potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4 390 defense response voltage-gated potassium channel complex calcium-activated potassium channel activity|calmodulin binding p.R390W(1) biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 15 Prostate(69;0.0352) Clotrimazole(DB00257)|Halothane(DB01159)|Quinine(DB00468) TCCAGGGCCCGGTGTGAGCTG 0.622000 24 89 4.7796e-09 5.81065e-09 1 1 0 TRRAP 8295 broad.mit.edu 37 7 98574333 98574333 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr7:98574333G>T ENST00000359863.4 + 54 8375 c.8166G>T c.(8164-8166)caG>caT p.Q2722H TRRAP_ENST00000446306.3_Missense_Mutation_p.Q2704H|TRRAP_ENST00000355540.3_Missense_Mutation_p.Q2704H NM_001244580.1 NP_001231509.1 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated protein 2722 FAT. histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2) 176 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) TGAGTCTTCAGATTAAGCCGA 0.542000 9 77 1.12685e-05 1.25998e-05 1 1 0 PC 5091 broad.mit.edu 37 11 66616775 66616775 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:66616775C>T ENST00000393960.1 - 22 3495 c.3214G>A c.(3214-3216)Ggc>Agc p.G1072S PC_ENST00000528224.1_5'UTR|PC_ENST00000529047.1_Missense_Mutation_p.G192S|PC_ENST00000393958.2_Missense_Mutation_p.G1072S|PC_ENST00000393955.2_Missense_Mutation_p.G1072S NM_001040716.1 NP_001035806.1 P11498 PYC_HUMAN pyruvate carboxylase 1072 gluconeogenesis|lipid biosynthetic process mitochondrial matrix ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Melanoma(852;0.0525) Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227) Biotin(DB00121)|Pyruvic acid(DB00119) TGCCTCTGGCCGGCCCGGTTC 0.637000 14 70 0 0 1 0 0 EP300 2033 broad.mit.edu 37 22 41527619 41527619 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr22:41527619C>T ENST00000263253.7 + 6 2729 c.1510C>T c.(1510-1512)Cgg>Tgg p.R504W NM_001429.3 NP_001420.2 Q09472 EP300_HUMAN E1A binding protein p300 504 apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia centrosome|histone acetyltransferase complex androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16) 171 CCAAGGCATGCGGCCCATGAG 0.458000 """T, N, F, Mis, O""" """MLL, RUNXBP2""" """colorectal, breast, pancreatic, AML, ALL, DLBCL""" Rubinstein-Taybi syndrome 4 124 0 0 1 0 0 SEC16A 9919 broad.mit.edu 37 9 139357393 139357393 + Silent SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr9:139357393C>T ENST00000313050.7 - 10 4912 c.4839G>A c.(4837-4839)tcG>tcA p.S1613S SEC16A_ENST00000371706.3_Silent_p.S1435S|SEC16A_ENST00000290037.6_Silent_p.S1435S|SEC16A_ENST00000431893.2_Silent_p.S1435S NM_014866.1 NP_055681.1 O15027 SC16A_HUMAN SEC16 homolog A (S. cerevisiae) 1435 protein transport|vesicle-mediated transport endoplasmic reticulum membrane|Golgi membrane breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Myeloproliferative disorder(178;0.0511) Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06) CTCTCTCGAGCGAGCTGGCGG 0.607000 16 64 0 0 1 0 0 PTPRR 5801 broad.mit.edu 37 12 71286551 71286551 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr12:71286551C>A ENST00000283228.2 - 2 717 c.265G>T c.(265-267)Gca>Tca p.A89S NM_002849.3 NP_002840.2 Q15256 PTPRR_HUMAN protein tyrosine phosphatase, receptor type, R 89 in utero embryonic development cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 41 GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132) COAD - Colon adenocarcinoma(1;0.136) GGGTCATATGCGGGTCTAGGA 0.453000 40 101 2.52449e-32 3.99043e-32 1 1 0 TTN 7273 broad.mit.edu 37 2 179542560 179542560 + Missense_Mutation SNP T T A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr2:179542560T>A ENST00000589042.1 - 146 34303 c.34079A>T c.(34078-34080)gAa>gTa p.E11360V TTN_ENST00000591111.1_Missense_Mutation_p.E11043V|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.E10116V|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 11043 Glu-rich.|Pro-rich. 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) AACTTCCTCTTCAGGAACAAT 0.413000 40 89 0 0 1 0 0 LPPR2 64748 broad.mit.edu 37 19 11470244 11470244 + Missense_Mutation SNP C C T rs144674599 TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:11470244C>T ENST00000251473.5 + 4 479 c.103C>T c.(103-105)Cgc>Tgc p.R35C DKFZP761J1410_ENST00000586431.1_3'UTR|DKFZP761J1410_ENST00000591608.1_Intron NM_001170635.1|NM_022737.2 NP_001164106.1|NP_073574.2 GCTTGCTTACCGCCTGGAGTT 0.622000 12 61 0 0 1 0 0 C11orf16 56673 broad.mit.edu 37 11 8948517 8948517 + Missense_Mutation SNP A A C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:8948517A>C ENST00000326053.5 - 4 635 c.529T>G c.(529-531)Ttg>Gtg p.L177V C11orf16_ENST00000525780.1_Missense_Mutation_p.L177V NM_020643.2 NP_065694.2 Q9NQ32 CK016_HUMAN chromosome 11 open reading frame 16 177 central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1) 22 Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234) TCCAAGCCCAAAAGAACAGTG 0.562000 23 36 0 0 1 0 0 CAMSAP3 57662 broad.mit.edu 37 19 7670159 7670159 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:7670159G>A ENST00000446248.2 + 2 297 c.196G>A c.(196-198)Gcg>Acg p.A66T CAMSAP3_ENST00000160298.4_Missense_Mutation_p.A66T NM_001080429.2 NP_001073898.1 Q9P1Y5 CAMP3_HUMAN calmodulin regulated spectrin-associated protein family, member 3 66 epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance cytoplasm|microtubule|zonula adherens microtubule minus-end binding cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2) 19 CGACCAGTACGCGCAGGAGCA 0.637000 34 234 0 0 1 0 0 GNAL 2774 broad.mit.edu 37 18 11868660 11868660 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr18:11868660C>A ENST00000334049.6 + 9 1637 c.1029C>A c.(1027-1029)aaC>aaA p.N343K GNAL_ENST00000423027.3_Missense_Mutation_p.N266K|GNAL_ENST00000269162.5_Missense_Mutation_p.N266K|GNAL_ENST00000602628.1_Missense_Mutation_p.N59K|GNAL_ENST00000535980.1_3'UTR|GNAL_ENST00000535121.1_Missense_Mutation_p.N266K NM_182978.3 NP_892023.1 P38405 GNAL_HUMAN guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type 266 activation of adenylate cyclase activity by dopamine receptor signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception of smell|synaptic transmission heterotrimeric G-protein complex adenylate cyclase activity|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1) 12 TCTGGAACAACAGGTGACAAA 0.433000 10 50 0.000673444 0.000712181 1 1 0 S1PR4 8698 broad.mit.edu 37 19 3179224 3179224 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:3179224C>T ENST00000246115.3 + 1 489 c.434C>T c.(433-435)gCc>gTc p.A145V S1PR4_ENST00000591346.1_3'UTR NM_003775.3 NP_003766.1 O95977 S1PR4_HUMAN sphingosine-1-phosphate receptor 4 145 activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|immune response integral to plasma membrane lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity breast(1)|kidney(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 13 GAGCGCTTTGCCACCATGGTG 0.706000 40 68 0 0 1 0 0 ANO9 338440 broad.mit.edu 37 11 433392 433392 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:433392C>T ENST00000332826.6 - 4 356 c.272G>A c.(271-273)cGc>cAc p.R91H NM_001012302.2 NP_001012302.2 A1A5B4 ANO9_HUMAN anoctamin 9 91 chloride channel complex chloride channel activity central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4) 21 GAGGAAAGTGCGGTACAGGCC 0.642000 21 104 0 0 1 0 0 SPTA1 6708 broad.mit.edu 37 1 158596004 158596004 + Missense_Mutation SNP C C G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:158596004C>G ENST00000368148.3 - 42 6022 c.5842G>C c.(5842-5844)Gaa>Caa p.E1948Q SPTA1_ENST00000461624.1_5'UTR|SPTA1_ENST00000368147.3_Missense_Mutation_p.E1945Q NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 1948 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) AGGCTTGTTTCCTTATCAGCT 0.403000 14 61 0 0 1 0 0 CC2D1A 54862 broad.mit.edu 37 19 14030640 14030640 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:14030640C>A ENST00000318003.7 + 12 1473 c.1232C>A c.(1231-1233)cCa>cAa p.P411Q CC2D1A_ENST00000589606.1_Missense_Mutation_p.P411Q NM_017721.4 NP_060191.3 Q6P1N0 C2D1A_HUMAN coiled-coil and C2 domain containing 1A 411 positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus|plasma membrane DNA binding|signal transducer activity NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2) 27 OV - Ovarian serous cystadenocarcinoma(19;3.49e-23) GGCTTCCCCCCAATCCAGGGC 0.592000 23 47 1.10923e-09 1.37307e-09 1 1 0 FAM194A 131831 broad.mit.edu 37 3 150416635 150416635 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr3:150416635C>A ENST00000295910.6 - 3 548 c.496G>T c.(496-498)Gta>Tta p.V166L FAM194A_ENST00000491361.1_Missense_Mutation_p.V20L NM_152394.3 NP_689607.2 Q7L0X2 F194A_HUMAN family with sequence similarity 194, member A 166 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 38 TGTACTGATACTGGAATTCCT 0.368000 35 97 6.29468e-14 8.5311e-14 1 1 0 SUPT5H 6829 broad.mit.edu 37 19 39955569 39955569 + Missense_Mutation SNP G G C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:39955569G>C ENST00000599117.1 + 12 1123 c.756G>C c.(754-756)caG>caC p.Q252H SUPT5H_ENST00000598725.1_Missense_Mutation_p.Q252H|SUPT5H_ENST00000359191.6_Missense_Mutation_p.Q248H|SUPT5H_ENST00000432763.2_Missense_Mutation_p.Q252H|SUPT5H_ENST00000402194.2_Missense_Mutation_p.Q248H O00267 SPT5H_HUMAN suppressor of Ty 5 homolog (S. cerevisiae) 252 Interaction with SUPT4H1. cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter nucleoplasm enzyme binding|protein heterodimerization activity breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 51 all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159) Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657) ACTGGAACCAGCAGATGGTGC 0.582000 45 93 0 0 1 0 0 TP63 8626 broad.mit.edu 37 3 189587169 189587169 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr3:189587169C>A ENST00000264731.3 + 9 1275 c.1186C>A c.(1186-1188)Cca>Aca p.P396T TP63_ENST00000440651.2_Missense_Mutation_p.P392T|TP63_ENST00000392460.3_Missense_Mutation_p.P396T|TP63_ENST00000449992.1_Missense_Mutation_p.P217T|TP63_ENST00000392461.3_Missense_Mutation_p.P302T|TP63_ENST00000418709.2_Missense_Mutation_p.P396T|TP63_ENST00000382063.4_Missense_Mutation_p.P311T|TP63_ENST00000392463.2_Missense_Mutation_p.P302T|TP63_ENST00000437221.1_Missense_Mutation_p.P302T|TP63_ENST00000320472.5_Missense_Mutation_p.P396T|TP63_ENST00000354600.5_Missense_Mutation_p.P302T|TP63_ENST00000456148.1_Missense_Mutation_p.P298T NM_001114978.1|NM_003722.4 NP_001108450.1|NP_003713.3 Q9H3D4 P63_HUMAN tumor protein p63 396 Oligomerization. anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6) 61 all_cancers(143;3.35e-10)|Ovarian(172;0.0925) Lung(62;3.33e-05) GBM - Glioblastoma multiforme(93;0.0227) ACGAAGATCCCCAGATGATGA 0.413000 HNSCC(45;0.13) 12 27 0.000219431 0.000236741 1 1 0 TPX2 22974 broad.mit.edu 37 20 30365315 30365315 + Silent SNP C C T rs142446283 TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr20:30365315C>T ENST00000340513.4 + 9 1284 c.756C>T c.(754-756)agC>agT p.S252S TPX2_ENST00000300403.6_Silent_p.S252S Q9ULW0 TPX2_HUMAN TPX2, microtubule-associated 252 activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization cytoplasm|microtubule|nucleus|spindle pole ATP binding|GTP binding|protein kinase binding cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 28 Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656) AATCAGTGAGCCAGGTCACCA 0.428000 11 66 0 0 1 0 0 LTBP2 4053 broad.mit.edu 37 14 74995224 74995224 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr14:74995224G>A ENST00000261978.4 - 12 2716 c.2330C>T c.(2329-2331)aCg>aTg p.T777M LTBP2_ENST00000556690.1_Missense_Mutation_p.T777M NM_000428.2 NP_000419.1 Q14767 LTBP2_HUMAN latent transforming growth factor beta binding protein 2 777 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) CCAGGTGTCCGTGACGACCCG 0.652000 11 95 0 0 1 0 0 OR2AG2 338755 broad.mit.edu 37 11 6789864 6789864 + Missense_Mutation SNP T T C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:6789864T>C ENST00000338569.2 - 1 422 c.325A>G c.(325-327)Agc>Ggc p.S109G NM_001004490.1 NP_001004490.1 A6NM03 O2AG2_HUMAN olfactory receptor, family 2, subfamily AG, member 2 109 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(13)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1) 28 Medulloblastoma(188;0.00776)|all_neural(188;0.0652) Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) TCCTCAGCGCTACCCATTGTC 0.522000 8 74 0 0 1 0 0 OR5H1 26341 broad.mit.edu 37 3 97852029 97852029 + Nonsense_Mutation SNP T T A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr3:97852029T>A ENST00000354565.2 + 1 488 c.488T>A c.(487-489)tTa>tAa p.L163* RP11-343D2.11_ENST00000508964.1_RNA NM_001005338.1 NP_001005338.1 A6NKK0 OR5H1_HUMAN olfactory receptor, family 5, subfamily H, member 1 163 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1) 34 GAAGGATTTTTATTCAGACTA 0.343000 17 33 0 0 1 0 0 ZNF208 7757 broad.mit.edu 37 19 22156967 22156967 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:22156967C>A ENST00000397126.4 - 4 1017 c.869G>T c.(868-870)tGt>tTt p.C290F ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron NM_007153.3 NP_009084.2 zinc finger protein 208 breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 113 all_lung(12;0.0961)|Lung NSC(12;0.103) GGCTTTGCCACATTCTTCACA 0.388000 6 49 3.59834e-05 3.95641e-05 1 1 0 ZNF667 63934 broad.mit.edu 37 19 56954083 56954083 + Missense_Mutation SNP T T G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:56954083T>G ENST00000504904.3 - 7 1000 c.281A>C c.(280-282)aAg>aCg p.K94T ZNF667_ENST00000342634.3_Missense_Mutation_p.K222T|ZNF667_ENST00000591790.1_3'UTR|ZNF667_ENST00000292069.6_Missense_Mutation_p.K94T Q5HYK9 ZN667_HUMAN zinc finger protein 667 94 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3) 38 Colorectal(82;0.000256)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0615) TGGAGGTAACTTCTTGGTCTC 0.378000 15 68 0 0 1 0 0 NEIL3 55247 broad.mit.edu 37 4 178272593 178272593 + Missense_Mutation SNP T T C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr4:178272593T>C ENST00000264596.3 + 7 1047 c.929T>C c.(928-930)aTg>aCg p.M310T RP11-376O6.2_ENST00000506895.1_RNA NM_018248.2 NP_060718.2 Q8TAT5 NEIL3_HUMAN nei endonuclease VIII-like 3 (E. coli) 310 base-excision repair|nucleotide-excision repair nucleus bubble DNA binding|damaged DNA binding|DNA N-glycosylase activity|DNA-(apurinic or apyrimidinic site) lyase activity|double-stranded DNA binding|single-stranded DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 29 Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164) all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191) GATCATGTTATGGACTCCGTG 0.408000 Base excision repair (BER), DNA glycosylases 30 72 0 0 1 0 0 WNT11 7481 broad.mit.edu 37 11 75902797 75902797 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:75902797G>A ENST00000322563.3 - 4 825 c.701C>T c.(700-702)gCt>gTt p.A234V RP11-619A14.2_ENST00000527314.1_RNA NM_004626.2 NP_004617.2 O96014 WNT11_HUMAN wingless-type MMTV integration site family, member 11 234 adrenal gland development|anterior/posterior pattern formation|artery morphogenesis|axis specification|bone mineralization|cellular response to retinoic acid|cloacal septation|embryonic skeletal system development|endoderm development|lung-associated mesenchyme development|mesonephric duct development|negative regulation of apoptosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell migration|negative regulation of transcription, DNA-dependent|neuroendocrine cell differentiation|neuron differentiation|osteoblast differentiation|outflow tract morphogenesis|palate development|positive regulation of cell migration|positive regulation of protein kinase C signaling cascade|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor-beta2 production|protein localization at cell surface|protein phosphorylation|tight junction assembly|ureteric bud morphogenesis|ventricular septum morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix G-protein-coupled receptor binding|protein kinase activator activity|Ras GTPase activator activity|transcription regulatory region DNA binding breast(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 20 GAGGTCAGCAGCCACATCCTG 0.627000 31 132 0 0 1 0 0 KCTD13 253980 broad.mit.edu 37 16 29937168 29937168 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr16:29937168C>T ENST00000568000.1 - 1 1188 c.187G>A c.(187-189)Gac>Aac p.D63N KCTD13_ENST00000568721.1_5'UTR|KCTD13_ENST00000561540.1_Missense_Mutation_p.D63N NM_178863.3 NP_849194.1 Q8WZ19 BACD1_HUMAN potassium channel tetramerization domain containing 13 63 BTB. cell migration|DNA replication|negative regulation of Rho protein signal transduction|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|stress fiber assembly Cul3-RING ubiquitin ligase complex|nucleus|voltage-gated potassium channel complex GTP-Rho binding|voltage-gated potassium channel activity breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(2) 7 AGCATGGTGTCCTGTCCCGTG 0.657000 17 58 0 0 1 0 0 DDIT4 54541 broad.mit.edu 37 10 74034516 74034516 + Missense_Mutation SNP A A G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr10:74034516A>G ENST00000307365.3 + 3 470 c.269A>G c.(268-270)gAa>gGa p.E90G NM_019058.2 NP_061931.1 Q9NX09 DDIT4_HUMAN DNA-damage-inducible transcript 4 90 apoptosis cervix(1)|endometrium(2)|lung(5)|pancreas(1)|prostate(2)|urinary_tract(1) 12 CCTGAGGATGAACACTTGTGT 0.622000 OREG0020262 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 38 261 0 0 1 0 0 FOXB2 442425 broad.mit.edu 37 9 79634932 79634932 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr9:79634932C>T ENST00000376708.1 + 1 362 c.362C>T c.(361-363)gCg>gTg p.A121V NM_001013735.1 NP_001013757.1 Q5VYV0 FOXB2_HUMAN forkhead box B2 121 brain development|embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding breast(1)|lung(8)|ovary(1) 10 CACTTGCACGCGGGAAGCACC 0.687000 13 40 0 0 1 0 0 FAM171A1 221061 broad.mit.edu 37 10 15256602 15256602 + Splice_Site SNP T T A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr10:15256602T>A ENST00000378116.4 - 8 993 c.e8-2 FAM171A1_ENST00000477161.1_Splice_Site NM_001010924.1 NP_001010924.1 Q5VUB5 F1711_HUMAN family with sequence similarity 171, member A1 integral to membrane breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 52 CACTTCCTCCTGCGCCCAAAG 0.453000 11 28 0 0 1 0 0 TINAG 27283 broad.mit.edu 37 6 54214648 54214648 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr6:54214648C>A ENST00000259782.4 + 7 1130 c.1034C>A c.(1033-1035)tCt>tAt p.S345Y NM_014464.3 NP_055279.3 Q9UJW2 TINAG_HUMAN tubulointerstitial nephritis antigen 345 cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis basement membrane cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1) 34 Lung NSC(77;0.0518) LUSC - Lung squamous cell carcinoma(124;0.246) GTAGAAAAATCTAACAGGATC 0.433000 7 48 0.000157383 0.000170454 1 1 0 ERBB4 2066 broad.mit.edu 37 2 212248542 212248542 + Missense_Mutation SNP T T A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr2:212248542T>A ENST00000342788.4 - 28 4035 c.3725A>T c.(3724-3726)tAc>tTc p.Y1242F ERBB4_ENST00000436443.1_Missense_Mutation_p.Y1226F|ERBB4_ENST00000402597.1_Missense_Mutation_p.Y1232F NM_005235.2 NP_005226.1 Q15303 ERBB4_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4 1242 cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 179 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) GTGGTTCCAGTAGTCAGGGTT 0.498000 TSP Lung(8;0.080) 47 86 0 0 1 0 0 CYP4F8 11283 broad.mit.edu 37 19 15728948 15728948 + RNA SNP T T G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:15728948T>G ENST00000441682.2 + 0 400 P98187 CP4F8_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 8 prostaglandin metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1) 26 CTGTCATCAATACCTCAGGTA 0.552000 47 99 0 0 1 0 0 OR8B12 219858 broad.mit.edu 37 11 124413269 124413269 + Silent SNP T T A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:124413269T>A ENST00000306842.2 - 1 306 c.282A>T c.(280-282)acA>acT p.T94T NM_001005195.1 NP_001005195.1 Q8NGG6 OR8BC_HUMAN olfactory receptor, family 8, subfamily B, member 12 94 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213) TCATACACCCTGTGAAGGAAA 0.443000 18 72 0 0 1 0 0 ALPK1 80216 broad.mit.edu 37 4 113353213 113353213 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr4:113353213G>A ENST00000458497.1 + 11 2789 c.2510G>A c.(2509-2511)gGc>gAc p.G837D ALPK1_ENST00000504176.2_Missense_Mutation_p.G759D|ALPK1_ENST00000177648.9_Missense_Mutation_p.G837D NM_001102406.1|NM_025144.3 NP_001095876.1|NP_079420.3 Q96QP1 ALPK1_HUMAN alpha-kinase 1 837 ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1) 53 Ovarian(17;0.0446)|Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00325) AAAAGTGGTGGCCCAGTCGCA 0.552000 7 25 0 0 1 0 0 CYP2A13 1553 broad.mit.edu 37 19 41596036 41596036 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:41596036G>A ENST00000330436.3 + 3 428 c.428G>A c.(427-429)cGc>cAc p.R143H NM_000766.4 NP_000757.2 Q16696 CP2AD_HUMAN cytochrome P450, family 2, subfamily A, polypeptide 13 143 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding p.R143H(1) breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2) 42 Clomipramine(DB01242)|Nicotine(DB00184) GTGGGCAAGCGCGGCATCGAG 0.697000 13 63 0 0 1 0 0 MOGAT1 116255 broad.mit.edu 37 2 223574454 223574454 + Splice_Site SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr2:223574454G>T ENST00000446656.3 + 6 853 c.e6-1 NM_058165.2 NP_477513.2 Q96PD6 MOGT1_HUMAN monoacylglycerol O-acyltransferase 1 glycerol metabolic process endoplasmic reticulum membrane|integral to membrane 2-acylglycerol O-acyltransferase activity breast(1)|cervix(1)|endometrium(1)|lung(5)|urinary_tract(1) 9 Renal(207;0.0183) Epithelial(121;4.13e-10)|all cancers(144;2.06e-07)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0105) CTGATTTGCAGTTGGCCGCCC 0.498000 65 138 1.2582e-26 1.93696e-26 1 1 0 GLRA2 2742 broad.mit.edu 37 X 14748354 14748354 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chrX:14748354G>A ENST00000218075.4 + 9 1636 c.1106G>A c.(1105-1107)cGt>cAt p.R369H GLRA2_ENST00000355020.4_Missense_Mutation_p.R369H|GLRA2_ENST00000443437.2_Missense_Mutation_p.R280H NM_002063.3 NP_002054.1 P23416 GLRA2_HUMAN glycine receptor, alpha 2 369 neuropeptide signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2) 37 Hepatocellular(33;0.128) Ethanol(DB00898)|Glycine(DB00145) CGTGAAAGTCGTTTTAATTTT 0.453000 60 300 0 0 1 0 0 SRSF4 6429 broad.mit.edu 37 1 29475146 29475146 + Nonsense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:29475146C>A ENST00000373795.4 - 6 1495 c.1261G>T c.(1261-1263)Gaa>Taa p.E421* SRSF4_ENST00000546138.1_3'UTR NM_005626.4 NP_005617.2 Q08170 SRSF4_HUMAN serine/arginine-rich splicing factor 4 421 Arg/Ser-rich (RS domain). mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription nuclear speck nucleotide binding|RNA binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(1) 27 TGGCTGGATTCAGACTTGGCA 0.557000 103 250 1.62254e-48 2.62959e-48 1 1 0 MYO18B 84700 broad.mit.edu 37 22 26351272 26351272 + Missense_Mutation SNP C C G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr22:26351272C>G ENST00000335473.7 + 39 6348 c.6098C>G c.(6097-6099)gCc>gGc p.A2033G MYO18B_ENST00000407587.2_Missense_Mutation_p.A2034G|MYO18B_ENST00000536101.1_Missense_Mutation_p.A2033G NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 2033 Tail. nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 GAGCTGAAGGCCGACATGGAA 0.642000 32 45 0 0 1 0 0 FOXG1 2290 broad.mit.edu 37 14 29237187 29237187 + Silent SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr14:29237187C>A ENST00000382535.3 + 2 1071 c.702C>A c.(700-702)tcC>tcA p.S234S FOXG1_ENST00000313071.4_Silent_p.S234S P55316 FOXG1_HUMAN forkhead box G1 234 axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2) 43 LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575) GBM - Glioblastoma multiforme(265;0.00413) ACAATCTGTCCCTCAACAAGT 0.587000 18 42 7.41877e-09 8.95685e-09 1 1 0 UGGT1 56886 broad.mit.edu 37 2 128918775 128918775 + Missense_Mutation SNP A A G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr2:128918775A>G ENST00000375990.3 + 25 3089 c.2686A>G c.(2686-2688)Atc>Gtc p.I896V UGGT1_ENST00000259253.6_Missense_Mutation_p.I920V Q9NYU2 UGGG1_HUMAN UDP-glucose glycoprotein glucosyltransferase 1 920 'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen|ER-Golgi intermediate compartment UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 63 CCTCGAAAATATCATCTTAAA 0.423000 37 82 0 0 1 0 0 SLC25A13 10165 broad.mit.edu 37 7 95775912 95775912 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr7:95775912C>A ENST00000416240.2 - 14 1601 c.1411G>T c.(1411-1413)Gct>Tct p.A471S SLC25A13_ENST00000542654.1_Missense_Mutation_p.A362S|SLC25A13_ENST00000265631.5_Missense_Mutation_p.A470S NM_001160210.1|NM_014251.2 NP_001153682.1|NP_055066.1 Q9UJS0 CMC2_HUMAN solute carrier family 25 (aspartate/glutamate carrier), member 13 470 ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion integral to plasma membrane|mitochondrial inner membrane calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4) 42 all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07) STAD - Stomach adenocarcinoma(171;0.194) L-Aspartic Acid(DB00128) ACAGACAGAGCACTGACTCGA 0.428000 83 138 1.17611e-34 1.86828e-34 1 1 0 USP6NL 9712 broad.mit.edu 37 10 11505388 11505388 + Silent SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr10:11505388G>T ENST00000379237.1 - 15 1933 c.1539C>A c.(1537-1539)ccC>ccA p.P513P USP6NL_ENST00000277575.5_Silent_p.P530P NM_014688.2 NP_055503.1 Q92738 US6NL_HUMAN USP6 N-terminal like 513 intracellular Rab GTPase activator activity endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1) 32 CTGCGAGCGCGGGGTGCGCTG 0.592000 89 230 2.18481e-45 3.53064e-45 1 1 0 HTR1E 3354 broad.mit.edu 37 6 87725998 87725998 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr6:87725998C>A ENST00000305344.4 + 2 1649 c.946C>A c.(946-948)Ctg>Atg p.L316M HTR1E_ENST00000369584.1_Missense_Mutation_p.L316M NM_000865.2 NP_000856.1 P28566 5HT1E_HUMAN 5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled 316 G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane protein binding|serotonin binding|serotonin receptor activity breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3) 41 all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819) BRCA - Breast invasive adenocarcinoma(108;0.055) Eletriptan(DB00216) GATTGTGGGTCTGAGCATCTA 0.493000 50 64 1.00221e-16 1.42637e-16 1 1 0 COL4A2 1284 broad.mit.edu 37 13 111092173 111092173 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr13:111092173G>T ENST00000360467.5 + 16 1256 c.950G>T c.(949-951)gGa>gTa p.G317V NM_001846.2 NP_001837.2 P08572 CO4A2_HUMAN collagen, type IV, alpha 2 317 Triple-helical region. angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis collagen type IV extracellular matrix structural constituent|protein binding NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922) Breast(118;0.212) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151) GGATCACCAGGACAGAAGGTA 0.458000 6 48 0.00307968 0.00321738 1 1 0 KCNN1 3780 broad.mit.edu 37 19 18092887 18092887 + RNA SNP A A G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:18092887A>G ENST00000601725.1 + 0 503 GCTGGTCTTCAGCATCTCCTC 0.667000 8 11 0 0 1 0 0 FCHSD1 89848 broad.mit.edu 37 5 141021280 141021280 + Nonsense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr5:141021280G>A ENST00000435817.2 - 19 2046 c.1996C>T c.(1996-1998)Cga>Tga p.R666* FCHSD1_ENST00000523856.1_5'UTR|FCHSD1_ENST00000522783.1_3'UTR|FCHSD1_ENST00000522126.1_3'UTR NM_033449.2 NP_258260.1 Q86WN1 FCSD1_HUMAN FCH and double SH3 domains 1 666 Pro-rich. FCHSD1/BRAF(2) central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGCCTGAGTCGAGGTGCCATC 0.502000 3 16 0 0 1 0 0 CLEC17A 388512 broad.mit.edu 37 19 14707960 14707960 + Silent SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:14707960G>T ENST00000547437.1 + 10 710 c.633G>T c.(631-633)acG>acT p.T211T CLEC17A_ENST00000417570.1_Silent_p.T211T|CLEC17A_ENST00000397439.2_Silent_p.T194T NM_207390.3 NP_997273.3 Q6ZS10 CL17A_HUMAN C-type lectin domain family 17, member A 211 cell surface|integral to membrane fucose binding|mannose binding|metal ion binding|receptor activity AGCAGATGACGTGGCGAACAA 0.488000 7 14 0.335167 0.336217 1 1 0 KCNU1 157855 broad.mit.edu 37 8 36768597 36768597 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr8:36768597G>T ENST00000399881.3 + 22 2518 c.2481G>T c.(2479-2481)ttG>ttT p.L827F NM_001031836.2 NP_001027006.2 A8MYU2 KCNU1_HUMAN potassium channel, subfamily U, member 1 827 voltage-gated potassium channel complex binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1) 57 KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634) TCGGATCCTTGCAAATTGACT 0.502000 15 21 9.16793e-09 1.10498e-08 1 1 0 HMGCS1 3157 broad.mit.edu 37 5 43292707 43292707 + Missense_Mutation SNP G G C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr5:43292707G>C ENST00000325110.6 - 10 1548 c.1342C>G c.(1342-1344)Ctc>Gtc p.L448V HMGCS1_ENST00000433297.2_Missense_Mutation_p.L448V NM_001098272.2 NP_001091742.1 Q01581 HMCS1_HUMAN 3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble) 448 cholesterol biosynthetic process|isoprenoid biosynthetic process cytosol|soluble fraction hydroxymethylglutaryl-CoA synthase activity NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|stomach(1)|urinary_tract(1) 15 CCTTCAAAGAGTGAATCTATT 0.393000 7 116 0 0 1 0 0 PPP2R3A 5523 broad.mit.edu 37 3 135806729 135806729 + Silent SNP A A G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr3:135806729A>G ENST00000264977.3 + 9 3410 c.2793A>G c.(2791-2793)tcA>tcG p.S931S PPP2R3A_ENST00000490467.1_Silent_p.S195S|PPP2R3A_ENST00000334546.2_Silent_p.S310S NM_001190447.1|NM_002718.4 NP_001177376.1|NP_002709.2 Q06190 P2R3A_HUMAN protein phosphatase 2, regulatory subunit B'', alpha 931 protein dephosphorylation protein phosphatase type 2A complex calcium ion binding|protein binding|protein phosphatase type 2A regulator activity breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 ATTTAGCTTCATCAAGCAGGA 0.318000 11 46 0 0 1 0 0 HELZ2 85441 broad.mit.edu 37 20 62193247 62193247 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr20:62193247C>A ENST00000467148.1 - 11 6689 c.6620G>T c.(6619-6621)gGg>gTg p.G2207V HELZ2_ENST00000427522.2_Missense_Mutation_p.G1638V NM_001037335.2 NP_001032412.2 helicase with zinc finger 2, transcriptional coactivator CCGCTTCTCCCCACGGGGGGG 0.647000 7 12 2.0095e-06 2.29496e-06 1 1 0 BAGE2 85319 broad.mit.edu 37 21 11038941 11038941 + RNA SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr21:11038941C>A ENST00000470054.1 - 0 1262 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) CTTATGTCTGCTGATAATGAA 0.423000 20 367 0.00047179 0.000502719 1 1 0 PCDH19 57526 broad.mit.edu 37 X 99657785 99657785 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chrX:99657785C>A ENST00000373034.4 - 3 4028 c.2353G>T c.(2353-2355)Gac>Tac p.D785Y PCDH19_ENST00000420881.2_Missense_Mutation_p.D738Y|PCDH19_ENST00000255531.7_Missense_Mutation_p.D738Y NM_001184880.1 NP_001171809.1 Q8TAB3 PCD19_HUMAN protocadherin 19 785 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 68 AGGCGGATGTCATTCTTACTG 0.448000 15 25 1.05317e-09 1.30512e-09 1 1 0 KCNK2 3776 broad.mit.edu 37 1 215259847 215259847 + Silent SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:215259847G>T ENST00000444842.2 + 2 333 c.183G>T c.(181-183)acG>acT p.T61T KCNK2_ENST00000391895.2_Silent_p.T57T|KCNK2_ENST00000391894.2_Silent_p.T46T NM_001017425.2|NM_014217.3 NP_001017425.2|NP_055032.1 O95069 KCNK2_HUMAN potassium channel, subfamily K, member 2 61 outward rectifier potassium channel activity p.T46T(1) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1) 30 OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068) Dofetilide(DB00204) AATGGAAGACGGTCTCCACGA 0.507000 15 54 6.72482e-11 8.5752e-11 1 1 0 INSRR 3645 broad.mit.edu 37 1 156823735 156823735 + Missense_Mutation SNP T T C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:156823735T>C ENST00000368195.3 - 2 842 c.446A>G c.(445-447)cAc>cGc p.H149R NTRK1_ENST00000392302.2_Intron NM_014215.2 NP_055030.1 P14616 INSRR_HUMAN insulin receptor-related receptor 149 protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 42 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) GGTGGAGAGGTGGCAGAGCTC 0.627000 31 17 0 0 1 0 0 VWA5A 4013 broad.mit.edu 37 11 124005729 124005729 + Missense_Mutation SNP G G C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:124005729G>C ENST00000456829.2 + 12 1598 c.1347G>C c.(1345-1347)agG>agC p.R449S VWA5A_ENST00000360334.4_Intron|VWA5A_ENST00000392748.1_Missense_Mutation_p.R449S NM_001130142.1 NP_001123614.1 O00534 VMA5A_HUMAN von Willebrand factor A domain containing 5A 449 VWFA. autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 47 GCAAAGACAGGATGCAGTCCA 0.532000 8 35 0 0 1 0 0 CEP170B 283638 broad.mit.edu 37 14 105353560 105353560 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr14:105353560C>T ENST00000453495.1 + 12 3215 c.2987C>T c.(2986-2988)cCg>cTg p.P996L CEP170B_ENST00000414716.3_Missense_Mutation_p.P995L|CEP170B_ENST00000418279.1_Missense_Mutation_p.P925L|CEP170B_ENST00000556508.1_Missense_Mutation_p.P925L centrosomal protein 170B GCACAGGACCCGGGAGGCACC 0.697000 29 36 0 0 1 0 0 GAA 2548 broad.mit.edu 37 17 78093091 78093091 + Silent SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr17:78093091G>A ENST00000302262.3 + 20 3039 c.2820G>A c.(2818-2820)tcG>tcA p.S940S GAA_ENST00000390015.3_Silent_p.S940S NM_000152.3 NP_000143.2 P10253 LYAG_HUMAN glucosidase, alpha; acid 940 cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis lysosomal membrane carbohydrate binding|maltose alpha-glucosidase activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 21 all_neural(118;0.117) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139) Acarbose(DB00284) TCTGTGTCTCGCTGTTGATGG 0.592000 18 115 0 0 1 0 0 ZBTB1 22890 broad.mit.edu 37 14 64988384 64988384 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr14:64988384G>T ENST00000358738.3 + 2 553 c.162G>T c.(160-162)atG>atT p.M54I ZBTB1_ENST00000554015.1_Missense_Mutation_p.M54I|ZBTB1_ENST00000394712.2_Missense_Mutation_p.M54I|RP11-973N13.4_ENST00000554918.1_RNA NM_014950.2 NP_055765.2 Q9Y2K1 ZBTB1_HUMAN zinc finger and BTB domain containing 1 54 BTB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1) 13 all_lung(585;0.000567)|Myeloproliferative disorder(585;0.0255)|all_neural(303;0.0294) UCEC - Uterine corpus endometrioid carcinoma (185;0.0182)|all cancers(60;3.78e-43)|OV - Ovarian serous cystadenocarcinoma(108;1.22e-20)|BRCA - Breast invasive adenocarcinoma(234;6.75e-06)|KIRC - Kidney renal clear cell carcinoma(182;0.00269)|STAD - Stomach adenocarcinoma(64;0.012) TGTTTTTCATGAACCATCAGC 0.353000 31 39 3.1745e-13 4.22575e-13 1 1 0 AIM2 9447 broad.mit.edu 37 1 159035755 159035755 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:159035755G>A ENST00000368130.4 - 4 1049 c.761C>T c.(760-762)aCg>aTg p.T254M AIM2_ENST00000481829.1_5'UTR NM_004833.1 NP_004824.1 O14862 AIM2_HUMAN absent in melanoma 2 254 HIN-200. cellular response to drug|immune response|interleukin-1 beta secretion mitochondrion|nucleus breast(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(1) 16 all_hematologic(112;0.0429) AGTTTGAAGCGTGTTGATCTT 0.393000 38 108 0 0 1 0 0 COL24A1 255631 broad.mit.edu 37 1 86482852 86482852 + Silent SNP A A C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:86482852A>C ENST00000370571.2 - 19 2658 c.2292T>G c.(2290-2292)tcT>tcG p.S764S COL24A1_ENST00000436319.1_Silent_p.S764S NM_152890.5 NP_690850.2 Q17RW2 COOA1_HUMAN collagen, type XXIV, alpha 1 764 Collagen-like 4. cell adhesion collagen extracellular matrix structural constituent NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 101 all cancers(265;0.0627)|Epithelial(280;0.0689) CTGGAGGGCCAGATGGTCCTT 0.368000 5 12 0 0 1 0 0 CSRNP3 80034 broad.mit.edu 37 2 166536039 166536039 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr2:166536039G>T ENST00000314499.7 + 7 1910 c.1534G>T c.(1534-1536)Ggt>Tgt p.G512C CSRNP3_ENST00000342316.4_Missense_Mutation_p.G512C|CSRNP3_ENST00000409420.1_Missense_Mutation_p.G544C NM_001172173.1 NP_001165644.1 Q8WYN3 CSRN3_HUMAN cysteine-serine-rich nuclear protein 3 512 apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2) 33 AAATGATAGCGGTGTGCCCTG 0.507000 18 30 2.35188e-11 3.04225e-11 1 1 0 TAS1R3 83756 broad.mit.edu 37 1 1267222 1267222 + Silent SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:1267222G>A ENST00000339381.5 + 2 428 c.396G>A c.(394-396)acG>acA p.T132T NM_152228.1 NP_689414.1 Q7RTX0 TS1R3_HUMAN taste receptor, type 1, member 3 132 detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste plasma membrane protein heterodimerization activity|taste receptor activity kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146) Aspartame(DB00168) GCAACTACACGCAGTACCAGC 0.622000 8 57 0 0 1 0 0 PDHA2 5161 broad.mit.edu 37 4 96761365 96761365 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr4:96761365C>A ENST00000295266.4 + 1 127 c.64C>A c.(64-66)Ctg>Atg p.L22M NM_005390.4 NP_005381.1 P29803 ODPAT_HUMAN pyruvate dehydrogenase (lipoamide) alpha 2 22 glycolysis mitochondrial matrix pyruvate dehydrogenase (acetyl-transferring) activity NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 46 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;1.23e-06) NADH(DB00157) TCGCAGAGTGCTGGTGGCATC 0.527000 13 36 0.000308642 0.000330131 1 1 0 EEF2 1938 broad.mit.edu 37 19 3983168 3983168 + Nonsense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:3983168C>A ENST00000309311.6 - 3 428 c.340G>T c.(340-342)Gag>Tag p.E114* NM_001961.3 NP_001952.1 P13639 EF2_HUMAN eukaryotic translation elongation factor 2 114 cytosol|ribonucleoprotein complex GTP binding|GTPase activity|protein binding|translation elongation factor activity endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18) GCAGTCACCTCCGAGGAGAAG 0.612000 19 48 2.4624e-09 3.02639e-09 1 1 0 SYT16 83851 broad.mit.edu 37 14 62547585 62547585 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr14:62547585G>T ENST00000430451.2 + 4 1224 c.1027G>T c.(1027-1029)Ggg>Tgg p.G343W SYT16_ENST00000446982.2_Silent_p.P372P|RP11-355I22.5_ENST00000553990.1_lincRNA NM_031914.2 NP_114120.2 Q17RD7 SYT16_HUMAN synaptotagmin XVI 343 central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 35 OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118) GGTGCCATCCGGGGTCTCAGA 0.493000 5 11 3.59834e-05 3.95641e-05 1 1 0 INSR 3643 broad.mit.edu 37 19 7143058 7143058 + Missense_Mutation SNP T T C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:7143058T>C ENST00000341500.5 - 11 2314 c.2275A>G c.(2275-2277)Acg>Gcg p.T759A INSR_ENST00000302850.5_Missense_Mutation_p.T771A NM_001079817.1 NP_001073285.1 P06213 INSR_HUMAN insulin receptor 771 Fibronectin type-III 2. activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus caveola|endosome membrane|insulin receptor complex|microsome ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2) 66 Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) ACGGCCACCGTCACATTCCCA 0.537000 7 58 0 0 1 0 0 RNF133 168433 broad.mit.edu 37 7 122338491 122338491 + Missense_Mutation SNP G G A rs147690048 TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr7:122338491G>A ENST00000340112.2 - 1 719 c.482C>T c.(481-483)aCg>aTg p.T161M CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000313070.7_Intron NM_139175.1 NP_631914.1 Q8WVZ7 RN133_HUMAN ring finger protein 133 161 PA. endoplasmic reticulum membrane|integral to membrane ligase activity|zinc ion binding NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1) 21 GAAAATTTCCGTGCCTTTTAA 0.413000 59 71 0 0 1 0 0 INPP5E 56623 broad.mit.edu 37 9 139333264 139333264 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr9:139333264G>A ENST00000371712.3 - 1 1010 c.608C>T c.(607-609)tCc>tTc p.S203F NM_019892.4 NP_063945.2 Q9NRR6 INP5E_HUMAN inositol polyphosphate-5-phosphatase, 72 kDa 203 13 X 4 AA repeats of P-X-X-P. cilium axoneme|cytoskeleton|Golgi cisterna membrane inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity p.S203F(1) NS(1)|endometrium(1)|lung(4)|skin(3) 9 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;8.36e-06)|Epithelial(140;1.4e-05) CAGGGAGTCGGAGGCGATGTC 0.716000 11 22 0 0 1 0 0 PCDHGA9 56107 broad.mit.edu 37 5 140782901 140782901 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr5:140782901G>A ENST00000573521.1 + 1 382 c.382G>A c.(382-384)Gac>Aac p.D128N PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA8_ENST00000398604.2_Intron NM_018921.2|NM_032089.1 NP_061744.1|NP_114478.1 endometrium(1)|kidney(1)|lung(3) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGATATTAACGACAGCGCCCC 0.468000 4 116 0 0 1 0 0 MRPL1 65008 broad.mit.edu 37 4 78806483 78806483 + Missense_Mutation SNP T T A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr4:78806483T>A ENST00000315567.8 + 4 805 c.476T>A c.(475-477)gTa>gAa p.V159E MRPL1_ENST00000506674.1_3'UTR NM_020236.3 NP_064621.3 Q9BYD6 RM01_HUMAN mitochondrial ribosomal protein L1 159 RNA binding breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1) 17 AAAGTTGCTGTATTTACAGAG 0.378000 13 53 0 0 1 0 0 POSTN 10631 broad.mit.edu 37 13 38160960 38160960 + Missense_Mutation SNP G G C rs144505887 TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr13:38160960G>C ENST00000379747.4 - 6 829 c.712C>G c.(712-714)Caa>Gaa p.Q238E POSTN_ENST00000379742.4_Missense_Mutation_p.Q238E|POSTN_ENST00000541179.1_Missense_Mutation_p.Q238E|POSTN_ENST00000541481.1_Missense_Mutation_p.Q238E|POSTN_ENST00000379749.4_Missense_Mutation_p.Q238E|POSTN_ENST00000379743.4_Missense_Mutation_p.Q238E NM_006475.2 NP_006466.2 Q15063 POSTN_HUMAN periostin, osteoblast specific factor 238 FAS1 2. cell adhesion|skeletal system development proteinaceous extracellular matrix heparin binding cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 59 Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743) all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154) ATGAAGTCTTGAATTGAGGTA 0.403000 6 41 0 0 1 0 0 CPEB1 64506 broad.mit.edu 37 15 83240228 83240228 + Missense_Mutation SNP G G C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr15:83240228G>C ENST00000563800.1 - 3 2051 c.326C>G c.(325-327)gCg>gGg p.A109G CPEB1_ENST00000423133.2_Missense_Mutation_p.A7G|CPEB1_ENST00000398592.2_5'UTR|CPEB1_ENST00000568128.1_Missense_Mutation_p.A82G|CPEB1_ENST00000562019.1_Missense_Mutation_p.A82G|CPEB1_ENST00000564522.1_Missense_Mutation_p.A7G|CPEB1_ENST00000568757.1_Missense_Mutation_p.A7G|CPEB1_ENST00000450751.2_Missense_Mutation_p.A7G|CPEB1_ENST00000261723.6_Missense_Mutation_p.A85G|CPEB1_ENST00000398591.2_Missense_Mutation_p.A7G Q9BZB8 CPEB1_HUMAN cytoplasmic polyadenylation element binding protein 1 82 mRNA processing|regulation of translation cell junction|cytoplasmic mRNA processing body|dendrite|postsynaptic density|postsynaptic membrane nucleotide binding|RNA binding breast(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(1)|skin(1) 28 BRCA - Breast invasive adenocarcinoma(143;0.229) AGATTCTTGCGCAGAGGTTGG 0.542000 48 97 0 0 1 0 0 PIK3C2B 5287 broad.mit.edu 37 1 204415187 204415187 + Missense_Mutation SNP T T A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:204415187T>A ENST00000367187.3 - 17 3131 c.2575A>T c.(2575-2577)Agc>Tgc p.S859C PIK3C2B_ENST00000424712.2_Intron NM_002646.3 NP_002637.3 O00750 P3C2B_HUMAN phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta 859 cell communication|phosphatidylinositol-mediated signaling endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 52 all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227) GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193) CTGGGGGCGCTGGCGAGCACC 0.627000 OREG0014135 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 42 107 0 0 1 0 0 C19orf40 91442 broad.mit.edu 37 19 33465102 33465102 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:33465102G>T ENST00000588258.1 + 4 490 c.380G>T c.(379-381)tGc>tTc p.C127F C19orf40_ENST00000589646.1_Missense_Mutation_p.C32F|C19orf40_ENST00000590281.1_Missense_Mutation_p.C127F|C19orf40_ENST00000590179.1_Missense_Mutation_p.C32F NM_152266.3 NP_689479.1 Q9BTP7 FAP24_HUMAN chromosome 19 open reading frame 40 127 DNA repair Fanconi anaemia nuclear complex chromatin binding|DNA binding|protein binding endometrium(1)|large_intestine(2)|lung(2)|prostate(2) 7 Esophageal squamous(110;0.137) GAAGCATCCTGCCTCGTCATC 0.527000 Direct reversal of damage 16 40 1.45105e-14 1.99187e-14 1 1 0 CLDN1 9076 broad.mit.edu 37 3 190026123 190026123 + Silent SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr3:190026123G>A ENST00000295522.3 - 4 847 c.579C>T c.(577-579)taC>taT p.Y193Y NM_021101.4 NP_066924.1 O95832 CLD1_HUMAN claudin 1 193 calcium-independent cell-cell adhesion|interspecies interaction between organisms integral to plasma membrane|tight junction identical protein binding|structural molecule activity lung(9) 9 all_cancers(143;2.95e-10)|Ovarian(172;0.0512) Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05) GBM - Glioblastoma multiforme(93;0.015) TTGGTGTTGGGTAAGAGGTTG 0.502000 38 94 0 0 1 0 0 SEMA6B 10501 broad.mit.edu 37 19 4544472 4544472 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:4544472G>A ENST00000586582.1 - 17 2118 c.1808C>T c.(1807-1809)tCg>tTg p.S603L SEMA6B_ENST00000301293.3_Missense_Mutation_p.S603L|SEMA6B_ENST00000586965.1_Missense_Mutation_p.S603L NM_032108.3 NP_115484.2 Q9H3T3 SEM6B_HUMAN sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B 603 cell differentiation|nervous system development integral to membrane receptor activity breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18) GGCCGCCACCGACGACGTTAC 0.721000 6 29 0 0 1 0 0 CROCC 9696 broad.mit.edu 37 1 17257835 17257835 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:17257835G>T ENST00000375541.5 + 8 968 c.899G>T c.(898-900)tGg>tTg p.W300L CROCC_ENST00000467938.1_3'UTR NM_014675.3 NP_055490.3 Q5TZA2 CROCC_HUMAN ciliary rootlet coiled-coil, rootletin 300 cell cycle|cell projection organization|centrosome organization|protein localization actin cytoskeleton|centriole|ciliary rootlet|plasma membrane kinesin binding|structural molecule activity breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1) 62 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181) CTCCTCCTCTGGAGGCAGGTG 0.637000 25 149 3.69857e-22 5.54538e-22 1 1 0 UGGT2 55757 broad.mit.edu 37 13 96599352 96599352 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr13:96599352C>T ENST00000376747.3 - 15 1686 c.1616G>A c.(1615-1617)cGa>cAa p.R539Q NM_020121.3 NP_064506.3 Q9NYU1 UGGG2_HUMAN UDP-glucose glycoprotein glucosyltransferase 2 539 post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen|ER-Golgi intermediate compartment UDP-glucose:glycoprotein glucosyltransferase activity p.R539Q(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2) 60 GTTGAAAGCTCGCCAGAGAGC 0.343000 9 55 0 0 1 0 0 ITGA11 22801 broad.mit.edu 37 15 68612718 68612718 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr15:68612718C>A ENST00000423218.2 - 20 2516 c.2421G>T c.(2419-2421)caG>caT p.Q807H ITGA11_ENST00000315757.7_Missense_Mutation_p.Q807H Q9UKX5 ITA11_HUMAN integrin, alpha 11 807 cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development integrin complex collagen binding|receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 52 Tirofiban(DB00775) TCAGCACCCTCTGGCAGTACT 0.592000 8 10 0.00307968 0.00321738 1 1 0 CNTF 1270 broad.mit.edu 37 11 58390330 58390330 + Silent SNP G G A rs143821189 TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:58390330G>A ENST00000361987.4 + 1 185 c.105G>A c.(103-105)acG>acA p.T35T ZFP91-CNTF_ENST00000389919.4_3'UTR NM_000614.3 NP_000605.1 P26441 CNTF_HUMAN ciliary neurotrophic factor 35 ciliary neurotrophic factor-mediated signaling pathway|growth|negative regulation of neuron apoptosis|positive regulation of tyrosine phosphorylation of Stat3 protein ciliary neurotrophic factor receptor binding|growth factor activity|interleukin-6 receptor binding NS(1)|breast(1)|kidney(2)|large_intestine(4)|lung(1)|ovary(1) 10 Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24) CTGCTCTTACGGAATCCTATG 0.473000 3 26 0 0 1 0 0 GLI2 2736 broad.mit.edu 37 2 121726385 121726385 + Missense_Mutation SNP C C T rs138556334 TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr2:121726385C>T ENST00000452319.1 + 6 799 c.739C>T c.(739-741)Cgg>Tgg p.R247W GLI2_ENST00000361492.4_Missense_Mutation_p.R247W|GLI2_ENST00000314490.11_5'UTR|GLI2_ENST00000435313.2_3'UTR P10070 GLI2_HUMAN GLI family zinc finger 2 247 axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 Renal(3;0.0496) Prostate(154;0.0623) GGACCTGCAGCGGATGATCCG 0.667000 4 98 0 0 1 0 0 OCM2 4951 broad.mit.edu 37 7 97617751 97617751 + Silent SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr7:97617751C>A ENST00000257627.4 - 2 262 c.171G>T c.(169-171)ggG>ggT p.G57G OCM2_ENST00000473987.2_5'UTR NM_006188.3 NP_006179.2 P0CE71 OCM2_HUMAN oncomodulin 2 57 EF-hand 1. calcium ion binding lung(4) 4 CATCCAGATACCCGCTCTGGT 0.537000 17 100 1.67942e-08 2.01872e-08 1 1 0 KIAA1324L 222223 broad.mit.edu 37 7 86544070 86544070 + Missense_Mutation SNP C C G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr7:86544070C>G ENST00000450689.2 - 13 1885 c.1700G>C c.(1699-1701)tGg>tCg p.W567S KIAA1324L_ENST00000490995.1_5'UTR|KIAA1324L_ENST00000297222.6_Missense_Mutation_p.W327S|KIAA1324L_ENST00000416314.1_Missense_Mutation_p.W400S|KIAA1324L_ENST00000444627.1_Missense_Mutation_p.W567S NM_001142749.2 NP_001136221.1 A8MWY0 K132L_HUMAN KIAA1324-like 567 integral to membrane breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 44 Esophageal squamous(14;0.0058) CTGGAATGCCCATGTAAATGT 0.363000 11 41 0 0 1 0 0 KRT24 192666 broad.mit.edu 37 17 38859560 38859560 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr17:38859560C>A ENST00000264651.2 - 1 442 c.386G>T c.(385-387)gGt>gTt p.G129V NM_019016.2 NP_061889.2 Q2M2I5 K1C24_HUMAN keratin 24 129 Gly-rich.|Head. cytoplasm|intermediate filament structural molecule activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Breast(137;0.00526) ATCGCCAACACCACCTCCCAT 0.537000 22 227 2.89027e-11 3.72579e-11 1 1 0 FAM154A 158297 broad.mit.edu 37 9 18928802 18928802 + Nonsense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr9:18928802C>A ENST00000380534.4 - 4 952 c.673G>T c.(673-675)Gag>Tag p.E225* FAM154A_ENST00000380530.1_3'UTR|FAM154A_ENST00000542071.1_Nonsense_Mutation_p.E33* NM_153707.2 NP_714918.2 Q8IYX7 F154A_HUMAN family with sequence similarity 154, member A 225 breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|skin(1) 26 GBM - Glioblastoma multiforme(50;6.53e-16) CTGAACTTCTCTGCTTCATGC 0.527000 10 66 1.58986e-06 1.82314e-06 1 1 0 THOC2 57187 broad.mit.edu 37 X 122799684 122799684 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chrX:122799684C>T ENST00000245838.8 - 12 1226 c.1195G>A c.(1195-1197)Gga>Aga p.G399R THOC2_ENST00000491737.1_Missense_Mutation_p.G284R|THOC2_ENST00000355725.4_Missense_Mutation_p.G399R NM_001081550.1 NP_001075019.1 Q8NI27 THOC2_HUMAN THO complex 2 399 intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing THO complex part of transcription export complex protein binding|RNA binding breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3) 63 TTAGGAACTCCAACTCTATTT 0.299000 12 74 0 0 1 0 0 FOXI1 2299 broad.mit.edu 37 5 169533468 169533468 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr5:169533468C>A ENST00000449804.2 + 1 552 c.507C>A c.(505-507)aaC>aaA p.N169K FOXI1_ENST00000306268.6_Missense_Mutation_p.N169K NM_012188.4|NM_144769.2 NP_036320.2|NP_658982.1 Q12951 FOXI1_HUMAN forkhead box I1 169 epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04) Medulloblastoma(196;0.0109)|all_neural(177;0.0298) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GCTGGCAGAACTCCATCCGCC 0.617000 Pendred syndrome 7 16 0.0293803 0.0299002 1 1 0 UROC1 131669 broad.mit.edu 37 3 126207048 126207048 + Missense_Mutation SNP C C A rs150770424 byFrequency TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr3:126207048C>A ENST00000290868.2 - 18 1836 c.1783G>T c.(1783-1785)Gtg>Ttg p.V595L UROC1_ENST00000383579.3_Missense_Mutation_p.V655L NM_144639.2 NP_653240.1 Q96N76 HUTU_HUMAN urocanate hydratase 1 595 histidine catabolic process cytosol urocanate hydratase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1) 39 GBM - Glioblastoma multiforme(114;0.17) TACCAGCCCACGCCCCCTCCG 0.607000 58 170 6.1719e-39 9.9095e-39 1 1 0 LIMK2 3985 broad.mit.edu 37 22 31655955 31655955 + Missense_Mutation SNP A A G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr22:31655955A>G ENST00000331728.4 + 5 557 c.443A>G c.(442-444)tAc>tGc p.Y148C LIMK2_ENST00000444929.2_Intron|LIMK2_ENST00000406516.1_Missense_Mutation_p.Y70C|LIMK2_ENST00000340552.4_Missense_Mutation_p.Y127C|LIMK2_ENST00000333611.4_Missense_Mutation_p.Y127C NM_005569.3 NP_005560.1 P53671 LIMK2_HUMAN LIM domain kinase 2 148 mitochondrion|nucleus ATP binding|protein serine/threonine kinase activity|zinc ion binding endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1) 29 CAGCTGCCCTACTCTGTCACG 0.612000 6 82 0 0 1 0 0 DNA2 1763 broad.mit.edu 37 10 70231740 70231740 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr10:70231740C>A ENST00000399180.2 - 1 139 c.140G>T c.(139-141)cGg>cTg p.R47L DNA2_ENST00000399179.2_5'UTR P51530 DNA2L_HUMAN DNA replication helicase/nuclease 2 0 base-excision repair|DNA replication, removal of RNA primer|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication mitochondrial nucleoid|nucleoplasm 5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1) 20 TGCGCCAACCCGCAGATGTCC 0.637000 17 35 3.41278e-10 4.29085e-10 1 1 0 SRL 6345 broad.mit.edu 37 16 4292063 4292063 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr16:4292063C>A ENST00000399609.3 - 1 18 c.6G>T c.(4-6)agG>agT p.R2S NM_001098814.1 NP_001092284.1 Q86TD4 SRCA_HUMAN sarcalumenin 2 sarcoplasmic reticulum lumen GTP binding|GTPase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(3) 21 GGACCAGCGCCCTCATGGTGA 0.667000 10 15 0.00829132 0.008594 1 1 0 USP6 9098 broad.mit.edu 37 17 5041500 5041500 + Missense_Mutation SNP C C G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr17:5041500C>G ENST00000574788.1 + 21 3240 c.1010C>G c.(1009-1011)aCc>aGc p.T337S USP6_ENST00000304328.5_5'UTR|USP6_ENST00000250066.6_Missense_Mutation_p.T337S|USP6_ENST00000332776.4_Missense_Mutation_p.T337S P35125 UBP6_HUMAN ubiquitin specific peptidase 6 (Tre-2 oncogene) 337 protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process lysosome|plasma membrane|recycling endosome calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 34 AACGATGACACCGTGCTCAAG 0.582000 T """COL1A1, CDH11, ZNF9, OMD""" aneurysmal bone cysts 49 74 0 0 1 0 0 DPT 1805 broad.mit.edu 37 1 168683484 168683484 + Missense_Mutation SNP T T A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:168683484T>A ENST00000367817.3 - 2 495 c.406A>T c.(406-408)Agc>Tgc p.S136C NM_001937.4 NP_001928.2 Q07507 DERM_HUMAN dermatopontin 136 2 X 53-55 AA tandem repeats.|3 X 6 AA repeats of D-R-[EQ]-W-[NQK]- [FY]. cell adhesion extracellular space|proteinaceous extracellular matrix kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2) 12 all_hematologic(923;0.208) CACCTCTTGCTGTAGCGACAA 0.572000 17 60 0 0 1 0 0 UGT2B4 7363 broad.mit.edu 37 4 70359461 70359461 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr4:70359461C>T ENST00000305107.6 - 2 866 c.820G>A c.(820-822)Gtt>Att p.V274I UGT2B4_ENST00000512583.1_Missense_Mutation_p.V274I|UGT2B4_ENST00000381096.3_Missense_Mutation_p.V138I|UGT2B4_ENST00000506580.1_5'UTR NM_021139.2 NP_066962.2 P06133 UD2B4_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B4 274 estrogen catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 47 ACGAACTCAACATTTGGTAAG 0.428000 47 108 0 0 1 0 0 DOCK7 85440 broad.mit.edu 37 1 62941827 62941827 + Splice_Site SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:62941827C>A ENST00000251157.5 - 44 5635 c.5601_splice c.e44-1 p.G1868_splice DOCK7_ENST00000340370.5_Splice_Site_p.G1848_splice|DOCK7_ENST00000489185.1_5'UTR NM_001271999.1 NP_001258928.1 Q96N67 DOCK7_HUMAN dedicator of cytokinesis 7 1879 DHR-2. activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation axon|basal part of cell|growth cone GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 92 CCGTAAAATCCCTACAATAAA 0.348000 14 22 9.31168e-06 1.04378e-05 1 1 0 P4HA3 283208 broad.mit.edu 37 11 73997406 73997406 + Missense_Mutation SNP A A G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:73997406A>G ENST00000331597.4 - 6 845 c.800T>C c.(799-801)gTc>gCc p.V267A P4HA3_ENST00000427714.2_Missense_Mutation_p.V267A NM_182904.3 NP_878907.1 Q7Z4N8 P4HA3_HUMAN prolyl 4-hydroxylase, alpha polypeptide III 267 endoplasmic reticulum lumen iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity NS(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(1) 15 Breast(11;2.31e-05) ATATTTCAAGACATTCCTGGC 0.507000 9 215 0 0 1 0 0 BICC1 80114 broad.mit.edu 37 10 60588635 60588635 + Missense_Mutation SNP T T A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr10:60588635T>A ENST00000373886.3 + 21 2913 c.2909T>A c.(2908-2910)gTc>gAc p.V970D NM_001080512.1 NP_001073981.1 Q9H694 BICC1_HUMAN bicaudal C homolog 1 (Drosophila) 970 multicellular organismal development RNA binding breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 44 ATTGCTAGTGTCAGTGGCCGC 0.527000 27 51 0 0 1 0 0 KLHL1 57626 broad.mit.edu 37 13 70314688 70314688 + Splice_Site SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr13:70314688C>A ENST00000377844.4 - 8 2399 c.1639_splice c.e8-1 p.G547_splice KLHL1_ENST00000545028.1_Splice_Site_p.G354_splice NM_020866.2 NP_065917.1 Q9NR64 KLHL1_HUMAN kelch-like family member 1 547 actin cytoskeleton organization cytoplasm|cytoskeleton actin binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 84 Breast(118;0.000162) COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211) TACTGTTACACCTAAAATATT 0.383000 26 24 9.57634e-11 1.21767e-10 1 1 0 FAM135B 51059 broad.mit.edu 37 8 139164690 139164690 + Silent SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr8:139164690G>T ENST00000395297.1 - 13 2198 c.2028C>A c.(2026-2028)atC>atA p.I676I NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 676 NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) AAGATCTCTTGATGACCCCGG 0.527000 HNSCC(54;0.14) 18 35 1.55795e-14 2.13078e-14 1 1 0 CNTNAP3B 728577 broad.mit.edu 37 9 43816743 43816743 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr9:43816743G>T ENST00000377564.3 + 6 1242 c.849G>T c.(847-849)caG>caT p.Q283H CNTNAP3B_ENST00000276974.6_Missense_Mutation_p.Q283H NM_001201380.1 NP_001188309.1 Q96NU0 CNT3B_HUMAN contactin associated protein-like 3B 283 Laminin G-like 1. cell adhesion|signal transduction integral to membrane receptor binding central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3) 10 TCGACACGCAGGTCAACTTCA 0.473000 12 63 4.36969e-10 5.48166e-10 1 1 0 SLC5A6 8884 broad.mit.edu 37 2 27427724 27427724 + Missense_Mutation SNP T T A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr2:27427724T>A ENST00000310574.3 - 8 1283 c.810A>T c.(808-810)ttA>ttT p.L270F SLC5A6_ENST00000408041.1_Missense_Mutation_p.L270F NM_021095.2 NP_066918.2 Q9Y289 SC5A6_HUMAN solute carrier family 5 (sodium/multivitamin and iodide cotransporter), member 6 270 biotin metabolic process|pantothenate metabolic process integral to plasma membrane|membrane fraction sodium-dependent multivitamin transmembrane transporter activity endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(3)|prostate(1)|skin(1) 20 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Biotin(DB00121)|Lipoic Acid(DB00166) TCACCCCGTATAAGGAGAGCA 0.587000 22 52 0 0 1 0 0 CACNA1E 777 broad.mit.edu 37 1 181687190 181687190 + Splice_Site SNP G G C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:181687190G>C ENST00000526775.1 + 12 1690 c.e12-1 CACNA1E_ENST00000367573.2_Splice_Site|CACNA1E_ENST00000367567.4_Splice_Site|CACNA1E_ENST00000357570.5_Splice_Site|CACNA1E_ENST00000367570.1_Splice_Site|CACNA1E_ENST00000358338.5_Splice_Site|CACNA1E_ENST00000360108.3_Splice_Site NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 AATACTTCCAGACTATGCAGA 0.468000 3 11 0 0 1 0 0 IWS1 55677 broad.mit.edu 37 2 128262421 128262421 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr2:128262421C>A ENST00000295321.4 - 3 1317 c.1058G>T c.(1057-1059)aGc>aTc p.S353I IWS1_ENST00000455721.2_Missense_Mutation_p.S360I|AC010976.2_ENST00000599001.1_RNA NM_017969.2 NP_060439.2 Q96ST2 IWS1_HUMAN IWS1 homolog (S. cerevisiae) 353 Glu-rich. transcription, DNA-dependent nucleus DNA binding cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 28 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0735) GTCCATATGGCTGTCTGAATG 0.438000 54 150 3.19069e-20 4.72078e-20 1 1 0 PLXDC2 84898 broad.mit.edu 37 10 20290769 20290769 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr10:20290769G>A ENST00000377252.3 + 2 1019 c.178G>A c.(178-180)Gcg>Acg p.A60T PLXDC2_ENST00000377242.3_Missense_Mutation_p.A60T NM_032812.7 NP_116201.7 Q6UX71 PXDC2_HUMAN plexin domain containing 2 60 integral to membrane breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1) 34 TGATTCACACGCGTACAGCCA 0.502000 21 49 0 0 1 0 0 MCC 4163 broad.mit.edu 37 5 112458519 112458519 + Nonsense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr5:112458519C>A ENST00000302475.4 - 4 882 c.319G>T c.(319-321)Gaa>Taa p.E107* MCC_ENST00000408903.3_Nonsense_Mutation_p.E297*|MCC_ENST00000514701.3_5'UTR|MCC_ENST00000515367.2_Nonsense_Mutation_p.E44* NM_002387.2 NP_002378.1 P23508 CRCM_HUMAN mutated in colorectal cancers 107 negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway cytoplasm|nucleus|plasma membrane protein binding|receptor activity endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198) OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766) TACTCATCTTCCTCCCTGAGA 0.453000 22 21 1.55795e-14 2.13078e-14 1 1 0 CNOT3 4849 broad.mit.edu 37 19 54652038 54652038 + Silent SNP A A G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:54652038A>G ENST00000406403.1 + 10 2653 c.1050A>G c.(1048-1050)ccA>ccG p.P350P CNOT3_ENST00000358389.3_Silent_p.P169P|CNOT3_ENST00000221232.5_Silent_p.P350P O75175 CNOT3_HUMAN CCR4-NOT transcription complex, subunit 3 350 Pro-rich. nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol|nucleus protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3) 28 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) CAGCACCCCCAAGTGCCCTGG 0.721000 6 27 0 0 1 0 0 PTP4A3 11156 broad.mit.edu 37 8 142435183 142435183 + Silent SNP T T C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr8:142435183T>C ENST00000520105.1 + 3 1084 c.141T>C c.(139-141)cgT>cgC p.R47R PTP4A3_ENST00000521578.1_Silent_p.R47R|PTP4A3_ENST00000329397.1_Silent_p.R47R|PTP4A3_ENST00000349124.1_Silent_p.R47R|PTP4A3_ENST00000524028.1_Intron O75365 TP4A3_HUMAN protein tyrosine phosphatase type IVA, member 3 47 early endosome|plasma membrane identical protein binding|prenylated protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity endometrium(2)|large_intestine(1)|lung(3) 6 all_cancers(97;2.55e-15)|all_epithelial(106;1.39e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0474) CTGTGGTGCGTGTGTGTGAAG 0.662000 8 37 0 0 1 0 0 CSPG4 1464 broad.mit.edu 37 15 75979867 75979867 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr15:75979867G>A ENST00000308508.5 - 3 3631 c.3539C>T c.(3538-3540)gCt>gTt p.A1180V NM_001897.4 NP_001888.2 Q6UVK1 CSPG4_HUMAN chondroitin sulfate proteoglycan 4 1180 Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity). angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane protein kinase binding|signal transducer activity breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4) 48 TGGCTGACCAGCCCGGACTAG 0.652000 24 77 0 0 1 0 0 KIAA1217 56243 broad.mit.edu 37 10 24825714 24825714 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr10:24825714G>T ENST00000376451.2 + 12 2735 c.2475G>T c.(2473-2475)aaG>aaT p.K825N KIAA1217_ENST00000396445.1_Missense_Mutation_p.K825N|KIAA1217_ENST00000458595.1_Missense_Mutation_p.K1107N|KIAA1217_ENST00000376452.3_Missense_Mutation_p.K1106N|KIAA1217_ENST00000307544.6_Missense_Mutation_p.K825N|KIAA1217_ENST00000376454.3_Missense_Mutation_p.K1142N|KIAA1217_ENST00000376462.1_Intron|KIAA1217_ENST00000396446.1_Intron Q5T5P2 SKT_HUMAN KIAA1217 1142 embryonic skeletal system development cytoplasm breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1) 70 CATTCCAGAAGTGTTCCTTTA 0.498000 36 119 4.90274e-10 6.13663e-10 1 1 0 PHKA1 5255 broad.mit.edu 37 X 71813030 71813030 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chrX:71813030C>T ENST00000373545.3 - 29 3479 c.3041G>A c.(3040-3042)cGc>cAc p.R1014H PHKA1_ENST00000339490.3_Missense_Mutation_p.R1043H|PHKA1_ENST00000541944.1_Missense_Mutation_p.R984H|PHKA1_ENST00000373539.3_Missense_Mutation_p.R1073H|PHKA1_ENST00000373542.4_Missense_Mutation_p.R1056H P46020 KPB1_HUMAN phosphorylase kinase, alpha 1 (muscle) 1056 glucose metabolic process|glycogen catabolic process cytosol|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity p.R1056P(1) NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 Renal(35;0.156) CCTTCTTCGGCGTTGCCATTG 0.438000 15 89 0 0 1 0 0 COL4A5 1287 broad.mit.edu 37 X 107869445 107869445 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chrX:107869445C>A ENST00000328300.6 + 36 3356 c.3112C>A c.(3112-3114)Cag>Aag p.Q1038K COL4A5_ENST00000361603.2_Missense_Mutation_p.Q1038K NM_033380.2 NP_203699.1 P29400 CO4A5_HUMAN collagen, type IV, alpha 5 1038 Triple-helical region. axon guidance collagen type IV extracellular matrix structural constituent|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 99 AACAGGGCCTCAGGGTGTGGA 0.408000 Alport syndrome with Diffuse Leiomyomatosis 13 61 2.61681e-11 3.37717e-11 1 1 0 GHSR 2693 broad.mit.edu 37 3 172165996 172165996 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr3:172165996G>A ENST00000241256.2 - 1 250 c.208C>T c.(208-210)Cgc>Tgc p.R70C GHSR_ENST00000427970.1_Missense_Mutation_p.R70C NM_198407.2 NP_940799.1 Q92847 GHSR_HUMAN growth hormone secretagogue receptor 70 actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 33 Ovarian(172;0.00143)|Breast(254;0.197) Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235) TCGCGGAAGCGCGACACCACC 0.657000 10 76 0 0 1 0 0 PDE6B 5158 broad.mit.edu 37 4 619637 619637 + Silent SNP C C T rs148073084 TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr4:619637C>T ENST00000255622.6 + 1 265 c.222C>T c.(220-222)cgC>cgT p.R74R PDE6B_ENST00000496514.1_Silent_p.R74R NM_000283.3|NM_001145291.1 NP_000274.2|NP_001138763.1 P35913 PDE6B_HUMAN phosphodiesterase 6B, cGMP-specific, rod, beta 74 GAF 1. R -> C (in RP40; autosomal recessive). cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception cytosol|membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1) 30 ACATGGAGCGCGTGGTCTTCA 0.677000 7 15 0 0 1 0 0 KIAA1211L 343990 broad.mit.edu 37 2 99438349 99438349 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr2:99438349G>A ENST00000397899.2 - 7 2718 c.2387C>T c.(2386-2388)gCg>gTg p.A796V NM_207362.2 NP_997245.2 KIAA1211-like CCTTTTCTCCGCCGTCCTGGG 0.721000 11 24 0 0 1 0 0 TRPV5 56302 broad.mit.edu 37 7 142622712 142622712 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr7:142622712G>T ENST00000265310.1 - 8 1382 c.1034C>A c.(1033-1035)aCg>aAg p.T345K TRPV5_ENST00000442623.1_Missense_Mutation_p.T345K NM_019841.4 NP_062815.2 Q9NQA5 TRPV5_HUMAN transient receptor potential cation channel, subfamily V, member 5 345 protein tetramerization apical plasma membrane|integral to plasma membrane calcium channel activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 67 Melanoma(164;0.059) GACGCAGCACGTGGTAAAGCA 0.532000 36 48 6.05902e-23 9.15177e-23 1 1 0 TBX4 9496 broad.mit.edu 37 17 59544957 59544957 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr17:59544957G>T ENST00000393853.4 + 5 651 c.488G>T c.(487-489)cGg>cTg p.R163L TBX4_ENST00000240335.1_Missense_Mutation_p.R163L P57082 TBX4_HUMAN T-box 4 163 leg morphogenesis|skeletal system morphogenesis nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 CACTGGATGCGGCAGCTGGTC 0.612000 15 69 1.3612e-06 1.56654e-06 1 1 0 CREBZF 58487 broad.mit.edu 37 11 85374858 85374858 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:85374858C>T ENST00000527447.1 - 1 1288 c.1062G>A c.(1060-1062)atG>atA p.M354I CREBZF_ENST00000398294.2_Missense_Mutation_p.M272I|CREBZF_ENST00000534224.1_Intron|CREBZF_ENST00000531515.1_Intron NM_001039618.2 NP_001034707.1 Q9NS37 ZHANG_HUMAN CREB/ATF bZIP transcription factor 354 negative regulation of gene expression, epigenetic|negative regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|response to virus nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 9 Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033) CTTGACCCTACATTTTAAGAG 0.517000 OREG0021274 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 91 95 0 0 1 0 0 MAGEB2 4113 broad.mit.edu 37 X 30236732 30236732 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chrX:30236732G>T ENST00000378988.4 + 2 136 c.35G>T c.(34-36)cGt>cTt p.R12L NM_002364.4 NP_002355.2 O15479 MAGB2_HUMAN melanoma antigen family B, 2 12 protein binding breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1) 23 CTCCGTGCCCGTGAGAAACGC 0.537000 8 29 5.4927e-09 6.65953e-09 1 1 0 PTCD1 26024 broad.mit.edu 37 7 99032515 99032515 + Silent SNP C C G rs141699190 byFrequency TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr7:99032515C>G ENST00000292478.4 - 2 601 c.351G>C c.(349-351)cgG>cgC p.R117R PTCD1_ENST00000485746.1_5'UTR|ATP5J2-PTCD1_ENST00000413834.1_Silent_p.R166R|PTCD1_ENST00000555673.1_Silent_p.R166R NM_015545.3 NP_056360.2 pentatricopeptide repeat domain 1 endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1) 27 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) STAD - Stomach adenocarcinoma(171;0.215) GCTCATCTCTCCGTTCCCCAA 0.537000 91 118 0 0 1 0 0 ATP9A 10079 broad.mit.edu 37 20 50273592 50273592 + Missense_Mutation SNP G G A rs149758833 TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr20:50273592G>A ENST00000338821.5 - 14 1655 c.1391C>T c.(1390-1392)gCg>gTg p.A464V ATP9A_ENST00000311637.5_Missense_Mutation_p.A328V|ATP9A_ENST00000402822.1_Missense_Mutation_p.A343V NM_006045.1 NP_006036.1 O75110 ATP9A_HUMAN ATPase, class II, type 9A 464 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 GTGGCAGAGCGCGATGGCCTT 0.617000 7 36 0 0 1 0 0 HCFC1 3054 broad.mit.edu 37 X 153220004 153220004 + Silent SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chrX:153220004C>T ENST00000310441.7 - 17 4812 c.3846G>A c.(3844-3846)tcG>tcA p.S1282S HCFC1_ENST00000369984.4_Silent_p.S1282S|HCFC1_ENST00000354233.3_Silent_p.S1213S NM_005334.2 NP_005325.2 P51610 HCFC1_HUMAN host cell factor C1 (VP16-accessory protein) 1282 cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) TCACGGTGGCCGAGGGGCACA 0.667000 23 141 0 0 1 0 0 MDH2 4191 broad.mit.edu 37 7 75695676 75695676 + Missense_Mutation SNP A A G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr7:75695676A>G ENST00000315758.5 + 9 1059 c.965A>G c.(964-966)gAg>gGg p.E322G MDH2_ENST00000443006.1_Missense_Mutation_p.E215G|MDH2_ENST00000432020.2_Missense_Mutation_p.E280G NM_005918.2 NP_005909.2 P40926 MDHM_HUMAN malate dehydrogenase 2, NAD (mitochondrial) 322 gluconeogenesis|malate metabolic process|tricarboxylic acid cycle mitochondrial matrix|nucleus|plasma membrane binding|L-malate dehydrogenase activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(2) 14 NADH(DB00157) GCCATCCCCGAGCTGAAGGCC 0.512000 11 54 0 0 1 0 0 ST6GAL2 84620 broad.mit.edu 37 2 107459801 107459801 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr2:107459801G>T ENST00000409382.3 - 2 1243 c.633C>A c.(631-633)aaC>aaA p.N211K ST6GAL2_ENST00000361686.4_Missense_Mutation_p.N211K|ST6GAL2_ENST00000409087.3_Missense_Mutation_p.N211K NM_001142351.1 NP_001135823.1 Q96JF0 SIAT2_HUMAN ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 211 growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,6-sialyltransferase activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 65 TGGAAGAGACGTTCCCCTTCC 0.637000 16 25 2.32078e-09 2.86018e-09 1 1 0 OR13C3 138803 broad.mit.edu 37 9 107298633 107298633 + Silent SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr9:107298633C>A ENST00000374781.2 - 1 504 c.462G>T c.(460-462)gtG>gtT p.V154V NM_001001961.1 NP_001001961.1 Q8NGS6 O13C3_HUMAN olfactory receptor, family 13, subfamily C, member 3 154 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1) 19 TGCAGATGGCCACATAACGAT 0.483000 55 163 5.39261e-20 7.94198e-20 1 1 0 PLA2G2E 30814 broad.mit.edu 37 1 20249184 20249184 + Silent SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:20249184G>T ENST00000375116.3 - 2 162 c.105C>A c.(103-105)tcC>tcA p.S35S NM_014589.1 NP_055404.1 Q9NZK7 PA2GE_HUMAN phospholipase A2, group IIE 35 inflammatory response|lipid catabolic process|phospholipid metabolic process extracellular region calcium ion binding|phospholipase A2 activity breast(1)|endometrium(1)|large_intestine(1)|lung(6)|urinary_tract(1) 10 Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|GBM - Glioblastoma multiforme(114;0.000146)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) ACTGCAGGGCGGACTTGCCTG 0.622000 28 73 1.5548e-18 2.24705e-18 1 1 0 CLCA2 9635 broad.mit.edu 37 1 86904633 86904633 + Silent SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:86904633G>T ENST00000370565.4 + 7 1209 c.1047G>T c.(1045-1047)gtG>gtT p.V349V NM_006536.5 NP_006527.1 Q9UQC9 CLCA2_HUMAN chloride channel accessory 2 349 VWFA. cell adhesion basal plasma membrane|cell junction|extracellular region|integral to plasma membrane chloride channel activity NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 42 Lung NSC(277;0.238) all cancers(265;0.0233)|Epithelial(280;0.0452) ATACCTTCGTGGGCATTGCCA 0.423000 21 56 1.55795e-14 2.13078e-14 1 1 0 PDE1C 5137 broad.mit.edu 37 7 31864568 31864568 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr7:31864568G>T ENST00000396184.3 - 14 1523 c.1319C>A c.(1318-1320)aCt>aAt p.T440N PDE1C_ENST00000396193.1_Missense_Mutation_p.T500N|PDE1C_ENST00000396191.1_Missense_Mutation_p.T440N|PDE1C_ENST00000396182.2_Missense_Mutation_p.T440N|PDE1C_ENST00000321453.7_Missense_Mutation_p.T440N NM_005020.2 NP_005011.1 Q14123 PDE1C_HUMAN phosphodiesterase 1C, calmodulin-dependent 70kDa 440 Catalytic (By similarity). activation of phospholipase C activity|nerve growth factor receptor signaling pathway cytosol calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 81 GBM - Glioblastoma multiforme(11;0.216) CGTAAGCACAGTGAAGGTGGG 0.473000 89 54 2.02624e-56 3.30054e-56 1 1 0 PADI1 29943 broad.mit.edu 37 1 17550870 17550870 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:17550870C>A ENST00000375471.4 + 4 447 c.355C>A c.(355-357)Ctt>Att p.L119I NM_013358.2 NP_037490.2 Q9ULC6 PADI1_HUMAN peptidyl arginine deiminase, type I 119 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1) 28 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197) L-Citrulline(DB00155) AGATATTTCCCTTGAGGTTGA 0.597000 9 15 4.68919e-08 5.60056e-08 1 1 0 SECISBP2 79048 broad.mit.edu 37 9 91956281 91956281 + Missense_Mutation SNP T T C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr9:91956281T>C ENST00000375807.3 + 10 1393 c.1322T>C c.(1321-1323)gTa>gCa p.V441A SECISBP2_ENST00000534113.2_Missense_Mutation_p.V373A|SECISBP2_ENST00000339901.4_Missense_Mutation_p.V368A NM_024077.3 NP_076982.3 Q96T21 SEBP2_HUMAN SECIS binding protein 2 441 translation nucleus mRNA 3'-UTR binding breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2) 32 AAAAATAATGTAAAGAAGAGC 0.383000 7 38 0 0 1 0 0 FCGBP 8857 broad.mit.edu 37 19 40368344 40368344 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:40368344G>A ENST00000221347.6 - 28 13011 c.13004C>T c.(13003-13005)gCt>gTt p.A4335V NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 4335 extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) GACAACCCCAGCGGCCTGGCA 0.652000 13 248 0 0 1 0 0 MAGEE2 139599 broad.mit.edu 37 X 75004434 75004434 + Silent SNP A A G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chrX:75004434A>G ENST00000373359.2 - 1 645 c.453T>C c.(451-453)gcT>gcC p.A151A NM_138703.4 NP_619648.1 Q8TD90 MAGE2_HUMAN melanoma antigen family E, 2 151 MAGE 1. autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 TGTAGGTGTCAGCCTGAGGAT 0.517000 3 21 0 0 1 0 0 BAZ2B 29994 broad.mit.edu 37 2 160205777 160205777 + Silent SNP T T C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr2:160205777T>C ENST00000392783.2 - 29 5373 c.4878A>G c.(4876-4878)gtA>gtG p.V1626V BAZ2B_ENST00000355831.2_Silent_p.V1592V|BAZ2B_ENST00000392782.1_Silent_p.V1590V|BAZ2B_ENST00000343439.5_Silent_p.V1526V NM_013450.2 NP_038478.2 Q9UIF8 BAZ2B_HUMAN bromodomain adjacent to zinc finger domain, 2B 1626 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1) 82 CCATCATAGATACTCCACCTT 0.348000 23 43 0 0 1 0 0 TSHZ3 57616 broad.mit.edu 37 19 31769605 31769605 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:31769605C>A ENST00000240587.4 - 2 1421 c.1094G>T c.(1093-1095)cGg>cTg p.R365L NM_020856.2 NP_065907.2 Q63HK5 TSH3_HUMAN teashirt zinc finger homeobox 3 365 negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5) 123 Esophageal squamous(110;0.226) GTGGCCGTACCGATTATTTGG 0.557000 66 170 6.8682e-38 1.10038e-37 1 1 0 UGT1A5 54579 broad.mit.edu 37 2 234621866 234621866 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr2:234621866C>A ENST00000373414.3 + 1 229 c.229C>A c.(229-231)Ctg>Atg p.L77M UGT1A6_ENST00000480628.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A7_ENST00000373426.3_Intron NM_019078.1 NP_061951.1 cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1) 22 Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128) Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645) CTTTTTCACCCTGACAACGTA 0.493000 26 49 2.48779e-11 3.21436e-11 1 1 0 PVRIG 79037 broad.mit.edu 37 7 99818184 99818184 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr7:99818184C>T ENST00000317271.2 + 4 847 c.484C>T c.(484-486)Ccg>Tcg p.P162S GATS_ENST00000436886.2_Intron|GATS_ENST00000543273.1_RNA NM_024070.3 NP_076975.2 Q6DKI7 PVRIG_HUMAN poliovirus receptor related immunoglobulin domain containing 162 integral to membrane breast(1)|endometrium(3)|kidney(1)|lung(3)|prostate(1)|skin(2) 11 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) CTCTGCCCCGCCGACTCCTGC 0.682000 36 43 0 0 1 0 0 TNR 7143 broad.mit.edu 37 1 175375631 175375631 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:175375631G>T ENST00000367674.1 - 3 928 c.220C>A c.(220-222)Ccc>Acc p.P74T TNR_ENST00000263525.2_Missense_Mutation_p.P74T NM_003285.2 NP_003276.3 Q92752 TENR_HUMAN tenascin R 74 axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 177 Renal(580;0.146) TTGTCCAAGGGCACGTTAATG 0.557000 28 106 3.65163e-15 5.05905e-15 1 1 0 SPTAN1 6709 broad.mit.edu 37 9 131371399 131371399 + Splice_Site SNP A A G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr9:131371399A>G ENST00000358161.5 + 36 4708 c.e36-1 SPTAN1_ENST00000372739.3_Splice_Site|SPTAN1_ENST00000372731.4_Splice_Site Q13813 SPTA2_HUMAN spectrin, alpha, non-erythrocytic 1 actin filament capping|axon guidance|cellular component disassembly involved in apoptosis cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 87 TCACTCTTTCAGGTGGCGACG 0.507000 11 77 0 0 1 0 0 SPEN 23013 broad.mit.edu 37 1 16255019 16255019 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:16255019C>T ENST00000375759.3 + 11 2488 c.2284C>T c.(2284-2286)Cgg>Tgg p.R762W NM_015001.2 NP_055816.2 Q96T58 MINT_HUMAN spen family transcriptional repressor 762 Arg-rich. interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 149 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) ATCCTCAGACCGGAGTGGAAG 0.507000 28 78 0 0 1 0 0 PRKCB 5579 broad.mit.edu 37 16 24166072 24166072 + Missense_Mutation SNP T T A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr16:24166072T>A ENST00000303531.7 + 10 1285 c.1133T>A c.(1132-1134)gTg>gAg p.V378E PRKCB_ENST00000321728.7_Missense_Mutation_p.V378E NM_002738.6 NP_002729.2 P05771 KPCB_HUMAN protein kinase C, beta 378 Protein kinase. apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent cytosol|nucleus|plasma membrane androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3) 9 Vitamin E(DB00163) AAGGACGTTGTGATCCAAGAT 0.547000 28 30 0 0 1 0 0 CEACAM5 1048 broad.mit.edu 37 19 42213710 42213710 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:42213710C>A ENST00000221992.6 + 2 290 c.176C>A c.(175-177)cCc>cAc p.P59H CEACAM5_ENST00000405816.1_Missense_Mutation_p.P59H|CEA_ENST00000598976.1_Missense_Mutation_p.P59H|CEACAM5_ENST00000398599.4_Missense_Mutation_p.P59H NM_004363.2 NP_004354.2 P06731 CEAM5_HUMAN carcinoembryonic antigen-related cell adhesion molecule 5 59 Ig-like 1. anchored to membrane|basolateral plasma membrane|integral to plasma membrane breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 34 OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142) CACAATCTGCCCCAGCATCTT 0.502000 37 111 9.80977e-26 1.50193e-25 1 1 0 VN1R2 317701 broad.mit.edu 37 19 53762774 53762774 + Nonsense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:53762774C>A ENST00000341702.3 + 1 1230 c.1146C>A c.(1144-1146)tgC>tgA p.C382* VN1R2_ENST00000598458.1_Intron NM_173856.2 NP_776255.2 Q8NFZ6 VN1R2_HUMAN vomeronasal 1 receptor 2 382 response to pheromone integral to membrane|plasma membrane pheromone receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1) 31 GBM - Glioblastoma multiforme(134;0.00301) GTATCTGCTGCAGAAGAAATA 0.448000 36 79 1.07121e-22 1.61473e-22 1 1 0 ZNF716 441234 broad.mit.edu 37 7 57528885 57528885 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr7:57528885C>A ENST00000420713.1 + 4 830 c.718C>A c.(718-720)Ccc>Acc p.P240T NM_001159279.1 NP_001152751.1 zinc finger protein 716 breast(1)|kidney(1)|lung(20)|ovary(2) 24 TGGAGAGAAACCCTACAGATG 0.388000 8 17 5.18039e-06 5.84194e-06 1 1 0 ANO7 50636 broad.mit.edu 37 2 242148972 242148972 + Silent SNP G G A rs147198890 byFrequency TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr2:242148972G>A ENST00000274979.8 + 13 1546 c.1443G>A c.(1441-1443)acG>acA p.T481T ANO7_ENST00000402430.3_Silent_p.T480T NM_001001891.3 NP_001001891.2 Q6IWH7 ANO7_HUMAN anoctamin 7 481 cell junction|chloride channel complex|cytosol chloride channel activity NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2) 32 ACCCCATCACGGGTGAGGACG 0.706000 6 31 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82784328 82784328 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr7:82784328C>A ENST00000423517.2 - 2 1966 c.1629G>T c.(1627-1629)caG>caT p.Q543H PCLO_ENST00000333891.8_Missense_Mutation_p.Q543H NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 489 Pro-rich. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 CTGGGCTAGGCTGTTGAGCTG 0.547000 65 326 1.7104e-27 2.64581e-27 1 1 0 PHF3 23469 broad.mit.edu 37 6 64421916 64421916 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr6:64421916G>T ENST00000262043.3 + 16 4772 c.4432G>T c.(4432-4434)Ggt>Tgt p.G1478C PHF3_ENST00000393387.1_Missense_Mutation_p.G1478C Q92576 PHF3_HUMAN PHD finger protein 3 1478 multicellular organismal development|transcription, DNA-dependent nucleus zinc ion binding breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6) 75 all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121) LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148) GGGCACCACTGGTCAAGTATA 0.403000 16 61 6.94344e-10 8.6523e-10 1 1 0 KIF11 3832 broad.mit.edu 37 10 94393441 94393441 + Silent SNP T T C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr10:94393441T>C ENST00000260731.3 + 14 1854 c.1764T>C c.(1762-1764)tcT>tcC p.S588S NM_004523.3 NP_004514.2 P52732 KIF11_HUMAN kinesin family member 11 588 blood coagulation|cell division|microtubule-based movement|spindle assembly involved in mitosis chromatin remodeling complex|cytosol|kinesin complex|microtubule|spindle pole ATP binding|microtubule motor activity|protein kinase binding breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 CACTTGGATCTCTCACATCTA 0.333000 11 46 0 0 1 0 0 SZT2 23334 broad.mit.edu 37 1 43886530 43886530 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:43886530C>T ENST00000562955.1 + 10 1372 c.1372C>T c.(1372-1374)Cgg>Tgg p.R458W NM_015284.3 NP_056099.3 Q5T011 SZT2_HUMAN seizure threshold 2 homolog (mouse) 458 peroxisome NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 113 TCGAGTAACACGGGTGGAAGT 0.537000 5 127 0 0 1 0 0 DKC1 1736 broad.mit.edu 37 X 153994512 153994512 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chrX:153994512C>A ENST00000369550.5 + 5 495 c.285C>A c.(283-285)gaC>gaA p.D95E NM_001142463.1|NM_001363.3 NP_001135935.1|NP_001354.1 O60832 DKC1_HUMAN dyskeratosis congenita 1, dyskerin 95 cell proliferation|pseudouridine synthesis|rRNA processing|telomere maintenance via telomerase Cajal body|nucleolus|telomerase holoenzyme complex protein binding|pseudouridine synthase activity|RNA binding|telomerase activity breast(2)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1) 15 all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) TTAATCTTGACAAGCCCTCTA 0.438000 Congenital Dyskeratosis 18 72 3.99206e-14 5.43007e-14 1 1 0 PLIN3 10226 broad.mit.edu 37 19 4839317 4839317 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:4839317G>A ENST00000221957.4 - 8 1368 c.1192C>T c.(1192-1194)Cgc>Tgc p.R398C PLIN3_ENST00000592528.1_Missense_Mutation_p.R386C|PLIN3_ENST00000585479.1_Missense_Mutation_p.R397C NM_001164189.1|NM_001164194.1|NM_005817.4 NP_001157661.1|NP_001157666.1|NP_005808.3 O60664 PLIN3_HUMAN perilipin 3 398 vesicle-mediated transport endosome membrane|Golgi apparatus|lipid particle protein binding cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1) 9 Galsulfase(DB01279)|Idursulfase(DB01271) AGGGCCTCGCGGGCGCTGGCG 0.632000 16 64 0 0 1 0 0 SAP130 79595 broad.mit.edu 37 2 128757334 128757334 + Silent SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr2:128757334G>A ENST00000357702.5 - 10 1403 c.1272C>T c.(1270-1272)acC>acT p.T424T SAP130_ENST00000259234.6_Silent_p.T398T|SAP130_ENST00000259235.3_Silent_p.T424T NM_001145928.1 NP_001139400.1 Q9H0E3 SP130_HUMAN Sin3A-associated protein, 130kDa 424 histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent STAGA complex transcription coactivator activity NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2) 45 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0771) TGTTTGAGGTGGTCACAGCAG 0.527000 21 80 0 0 1 0 0 ZNF514 84874 broad.mit.edu 37 2 95815741 95815741 + Silent SNP T T C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr2:95815741T>C ENST00000295208.2 - 5 951 c.489A>G c.(487-489)agA>agG p.R163R ZNF514_ENST00000411425.1_Silent_p.R163R NM_032788.1 NP_116177.1 Q96K75 ZN514_HUMAN zinc finger protein 514 163 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(4)|lung(6)|urinary_tract(1) 11 CAAGGACTGATCTTAAACCTA 0.408000 23 107 0 0 1 0 0 GIMAP6 474344 broad.mit.edu 37 7 150325329 150325329 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr7:150325329G>A ENST00000493969.1 - 3 310 c.133C>T c.(133-135)Cgc>Tgc p.R45C GIMAP6_ENST00000328902.5_Silent_p.S119S NM_001244071.1 NP_001231000.1 Q6P9H5 GIMA6_HUMAN GTPase, IMAP family member 6 287 GTP binding endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 29 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GCCCTGGGGCGGATAAGACGA 0.627000 15 102 0 0 1 0 0 CALHM1 255022 broad.mit.edu 37 10 105215252 105215252 + Missense_Mutation SNP C C G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr10:105215252C>G ENST00000329905.5 - 2 944 c.808G>C c.(808-810)Gcc>Ccc p.A270P RP11-225H22.4_ENST00000411906.1_RNA NM_001001412.3 NP_001001412.3 Q8IU99 CAHM1_HUMAN calcium homeostasis modulator 1 270 endoplasmic reticulum membrane|integral to membrane|plasma membrane calcium channel activity|identical protein binding large_intestine(2)|liver(1)|lung(5)|ovary(1) 9 GAAGCAGGGGCCGTGGCCAGT 0.632000 3 27 0 0 1 0 0 LRRIQ3 127255 broad.mit.edu 37 1 74507409 74507409 + Silent SNP C C G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:74507409C>G ENST00000354431.4 - 7 1397 c.1206G>C c.(1204-1206)cgG>cgC p.R402R LRRIQ3_ENST00000395089.1_Silent_p.R402R NM_001105659.1 NP_001099129.1 A6PVS8 LRIQ3_HUMAN leucine-rich repeats and IQ motif containing 3 402 p.R402R(1) NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5) 73 CTTTCATACTCCGCTCCAATC 0.353000 15 60 0 0 1 0 0 TMEM198 130612 broad.mit.edu 37 2 220413918 220413918 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr2:220413918C>T ENST00000344458.2 + 5 1372 c.787C>T c.(787-789)Cgg>Tgg p.R263W TMEM198_ENST00000373883.3_Missense_Mutation_p.R263W Q66K66 TM198_HUMAN transmembrane protein 198 263 Arg-rich. integral to membrane NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 16 Renal(207;0.0376) Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802) GATGCGGATTCGGCAGCAGGA 0.637000 46 144 0 0 1 0 0 MMEL1 79258 broad.mit.edu 37 1 2525344 2525344 + Silent SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:2525344G>T ENST00000288709.6 - 19 1989 c.1749C>A c.(1747-1749)ccC>ccA p.P583P MMEL1_ENST00000378412.3_Silent_p.P592P|MMEL1_ENST00000502556.1_Silent_p.P435P NM_033467.3 NP_258428.2 Q495T6 MMEL1_HUMAN membrane metallo-endopeptidase-like 1 592 proteolysis extracellular region|integral to membrane|intracellular membrane-bounded organelle metal ion binding|metalloendopeptidase activity cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1) 27 all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634) all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123) Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131) TGCTGAAGAAGGGGGGCTGGA 0.592000 15 33 2.23348e-06 2.543e-06 1 1 0 SEZ6L2 26470 broad.mit.edu 37 16 29896959 29896959 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr16:29896959C>A ENST00000308713.5 - 8 1847 c.1320G>T c.(1318-1320)gaG>gaT p.E440D SEZ6L2_ENST00000537485.1_Missense_Mutation_p.E396D|SEZ6L2_ENST00000346932.5_Missense_Mutation_p.E326D|SEZ6L2_ENST00000350527.3_Missense_Mutation_p.E370D NM_001114099.2|NM_201575.3 NP_001107571.1|NP_963869.2 Q6UXD5 SE6L2_HUMAN seizure related 6 homolog (mouse)-like 2 440 CUB 2. endoplasmic reticulum membrane|integral to membrane|plasma membrane breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 CTGACAGCAGCTCCACGTAGA 0.607000 59 70 1.27862e-28 1.99024e-28 1 1 0 MAGED1 9500 broad.mit.edu 37 X 51638353 51638353 + Missense_Mutation SNP A A T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chrX:51638353A>T ENST00000375695.2 + 4 571 c.418A>T c.(418-420)Acc>Tcc p.T140S MAGED1_ENST00000375772.3_Missense_Mutation_p.T84S|MAGED1_ENST00000375722.1_Missense_Mutation_p.T84S|MAGED1_ENST00000326587.7_Missense_Mutation_p.T84S|MAGED1_ENST00000494718.1_3'UTR NM_001005333.1 NP_001005333.1 Q9Y5V3 MAGD1_HUMAN melanoma antigen family D, 1 84 apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent cytoplasm|plasma membrane|protein complex protein binding breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1) 32 Ovarian(276;0.236) CCAGAATGCCACCACAAAAGG 0.517000 Multiple Myeloma(10;0.10) 3 27 0 0 1 0 0 CD33 945 broad.mit.edu 37 19 51738913 51738913 + Silent SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:51738913C>A ENST00000436584.2 + 5 580 c.525C>A c.(523-525)acC>acA p.T175T CD33_ENST00000391796.3_Silent_p.T302T|CD33_ENST00000421133.2_Silent_p.T175T|CD33_ENST00000262262.4_Silent_p.T302T P20138 CD33_HUMAN CD33 molecule 302 Ig-like C2-type. cell adhesion|cell-cell signaling|negative regulation of cell proliferation external side of plasma membrane|integral to plasma membrane receptor activity|sugar binding NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1) 24 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468) Gemtuzumab ozogamicin(DB00056) CCCACCCTACCACAGGGTCAG 0.602000 6 22 0.0293803 0.0299002 1 1 0 FAM53A 152877 broad.mit.edu 37 4 1657194 1657194 + Silent SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr4:1657194C>A ENST00000308132.6 - 4 585 c.393G>T c.(391-393)gtG>gtT p.V131V FAM53A_ENST00000461064.1_Silent_p.V131V|FAM53A_ENST00000472884.2_Silent_p.V131V|FAM53A_ENST00000489363.1_Silent_p.V131V NM_001174070.1 NP_001167541.1 Q6NSI3 FA53A_HUMAN family with sequence similarity 53, member A 131 nucleus breast(2)|central_nervous_system(2)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 10 all_epithelial(65;0.206)|Breast(71;0.212) OV - Ovarian serous cystadenocarcinoma(23;0.0145) ACCGGCAGCGCACAAGCTCCT 0.697000 5 19 0.000602214 0.000639568 1 1 0 ZNF536 9745 broad.mit.edu 37 19 31040234 31040234 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:31040234G>T ENST00000355537.3 + 4 3855 c.3708G>T c.(3706-3708)caG>caT p.Q1236H NM_014717.1 NP_055532.1 O15090 ZN536_HUMAN zinc finger protein 536 1236 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding p.Q1236H(1) NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 182 Esophageal squamous(110;0.0834) GGCACAGCCAGGGTCTTCTCC 0.672000 14 30 0.000151284 0.000164325 1 1 0 HCN3 57657 broad.mit.edu 37 1 155252485 155252485 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:155252485C>A ENST00000368358.3 + 2 570 c.562C>A c.(562-564)Cta>Ata p.L188I HCN3_ENST00000496230.1_3'UTR NM_020897.1 NP_065948.1 Q9P1Z3 HCN3_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 3 188 integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) TTACATCTTCCTAGTGGTGGA 0.592000 17 112 1.45105e-14 1.99187e-14 1 1 0 DPCR1 135656 broad.mit.edu 37 6 30919715 30919715 + Translation_Start_Site SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr6:30919715G>A ENST00000304311.2 + 0 3474 DPCR1_ENST00000462446.1_Silent_p.K1158K|HCG21_ENST00000419481.1_RNA NM_080870.3 NP_543146.2 Q3MIW9 DPCR1_HUMAN diffuse panbronchiolitis critical region 1 integral to membrane endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1) 10 CCCATGAGAAGATGACACAAG 0.468000 21 20 0 0 1 0 0 UNC13D 201294 broad.mit.edu 37 17 73824987 73824987 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr17:73824987G>A ENST00000207549.4 - 31 3411 c.3032C>T c.(3031-3033)gCc>gTc p.A1011V UNC13D_ENST00000412096.2_Missense_Mutation_p.A1011V NM_199242.2 NP_954712.1 Q70J99 UN13D_HUMAN unc-13 homolog D (C. elegans) 1011 C2 2. positive regulation of exocytosis|regulation of mast cell degranulation exocytic vesicle|late endosome|lysosome|membrane|recycling endosome protein binding central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154) CAGGTCGTCGGCCCCCAGCGT 0.706000 Familial Hemophagocytic Lymphohistiocytosis 6 19 0 0 1 0 0 SLC6A20 54716 broad.mit.edu 37 3 45823592 45823592 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr3:45823592G>A ENST00000358525.4 - 2 360 c.245C>T c.(244-246)cCg>cTg p.P82L SLC6A20_ENST00000353278.4_Missense_Mutation_p.P82L|SLC6A20_ENST00000456124.2_Missense_Mutation_p.P82L NM_020208.3 NP_064593.1 Q9NP91 S6A20_HUMAN solute carrier family 6 (proline IMINO transporter), member 20 82 cellular nitrogen compound metabolic process|glycine transport|proline transport apical plasma membrane|integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1) 13 BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267) ACTGAGGTACGGGCTGATGGT 0.647000 4 13 0 0 1 0 0 WFDC5 149708 broad.mit.edu 37 20 43739149 43739149 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr20:43739149G>T ENST00000307971.4 - 3 337 c.259C>A c.(259-261)Cgc>Agc p.R87S WFDC5_ENST00000372789.4_Missense_Mutation_p.R87S Q8TCV5 WFDC5_HUMAN WAP four-disulfide core domain 5 87 WAP 2. extracellular region serine-type endopeptidase inhibitor activity kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1) 5 Myeloproliferative disorder(115;0.0122) CTGAGGCAGCGCAGTTGGTCC 0.632000 14 39 8.60227e-14 1.16094e-13 1 1 0 FAM135B 51059 broad.mit.edu 37 8 139165055 139165055 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr8:139165055C>T ENST00000395297.1 - 13 1833 c.1663G>A c.(1663-1665)Gac>Aac p.D555N NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 555 NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) GATTTTACGTCAATGTAGGTC 0.493000 HNSCC(54;0.14) 14 63 0 0 1 0 0 IBTK 25998 broad.mit.edu 37 6 82950120 82950120 + Silent SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr6:82950120C>A ENST00000306270.7 - 2 633 c.84G>T c.(82-84)ggG>ggT p.G28G IBTK_ENST00000510291.1_Silent_p.G28G|IBTK_ENST00000503631.1_Silent_p.G28G NM_015525.2 NP_056340.2 Q9P2D0 IBTK_HUMAN inhibitor of Bruton agammaglobulinemia tyrosine kinase 28 negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol cytoplasm|membrane|nucleus protein kinase binding|protein tyrosine kinase inhibitor activity central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 54 all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037) BRCA - Breast invasive adenocarcinoma(397;0.0901) GGTTTTCGCTCCCCTTTGTTA 0.453000 36 32 2.6416e-12 3.46093e-12 1 1 0 ZNF507 22847 broad.mit.edu 37 19 32845253 32845253 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:32845253G>T ENST00000311921.3 + 2 1709 c.1517G>T c.(1516-1518)aGa>aTa p.R506I ZNF507_ENST00000587084.1_3'UTR|ZNF507_ENST00000355898.5_Missense_Mutation_p.R506I|ZNF507_ENST00000544431.1_Missense_Mutation_p.R506I NM_001136156.1|NM_014910.4 NP_001129628.1|NP_055725.2 Q8TCN5 ZN507_HUMAN zinc finger protein 507 506 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R506T(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 31 Esophageal squamous(110;0.162) ATGCCTATAAGAGCTGCAGAG 0.468000 23 52 5.26018e-13 6.96081e-13 1 1 0 FRAS1 80144 broad.mit.edu 37 4 79440603 79440603 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr4:79440603C>A ENST00000264895.6 + 67 10948 c.10508C>A c.(10507-10509)tCt>tAt p.S3503Y NM_025074.6 NP_079350.5 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 3498 cell communication integral to membrane|plasma membrane metal ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4) 103 ATGGAGTTTTCTTTCTTCTAT 0.488000 64 159 2.165e-29 3.38168e-29 1 1 0 PI15 51050 broad.mit.edu 37 8 75757616 75757616 + Splice_Site SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr8:75757616G>T ENST00000260113.2 + 5 704 c.e5-1 RP11-758M4.4_ENST00000522914.1_RNA|RP11-758M4.4_ENST00000523860.1_RNA|PI15_ENST00000523773.1_Splice_Site|RP11-758M4.4_ENST00000518128.1_RNA NM_015886.3 NP_056970.1 O43692 PI15_HUMAN peptidase inhibitor 15 extracellular region peptidase inhibitor activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|skin(1) 30 Breast(64;0.137) BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118) TATTTTCACAGATGGTTTGGG 0.373000 9 42 3.09899e-07 3.62599e-07 1 1 0 TMCO2 127391 broad.mit.edu 37 1 40713882 40713882 + Nonsense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:40713882C>T ENST00000372766.3 + 1 310 c.217C>T c.(217-219)Cga>Tga p.R73* TMCO2_ENST00000468258.1_Intron NM_001008740.3 NP_001008740.1 Q7Z6W1 TMCO2_HUMAN transmembrane and coiled-coil domains 2 73 integral to membrane kidney(1)|large_intestine(3)|lung(1)|ovary(1) 6 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;6.3e-18) CTTATGGAAACGAAGTATTCA 0.323000 31 83 0 0 1 0 0 CABS1 85438 broad.mit.edu 37 4 71200777 71200777 + Silent SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr4:71200777C>A ENST00000273936.4 + 1 80 c.21C>A c.(19-21)ccC>ccA p.P7P NM_033122.3 NP_149113.3 Q96KC9 CABS1_HUMAN calcium-binding protein, spermatid-specific 1 7 flagellum calcium ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(4)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 ATGGTTTGCCCAAAATTTATT 0.463000 15 38 2.31682e-05 2.55992e-05 1 1 0 BRWD3 254065 broad.mit.edu 37 X 79978129 79978129 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chrX:79978129C>A ENST00000373275.4 - 17 2024 c.1808G>T c.(1807-1809)cGg>cTg p.R603L NM_153252.4 NP_694984.4 Q6RI45 BRWD3_HUMAN bromodomain and WD repeat domain containing 3 603 breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3) 87 TGGTACCAACCGTTGGAATTT 0.398000 13 83 0.00185496 0.00194515 1 1 0 NDC80 10403 broad.mit.edu 37 18 2572988 2572988 + Missense_Mutation SNP A A G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr18:2572988A>G ENST00000261597.4 + 2 186 c.4A>G c.(4-6)Aag>Gag p.K2E NM_006101.2 NP_006092.1 O14777 NDC80_HUMAN NDC80 kinetochore complex component 2 Interaction with the N-terminus of CDCA1.|Nuclear localization. attachment of spindle microtubules to kinetochore|cell division|establishment of mitotic spindle orientation|mitotic prometaphase|mitotic sister chromatid segregation|mitotic spindle organization|phosphatidylinositol-mediated signaling condensed nuclear chromosome outer kinetochore|cytosol|Ndc80 complex protein binding NS(1)|biliary_tract(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)|urinary_tract(2) 22 CATAAGCATGAAGCGCAGTTC 0.423000 4 32 0 0 1 0 0 STK36 27148 broad.mit.edu 37 2 219563913 219563913 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr2:219563913C>A ENST00000295709.3 + 26 3925 c.3646C>A c.(3646-3648)Ctg>Atg p.L1216M STK36_ENST00000440309.1_Missense_Mutation_p.L1216M|STK36_ENST00000392105.3_Missense_Mutation_p.L1195M|STK36_ENST00000392106.2_Missense_Mutation_p.L1195M NM_015690.4 NP_056505.2 Q9NRP7 STK36_HUMAN serine/threonine kinase 36 1216 cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus ATP binding|protein serine/threonine kinase activity|transcription factor binding biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 52 Renal(207;0.0915) Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984) TGCATCAGCTCTGGGCAACTT 0.592000 5 68 0.000602214 0.000639568 1 1 0 FLNA 2316 broad.mit.edu 37 X 153581507 153581507 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chrX:153581507C>T ENST00000422373.1 - 37 6312 c.6064G>A c.(6064-6066)Gtg>Atg p.V2022M FLNA_ENST00000360319.4_Missense_Mutation_p.V2022M|FLNA_ENST00000344736.4_Missense_Mutation_p.V1990M|FLNA_ENST00000369850.3_Missense_Mutation_p.V2030M|FLNA_ENST00000369856.3_Missense_Mutation_p.V163M NM_001456.3 NP_001447.2 P21333 FLNA_HUMAN filamin A, alpha 2030 actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering cell cortex|cytosol|extracellular region|nucleus|plasma membrane actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding breast(6) 6 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) CTGCTGGCCACGTGCTGGCCA 0.607000 15 69 0 0 1 0 0 HERC2 8924 broad.mit.edu 37 15 28389237 28389237 + Missense_Mutation SNP T T A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr15:28389237T>A ENST00000261609.7 - 73 11393 c.11285A>T c.(11284-11286)cAg>cTg p.Q3762L NM_004667.5 NP_004658.3 O95714 HERC2_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 2 3762 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) GGCACTCAGCTGTGCACAAGC 0.507000 31 41 0 0 1 0 0 FLRT2 23768 broad.mit.edu 37 14 86088908 86088908 + Silent SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr14:86088908C>A ENST00000330753.4 + 2 1817 c.1050C>A c.(1048-1050)gtC>gtA p.V350V FLRT2_ENST00000554746.1_Silent_p.V350V NM_013231.4 NP_037363.1 O43155 FLRT2_HUMAN fibronectin leucine rich transmembrane protein 2 350 LRRCT. cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity p.V350V(1) NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 73 BRCA - Breast invasive adenocarcinoma(234;0.0319) GGATGGCCGTCAGGGAATTAA 0.532000 65 180 4.10029e-35 6.51804e-35 1 1 0 OIT3 170392 broad.mit.edu 37 10 74658610 74658610 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr10:74658610G>A ENST00000334011.5 + 2 468 c.250G>A c.(250-252)Gca>Aca p.A84T NM_152635.1 NP_689848.1 Q8WWZ8 OIT3_HUMAN oncoprotein induced transcript 3 84 nuclear envelope calcium ion binding autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2) 35 Prostate(51;0.0198) TGGAACCCACGCACCTGTCTG 0.567000 16 37 0 0 1 0 0 PLTP 5360 broad.mit.edu 37 20 44538660 44538660 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr20:44538660G>A ENST00000477313.1 - 3 844 c.250C>T c.(250-252)Cca>Tca p.P84S PLTP_ENST00000372420.1_5'UTR|PLTP_ENST00000354050.4_Missense_Mutation_p.P84S|PLTP_ENST00000420868.2_Intron|PLTP_ENST00000372431.3_Missense_Mutation_p.P84S|PLTP_ENST00000542937.1_Missense_Mutation_p.P104S P55058 PLTP_HUMAN phospholipid transfer protein 84 cellular lipid metabolic process|lipid transport extracellular region lipid binding endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1) 21 Myeloproliferative disorder(115;0.0122) TCCTGCTGTGGCTGGAAATCG 0.572000 7 80 0 0 1 0 0 HOXA1 3198 broad.mit.edu 37 7 27135330 27135330 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr7:27135330G>T ENST00000343060.4 - 1 263 c.202C>A c.(202-204)Cac>Aac p.H68N HOXA1_ENST00000355633.5_Missense_Mutation_p.H68N|HOTAIRM1_ENST00000495032.1_RNA NM_005522.4 NP_005513.1 P49639 HXA1_HUMAN homeobox A1 68 Poly-His. nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 tggtggtggtggtggtggtgg 0.642000 OREG0003750 type=REGULATORY REGION|Gene=BC031342|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 43 25 6.21074e-16 8.73398e-16 1 1 0 CLEC4F 165530 broad.mit.edu 37 2 71044163 71044163 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr2:71044163C>A ENST00000272367.2 - 4 426 c.350G>T c.(349-351)tGg>tTg p.W117L CLEC4F_ENST00000426626.1_Missense_Mutation_p.W117L NM_001258027.1|NM_173535.2 NP_001244956.1|NP_775806.2 Q8N1N0 CLC4F_HUMAN C-type lectin domain family 4, member F 117 endocytosis integral to membrane receptor activity|sugar binding endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2) 37 TTCTACTACCCAGGCACTGGA 0.498000 27 62 7.41945e-09 8.95685e-09 1 1 0 XPNPEP2 7512 broad.mit.edu 37 X 128901596 128901596 + Silent SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chrX:128901596G>T ENST00000371106.3 + 20 1950 c.1758G>T c.(1756-1758)ctG>ctT p.L586L NM_003399.5 NP_003390.4 O43895 XPP2_HUMAN X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound 586 cellular process|proteolysis anchored to membrane|plasma membrane aminopeptidase activity|metal ion binding|metalloexopeptidase activity endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 37 GGAGCTACCTGACCTTTGAAG 0.572000 24 106 3.6726e-16 5.17765e-16 1 1 0 CACNA2D1 781 broad.mit.edu 37 7 81599239 81599239 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr7:81599239G>T ENST00000356860.3 - 28 2604 c.2266C>A c.(2266-2268)Cta>Ata p.L756I CACNA2D1_ENST00000535308.1_Intron|CACNA2D1_ENST00000356253.5_Missense_Mutation_p.L768I NM_000722.2 NP_000713.2 P54289 CA2D1_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 1 768 voltage-gated calcium channel complex metal ion binding breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115) TCATTATCTAGGCTCCTTTTA 0.338000 21 34 4.4004e-07 5.11935e-07 1 1 0 ZNF195 7748 broad.mit.edu 37 11 3392922 3392922 + Silent SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:3392922C>T ENST00000354599.6 - 2 119 c.15G>A c.(13-15)acG>acA p.T5T ZNF195_ENST00000005082.9_Silent_p.T5T|ZNF195_ENST00000526601.1_Silent_p.T9T|ZNF195_ENST00000343338.7_Silent_p.T9T|ZNF195_ENST00000527386.1_5'UTR|ZNF195_ENST00000399602.4_Silent_p.T5T|ZNF195_ENST00000528796.1_Silent_p.T5T|ZNF195_ENST00000438262.2_Silent_p.T9T|ZNF195_ENST00000429541.2_Silent_p.T9T NM_001242843.1|NM_001256825.1|NM_007152.4 NP_001229772.1|NP_001243754.1|NP_009083.2 O14628 ZN195_HUMAN zinc finger protein 195 0 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1) 17 Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965) BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2) CATCCCTGAACGTCAACAGAG 0.443000 9 75 0 0 1 0 0 BPIFB3 359710 broad.mit.edu 37 20 31649631 31649631 + Silent SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr20:31649631G>A ENST00000375494.3 + 5 585 c.585G>A c.(583-585)ccG>ccA p.P195P NM_182658.1 NP_872599.1 P59826 LPLC3_HUMAN BPI fold containing family B, member 3 195 Leu-rich. innate immune response cytoplasm|extracellular region lipid binding|protein binding AGGTGCTTCCGGGACTGGTGA 0.622000 5 54 0 0 1 0 0 GPR174 84636 broad.mit.edu 37 X 78427451 78427451 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chrX:78427451C>A ENST00000276077.1 + 1 983 c.947C>A c.(946-948)gCa>gAa p.A316E NM_032553.1 NP_115942.1 Q9BXC1 GP174_HUMAN G protein-coupled receptor 174 316 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled p.A316E(1) central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 38 CAACTCCATGCAAAATCCTTT 0.398000 HNSCC(63;0.18) 22 34 2.21704e-12 2.90638e-12 1 1 0 MAP4K1 11184 broad.mit.edu 37 19 39086640 39086640 + Splice_Site SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:39086640C>T ENST00000591517.1 - 27 2146 c.2116_splice c.e27-1 p.E706_splice MAP4K1_ENST00000589130.1_Splice_Site_p.E702_splice|MAP4K1_ENST00000586296.1_Intron|MAP4K1_ENST00000396857.2_Splice_Site_p.E706_splice NM_007181.4 NP_009112.1 Q92918 M4K1_HUMAN mitogen-activated protein kinase kinase kinase kinase 1 706 CNH. activation of JUN kinase activity|peptidyl-serine phosphorylation ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1) 44 all_cancers(60;6.42e-06)|Ovarian(47;0.103) Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272) GTCCCCTGTGCTCTGTTTGGG 0.602000 9 149 0 0 1 0 0 KRT83 3889 broad.mit.edu 37 12 52714928 52714928 + Silent SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr12:52714928G>A ENST00000293670.3 - 1 254 c.192C>T c.(190-192)tgC>tgT p.C64C NM_002282.3 NP_002273.3 P78385 KRT83_HUMAN keratin 83 64 Head. epidermis development keratin filament structural molecule activity NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1) 32 Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088) BRCA - Breast invasive adenocarcinoma(357;0.189) AGCTGCGTCCGCAGGAGCCGG 0.726000 30 55 0 0 1 0 0 ISY1-RAB43 100534599 broad.mit.edu 37 3 128849434 128849434 + Nonsense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr3:128849434G>A ENST00000418265.1 - 10 769 c.709C>T c.(709-711)Cag>Tag p.Q237* ISY1_ENST00000471497.1_5'UTR|ISY1_ENST00000393295.3_Nonsense_Mutation_p.Q237*|ISY1_ENST00000393292.3_Missense_Mutation_p.A238V|ISY1_ENST00000273541.8_Nonsense_Mutation_p.Q259* NM_001204890.1 NP_001191819.1 Q9ULR0 ISY1_HUMAN 237 catalytic step 2 spliceosome ATGAACTTCTGCTGGCTGTCG 0.557000 15 46 0 0 1 0 0 GLTPD2 388323 broad.mit.edu 37 17 4692555 4692555 + Silent SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr17:4692555C>A ENST00000331264.7 + 2 194 c.141C>A c.(139-141)ccC>ccA p.P47P NM_001014985.2 NP_001014985.2 glycolipid transfer protein domain containing 2 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1) 4 GGGCGCAGCCCTGCGTTCCAG 0.692000 5 8 0.014758 0.0151151 1 1 0 CAPN15 6650 broad.mit.edu 37 16 602998 602998 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr16:602998C>T ENST00000219611.2 + 13 3403 c.3040C>T c.(3040-3042)Cgc>Tgc p.R1014C LA16c-366D1.3_ENST00000565879.1_RNA NM_005632.2 NP_005623.1 calpain 15 GGTGTCCACACGCGGCAGCCT 0.701000 13 61 0 0 1 0 0 GALP 85569 broad.mit.edu 37 19 56688562 56688562 + Missense_Mutation SNP C C T rs139843226 TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:56688562C>T ENST00000357330.2 + 2 167 c.85C>T c.(85-87)Cgg>Tgg p.R29W GALP_ENST00000440823.1_Missense_Mutation_p.R29W|GALP_ENST00000590002.1_Missense_Mutation_p.R29W NM_033106.3 NP_149097.1 Q9UBC7 GALP_HUMAN galanin-like peptide 29 neuropeptide signaling pathway extracellular region hormone activity lung(4) 4 Colorectal(82;0.000147)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0507) ACCTGCCCACCGGGTAACGCC 0.587000 7 28 0 0 1 0 0 PRPF4 9128 broad.mit.edu 37 9 116052753 116052753 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr9:116052753C>T ENST00000374199.4 + 11 1431 c.1030C>T c.(1030-1032)Cgt>Tgt p.R344C PRPF4_ENST00000374198.4_Missense_Mutation_p.R345C O43172 PRP4_HUMAN pre-mRNA processing factor 4 345 Cajal body|nuclear speck|spliceosomal complex|U4/U6 snRNP protein binding NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2) 23 TAGCTATGACCGTTCATGGCG 0.408000 4 117 0 0 1 0 0 CXorf57 55086 broad.mit.edu 37 X 105905390 105905390 + Silent SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chrX:105905390G>T ENST00000372548.4 + 12 2233 c.2124G>T c.(2122-2124)cgG>cgT p.R708R CXorf57_ENST00000497124.1_3'UTR|CXorf57_ENST00000372544.2_Silent_p.R611R NM_018015.5 NP_060485.4 Q6NSI4 CX057_HUMAN chromosome X open reading frame 57 708 NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 31 GTATTCCACGGAAATTTATGT 0.408000 9 79 0.000442599 0.00047184 1 1 0 TF 7018 broad.mit.edu 37 3 133495985 133495985 + Silent SNP A A G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr3:133495985A>G ENST00000402696.3 + 16 2450 c.1965A>G c.(1963-1965)gtA>gtG p.V655V TF_ENST00000264998.3_Silent_p.V528V NM_001063.3 NP_001054.1 P02787 TRFE_HUMAN transferrin 655 Transferrin-like 2. cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule ferric iron binding NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893) ATGACACAGTATGTTTGGCCA 0.433000 16 42 0 0 1 0 0 SYNE2 23224 broad.mit.edu 37 14 64484401 64484401 + Translation_Start_Site SNP A A T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr14:64484401A>T ENST00000357395.3 + 0 5206 SYNE2_ENST00000344113.4_Missense_Mutation_p.D1659V|SYNE2_ENST00000358025.3_Missense_Mutation_p.D1659V|SYNE2_ENST00000554584.1_Missense_Mutation_p.D1659V Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) AATGTCATTGATGAGTGGACA 0.333000 9 128 0 0 1 0 0 CHRNB2 1141 broad.mit.edu 37 1 154543958 154543958 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:154543958C>T ENST00000368476.3 + 5 923 c.659C>T c.(658-660)aCg>aTg p.T220M NM_000748.2 NP_000739.1 P17787 ACHB2_HUMAN cholinergic receptor, nicotinic, beta 2 (neuronal) 220 B cell activation|behavioral response to nicotine|calcium ion transport|central nervous system projection neuron axonogenesis|lateral geniculate nucleus development|locomotory behavior|membrane depolarization|memory|negative regulation of action potential|optic nerve morphogenesis|positive regulation of B cell proliferation|positive regulation of dopamine secretion|regulation of circadian sleep/wake cycle, REM sleep|regulation of dendrite morphogenesis|regulation of dopamine metabolic process|regulation of synaptogenesis|response to cocaine|response to ethanol|response to hypoxia|sensory perception of pain|sensory perception of sound|smooth muscle contraction|social behavior|synaptic transmission involved in micturition|synaptic transmission, cholinergic|vestibulocochlear nerve development|visual learning|visual perception cell junction|external side of plasma membrane|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3) 28 all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) LUSC - Lung squamous cell carcinoma(543;0.185) Nicotine(DB00184) GACGACTCTACGTACGTGGAC 0.587000 10 133 0 0 1 0 0 KRTAP19-6 337973 broad.mit.edu 37 21 31914063 31914063 + Nonsense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr21:31914063G>T ENST00000334046.5 - 1 120 c.90C>A c.(88-90)taC>taA p.Y30* NM_181612.2 NP_853643.1 Q3LI70 KR196_HUMAN keratin associated protein 19-6 30 intermediate filament p.Y30*(1) breast(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1) 9 AGCCATATCTGTAGCCTCCAC 0.512000 64 73 1.02487e-32 1.62114e-32 1 1 0 GHSR 2693 broad.mit.edu 37 3 172165385 172165385 + Silent SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr3:172165385C>T ENST00000427970.1 - 1 860 c.819G>A c.(817-819)agG>agA p.R273R GHSR_ENST00000241256.2_Intron NM_004122.2 NP_004113.1 Q92847 GHSR_HUMAN growth hormone secretagogue receptor 0 actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 33 Ovarian(172;0.00143)|Breast(254;0.197) Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235) CGAGAGAAAGCCTGAGCGCGC 0.592000 17 54 0 0 1 0 0 TRRAP 8295 broad.mit.edu 37 7 98576479 98576479 + Silent SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr7:98576479C>T ENST00000359863.4 + 57 8774 c.8565C>T c.(8563-8565)tgC>tgT p.C2855C TRRAP_ENST00000446306.3_Silent_p.C2837C|TRRAP_ENST00000355540.3_Silent_p.C2837C NM_001244580.1 NP_001231509.1 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated protein 2855 FAT. histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity p.C2837C(1)|p.C2855C(1) NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2) 176 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) TCCTGGAGTGCGCCTGGCGGG 0.617000 56 58 0 0 1 0 0 CLEC4F 165530 broad.mit.edu 37 2 71039601 71039601 + Missense_Mutation SNP G G C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr2:71039601G>C ENST00000272367.2 - 5 1593 c.1517C>G c.(1516-1518)tCt>tGt p.S506C CLEC4F_ENST00000426626.1_Missense_Mutation_p.S506C NM_001258027.1|NM_173535.2 NP_001244956.1|NP_775806.2 Q8N1N0 CLC4F_HUMAN C-type lectin domain family 4, member F 506 C-type lectin. endocytosis integral to membrane receptor activity|sugar binding endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2) 37 GGAGGCCACAGATGCCAGATG 0.512000 41 89 0 0 1 0 0 NLN 57486 broad.mit.edu 37 5 65073271 65073271 + Silent SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr5:65073271G>A ENST00000380985.5 + 4 646 c.468G>A c.(466-468)ggG>ggA p.G156G NLN_ENST00000502464.1_Silent_p.G52G NM_020726.4 NP_065777.1 Q9BYT8 NEUL_HUMAN neurolysin (metallopeptidase M3 family) 156 proteolysis mitochondrial intermembrane space metal ion binding|metalloendopeptidase activity central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 26 Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186) UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616) GTGATCTGGGGAAGATAAAAC 0.378000 104 66 0 0 1 0 0 OR6Y1 391112 broad.mit.edu 37 1 158517517 158517517 + Missense_Mutation SNP G G T rs142732842 TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:158517517G>T ENST00000302617.3 - 1 378 c.379C>A c.(379-381)Cgc>Agc p.R127S NM_001005189.1 NP_001005189.1 Q8NGX8 OR6Y1_HUMAN olfactory receptor, family 6, subfamily Y, member 1 127 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 30 all_hematologic(112;0.0378) GCTACATAGCGGTCAAAGGCC 0.468000 27 118 1.5548e-18 2.24705e-18 1 1 0 ST6GAL2 84620 broad.mit.edu 37 2 107460319 107460319 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr2:107460319C>T ENST00000409382.3 - 2 725 c.115G>A c.(115-117)Gta>Ata p.V39I ST6GAL2_ENST00000361686.4_Missense_Mutation_p.V39I|ST6GAL2_ENST00000409087.3_Missense_Mutation_p.V39I NM_001142351.1 NP_001135823.1 Q96JF0 SIAT2_HUMAN ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 39 growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,6-sialyltransferase activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 65 GAGCTGGGTACAGGCTCAGCG 0.597000 10 28 0 0 1 0 0 NUDT10 170685 broad.mit.edu 37 X 51076024 51076024 + Silent SNP G G A rs143435240 byFrequency TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chrX:51076024G>A ENST00000376006.3 + 2 427 c.207G>A c.(205-207)gaG>gaA p.E69E NUDT10_ENST00000356450.2_Silent_p.E69E NM_153183.2 NP_694853.1 Q8NFP7 NUD10_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 10 69 Nudix hydrolase. cytoplasm diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding p.E69E(8) cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(1)|prostate(3)|upper_aerodigestive_tract(1) 16 Ovarian(276;0.236) TGTACGAAGAGGCGGGAGTCA 0.657000 8 36 0 0 1 0 0 ROBO3 64221 broad.mit.edu 37 11 124749231 124749231 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:124749231G>A ENST00000397801.1 + 24 3871 c.3679G>A c.(3679-3681)Gcc>Acc p.A1227T ROBO3_ENST00000538940.1_Missense_Mutation_p.A1205T|ROBO3_ENST00000543966.1_5'UTR|ROBO3_ENST00000525482.1_3'UTR NM_022370.3 NP_071765.2 Q96MS0 ROBO3_HUMAN roundabout, axon guidance receptor, homolog 3 (Drosophila) 1227 axon midline choice point recognition integral to membrane receptor activity breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 35 all_hematologic(175;0.215) Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296) AGCCAGCAGTGCCCCAGGTAA 0.622000 5 19 0 0 1 0 0 GGT3P 2679 broad.mit.edu 37 22 18769223 18769223 + RNA SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr22:18769223C>A ENST00000412448.1 - 0 1063 GTCTCTCCCCCTCCCGAAGCA 0.642000 7 35 0.00136819 0.0014374 1 1 0 MUC16 94025 broad.mit.edu 37 19 9062572 9062572 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:9062572C>T ENST00000397910.4 - 3 25077 c.24874G>A c.(24874-24876)Gct>Act p.A8292T NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 8294 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GGAAGAGAAGCGGAAGGGAAA 0.507000 17 54 0 0 1 0 0 RSPO1 284654 broad.mit.edu 37 1 38079496 38079496 + Silent SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:38079496G>T ENST00000356545.2 - 7 1292 c.505C>A c.(505-507)Cgg>Agg p.R169R RSPO1_ENST00000401070.1_Intron|RSPO1_ENST00000401068.1_Silent_p.R169R|RSPO1_ENST00000401071.2_Intron|RSPO1_ENST00000401069.1_Silent_p.R169R|RSPO1_ENST00000373059.1_Silent_p.R142R NM_001038633.3 NP_001033722.1 Q2MKA7 RSPO1_HUMAN R-spondin 1 169 TSP type-1. positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization heparin binding breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5) 12 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) GAGCCCCTCCGGAAACCACAG 0.627000 17 70 6.94344e-10 8.6523e-10 1 1 0 NELFB 25920 broad.mit.edu 37 9 140150830 140150830 + Missense_Mutation SNP A A T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr9:140150830A>T ENST00000343053.4 + 3 653 c.316A>T c.(316-318)Atg>Ttg p.M106L NM_015456.3 NP_056271.2 negative elongation factor complex member B TCTGGTGAAGATGCCGTCCCT 0.572000 76 41 0 0 1 0 0 TBX4 9496 broad.mit.edu 37 17 59560456 59560456 + Missense_Mutation SNP G G T rs145825881 TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr17:59560456G>T ENST00000393853.4 + 9 1383 c.1220G>T c.(1219-1221)gGg>gTg p.G407V TBX4_ENST00000589449.1_Intron|TBX4_ENST00000240335.1_Missense_Mutation_p.G406V P57082 TBX4_HUMAN T-box 4 406 leg morphogenesis|skeletal system morphogenesis nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 GGGGTGTCTGGGGTGGACGAC 0.592000 16 75 1.99824e-07 2.35278e-07 1 1 0 MIR587 693172 broad.mit.edu 37 6 107232061 107232061 + RNA SNP T T C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr6:107232061T>C ENST00000384845.1 + 0 62 NR_030314.1 tgtctgcacctgtgactcatc 0.527000 21 29 0 0 1 0 0 CBX2 84733 broad.mit.edu 37 17 77755612 77755612 + Silent SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr17:77755612C>T ENST00000269399.5 + 4 342 c.300C>T c.(298-300)tgC>tgT p.C100C CBX2_ENST00000310942.4_Intron NM_032647.3 NP_116036.1 Q14781 CBX2_HUMAN chromobox homolog 2 196 Ser-rich. cell differentiation|chromatin modification|development of primary sexual characteristics|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent PcG protein complex DNA binding breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1) 16 OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224) TGGGTGGCTGCGCTGGGTATG 0.667000 7 91 0 0 1 0 0 YAE1D1 57002 broad.mit.edu 37 7 39606093 39606093 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr7:39606093G>A ENST00000432096.2 + 1 89 c.76G>A c.(76-78)Gag>Aag p.E26K YAE1D1_ENST00000223273.2_Missense_Mutation_p.E26K|YAE1D1_ENST00000448268.1_Missense_Mutation_p.E26K Q9NRH1 CG036_HUMAN Yae1 domain containing 1 26 AGAAGCAGACGAGTCGCTCCT 0.592000 22 59 0 0 1 0 0 KCNH5 27133 broad.mit.edu 37 14 63174948 63174948 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr14:63174948C>T ENST00000322893.7 - 11 2513 c.2245G>A c.(2245-2247)Gga>Aga p.G749R KCNH5_ENST00000420622.2_3'UTR NM_139318.3 NP_647479.2 Q8NCM2 KCNH5_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 5 749 regulation of transcription, DNA-dependent integral to membrane calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2) 99 OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168) ACGCTGGTTCCGGTGATGGAG 0.537000 15 51 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9056249 9056249 + Silent SNP G G C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:9056249G>C ENST00000397910.4 - 3 31400 c.31197C>G c.(31195-31197)acC>acG p.T10399T NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 10401 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CTGTCATTCTGGTATCCAAAA 0.488000 54 150 0 0 1 0 0 OVCH2 341277 broad.mit.edu 37 11 7723269 7723269 + RNA SNP T T A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:7723269T>A ENST00000454689.1 - 0 552 OVCH2_ENST00000534193.1_RNA NM_198185.3 NP_937828.3 ovochymase 2 (gene/pseudogene) cervix(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(2) 15 Epithelial(150;7.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.197) TTACCTTCAGTTAAGCGGCCC 0.443000 3 9 0 0 1 0 0 NAPSA 9476 broad.mit.edu 37 19 50862277 50862277 + Silent SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:50862277G>A ENST00000253719.2 - 8 1234 c.1026C>T c.(1024-1026)taC>taT p.Y342Y NR1H2_ENST00000542413.1_Intron|NR1H2_ENST00000600978.1_Intron NM_004851.1 NP_004842.1 O96009 NAPSA_HUMAN napsin A aspartic peptidase 342 proteolysis extracellular region aspartic-type endopeptidase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3) 12 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183) CCTGGATGACGTAATCATGGG 0.552000 11 53 0 0 1 0 0 LRRTM4 80059 broad.mit.edu 37 2 77745818 77745818 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr2:77745818C>A ENST00000409088.3 - 3 1591 c.1177G>T c.(1177-1179)Gac>Tac p.D393Y LRRTM4_ENST00000409282.1_Missense_Mutation_p.D394Y|LRRTM4_ENST00000409093.1_Missense_Mutation_p.D393Y|LRRTM4_ENST00000409884.1_Missense_Mutation_p.D393Y|LRRTM4_ENST00000409911.1_Missense_Mutation_p.D394Y NM_024993.4 NP_079269.4 Q86VH4 LRRT4_HUMAN leucine rich repeat transmembrane neuronal 4 393 integral to membrane autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1) 64 Colorectal(11;0.059) TGGGTGACGTCAGGTTTGAAG 0.478000 19 43 1.15919e-05 1.2942e-05 1 1 0 KMT2C 58508 broad.mit.edu 37 7 151970887 151970887 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr7:151970887C>A ENST00000355193.2 - 7 1133 c.915G>T c.(913-915)atG>atT p.M305I KMT2C_ENST00000262189.6_Missense_Mutation_p.M305I lysine (K)-specific methyltransferase 2C p.M305I(4) GATAATGATACATCTGGGTAC 0.433000 5 115 2.0095e-06 2.29496e-06 1 1 0 SERGEF 26297 broad.mit.edu 37 11 18028188 18028188 + Missense_Mutation SNP C C G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:18028188C>G ENST00000265965.5 - 3 453 c.302G>C c.(301-303)tGt>tCt p.C101S RP1-59M18.2_ENST00000525523.1_RNA|SERGEF_ENST00000532265.1_5'UTR|SERGEF_ENST00000528200.1_Missense_Mutation_p.C101S|SERGEF_ENST00000532212.1_5'UTR NM_012139.2 NP_036271.1 Q9UGK8 SRGEF_HUMAN secretion regulating guanine nucleotide exchange factor 101 negative regulation of protein secretion|signal transduction cytoplasm|nucleus protein binding|Ran guanyl-nucleotide exchange factor activity p.C101Y(1) autonomic_ganglia(1)|central_nervous_system(1)|large_intestine(5)|lung(5) 12 TTGGATGGGACAGCCAAAGAG 0.498000 43 101 0 0 1 0 0 CDH2 1000 broad.mit.edu 37 18 25593647 25593647 + Splice_Site SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr18:25593647C>A ENST00000269141.3 - 3 822 c.399_splice c.e3+1 p.K133_splice CDH2_ENST00000399380.3_Splice_Site_p.K102_splice NM_001792.3 NP_001783.2 P19022 CADH2_HUMAN cadherin 2, type 1, N-cadherin (neuronal) 133 adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation catenin complex|integral to membrane alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 82 GATACTATACCTTCACTGACT 0.413000 71 79 2.51111e-31 3.95534e-31 1 1 0 RHBG 57127 broad.mit.edu 37 1 156351713 156351713 + Silent SNP G G C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:156351713G>C ENST00000400992.2 + 6 1229 c.861G>C c.(859-861)acG>acC p.T287T RHBG_ENST00000537040.1_Silent_p.T157T|RHBG_ENST00000451864.2_Intron|RHBG_ENST00000368249.1_Silent_p.T319T|RHBG_ENST00000255013.3_Silent_p.T250T|RHBG_ENST00000368246.2_Silent_p.T319T Q9H310 RHBG_HUMAN Rh family, B glycoprotein (gene/pseudogene) 319 transepithelial ammonium transport anchored to plasma membrane|basolateral plasma membrane|cytoplasmic vesicle membrane|integral to plasma membrane|spectrin-associated cytoskeleton ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1) 22 Hepatocellular(266;0.158) CTGTCTCCACGCTGGGGTACA 0.577000 22 92 0 0 1 0 0 SLC17A6 57084 broad.mit.edu 37 11 22380970 22380970 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:22380970C>A ENST00000263160.3 + 4 907 c.470C>A c.(469-471)gCt>gAt p.A157D NM_020346.2 NP_065079.1 Q9P2U8 VGLU2_HUMAN solute carrier family 17 (vesicular glutamate transporter), member 6 157 sodium ion transport cell junction|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|symporter activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3) 50 GTTTTCGGAGCTGCCATACTT 0.363000 12 30 7.03913e-09 8.50688e-09 1 1 0 LIG1 3978 broad.mit.edu 37 19 48653362 48653362 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:48653362G>A ENST00000263274.7 - 8 1099 c.680C>T c.(679-681)aCg>aTg p.T227M LIG1_ENST00000599165.1_5'UTR|LIG1_ENST00000536218.1_Missense_Mutation_p.T159M|LIG1_ENST00000427526.2_Missense_Mutation_p.T196M NM_000234.1 NP_000225.1 P18858 DNLI1_HUMAN ligase I, DNA, ATP-dependent 227 anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1) 44 all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203) OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329) Bleomycin(DB00290) GCTGCTGAGCGTCTTGGGAGC 0.617000 Nucleotide excision repair (NER) 13 65 0 0 1 0 0 RGAG1 57529 broad.mit.edu 37 X 109694722 109694722 + Missense_Mutation SNP G G C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chrX:109694722G>C ENST00000465301.2 + 3 1123 c.877G>C c.(877-879)Gga>Cga p.G293R RGAG1_ENST00000540313.1_Missense_Mutation_p.G293R NM_020769.2 NP_065820.1 Q8NET4 RGAG1_HUMAN retrotransposon gag domain containing 1 293 NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 73 AAACTCTGGGGGAATACCTAC 0.483000 18 120 0 0 1 0 0 LRRC8C 84230 broad.mit.edu 37 1 90180271 90180271 + Silent SNP A A T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:90180271A>T ENST00000370454.4 + 3 2397 c.2142A>T c.(2140-2142)acA>acT p.T714T LRRC8C_ENST00000479252.1_Intron|RP11-302M6.4_ENST00000370453.5_Intron NM_032270.4 NP_115646.2 Q8TDW0 LRC8C_HUMAN leucine rich repeat containing 8 family, member C 714 endoplasmic reticulum membrane|integral to membrane breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1) 28 all_lung(203;0.126) all cancers(265;0.00756)|Epithelial(280;0.0313) TTTCCATCACATGTAACAAAG 0.368000 18 43 0 0 1 0 0 ZC3H7B 23264 broad.mit.edu 37 22 41738571 41738571 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr22:41738571G>T ENST00000352645.4 + 12 1493 c.1236G>T c.(1234-1236)aaG>aaT p.K412N ZC3H7B_ENST00000351589.4_Missense_Mutation_p.K412N NM_017590.4 NP_060060.3 Q9UGR2 Z3H7B_HUMAN zinc finger CCCH-type containing 7B 428 interspecies interaction between organisms nucleus nucleic acid binding|protein binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 38 TGCTCATCAAGAACCCCTTGG 0.602000 5 99 0.00116845 0.00122986 1 1 0 PCSK5 5125 broad.mit.edu 37 9 78973725 78973725 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr9:78973725G>A ENST00000545128.1 + 37 6008 c.5470G>A c.(5470-5472)Gtc>Atc p.V1824I NM_001190482.1 NP_001177411.1 Q92824 PCSK5_HUMAN proprotein convertase subtilisin/kexin type 5 641 anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release extracellular space|Golgi lumen|stored secretory granule peptide binding|serine-type endopeptidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 TGATGACATCGTCTACATGGG 0.463000 58 117 0 0 1 0 0 GPR50 9248 broad.mit.edu 37 X 150348992 150348992 + Silent SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chrX:150348992C>A ENST00000218316.3 + 2 1006 c.937C>A c.(937-939)Cgg>Agg p.R313R NM_004224.3 NP_004215.2 Q13585 MTR1L_HUMAN G protein-coupled receptor 50 313 cell-cell signaling integral to plasma membrane melatonin receptor activity breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1) 38 Acute lymphoblastic leukemia(192;6.56e-05) CCATGCTATGCGGCACCCTAT 0.542000 27 163 3.65163e-15 5.05905e-15 1 1 0 TPSD1 23430 broad.mit.edu 37 16 1306532 1306532 + Missense_Mutation SNP T T C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr16:1306532T>C ENST00000211076.3 + 2 246 c.98T>C c.(97-99)cTg>cCg p.L33P TPSD1_ENST00000397534.2_Missense_Mutation_p.L26P NM_012217.2 NP_036349.1 Q9BZJ3 TRYD_HUMAN tryptase delta 1 33 proteolysis extracellular region serine-type endopeptidase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|skin(1)|stomach(2)|upper_aerodigestive_tract(3) 20 Hepatocellular(780;0.00369) GGCCAGGCCCTGCAGCAAACG 0.706000 44 80 0 0 1 0 0 CNOT6 57472 broad.mit.edu 37 5 179991506 179991506 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr5:179991506G>T ENST00000393356.1 + 7 827 c.403G>T c.(403-405)Gat>Tat p.D135Y CNOT6_ENST00000502447.1_3'UTR|CNOT6_ENST00000261951.4_Missense_Mutation_p.D135Y Q9ULM6 CNOT6_HUMAN CCR4-NOT transcription complex, subunit 6 135 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus exonuclease activity|metal ion binding|protein binding|RNA binding central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|skin(1) 23 all_cancers(89;3.3e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00543)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) OV - Ovarian serous cystadenocarcinoma(192;0.023) CCTTACCCAGGATATATTGAA 0.303000 27 46 4.22769e-11 5.44046e-11 1 1 0 ABCA13 154664 broad.mit.edu 37 7 48327585 48327585 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr7:48327585G>T ENST00000435803.1 + 20 8889 c.8865G>T c.(8863-8865)ttG>ttT p.L2955F NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 2955 transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 AGGACATTTTGTGTGCTACTC 0.448000 73 91 8.16569e-41 1.31483e-40 1 1 0 NBAS 51594 broad.mit.edu 37 2 15506814 15506814 + Missense_Mutation SNP C C G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr2:15506814C>G ENST00000281513.5 - 32 3732 c.3707G>C c.(3706-3708)cGa>cCa p.R1236P NBAS_ENST00000441750.1_Missense_Mutation_p.R1116P NM_015909.3 NP_056993.2 A2RRP1 NBAS_HUMAN neuroblastoma amplified sequence 1236 NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3) 112 AGGGCACAATCGCACTACAAA 0.458000 31 68 0 0 1 0 0 SMARCA4 6597 broad.mit.edu 37 19 11097630 11097630 + Silent SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:11097630C>T ENST00000358026.2 + 5 1094 c.810C>T c.(808-810)ccC>ccT p.P270P SMARCA4_ENST00000344626.4_Silent_p.P270P|SMARCA4_ENST00000450717.3_Silent_p.P270P|SMARCA4_ENST00000444061.3_Silent_p.P270P|SMARCA4_ENST00000429416.3_Silent_p.P270P|SMARCA4_ENST00000413806.3_Silent_p.P270P|SMARCA4_ENST00000590574.1_Silent_p.P270P|SMARCA4_ENST00000589677.1_Silent_p.P270P|SMARCA4_ENST00000541122.2_Silent_p.P270P NM_001128849.1 NP_001122321.1 P51532 SMCA4_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 270 Necessary for interaction with SS18L1/CREST (By similarity). chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity p.?(1) adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 163 all_lung(6;0.0512)|Lung NSC(9;0.0568) GCGTGCCCCCCGGGATGCCAG 0.622000 """F, N, Mis""" NSCLC 25 53 0 0 1 0 0 NPPB 4879 broad.mit.edu 37 1 11918483 11918483 + Missense_Mutation SNP A A G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:11918483A>G ENST00000376468.3 - 2 273 c.176T>C c.(175-177)gTg>gCg p.V59A NM_002521.2 NP_002512.1 P16860 ANFB_HUMAN natriuretic peptide B 59 body fluid secretion|cGMP biosynthetic process|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation extracellular space diuretic hormone activity haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(1) 11 Ovarian(185;0.249) Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) Carvedilol(DB01136)|Nesiritide(DB04899)|Testosterone(DB00624) TGTCTGCTCCACCTGCAGCTC 0.657000 21 31 0 0 1 0 0 PSD 5662 broad.mit.edu 37 10 104173627 104173627 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr10:104173627C>A ENST00000020673.5 - 5 1978 c.1452G>T c.(1450-1452)gaG>gaT p.E484D PSD_ENST00000406432.1_Missense_Mutation_p.E484D NM_001270966.1|NM_002779.3 NP_001257895.1|NP_002770.3 A5PKW4 PSD1_HUMAN pleckstrin and Sec7 domain containing 484 Poly-Glu. regulation of ARF protein signal transduction cytoplasm|plasma membrane|ruffle ARF guanyl-nucleotide exchange factor activity|signal transducer activity breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 Epithelial(162;1.27e-08)|all cancers(201;2.85e-07) CTGCCTCCTCCTCCTCCCCTC 0.677000 8 49 0.00307968 0.00321738 1 1 0 NPBWR2 2832 broad.mit.edu 37 20 62737407 62737407 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr20:62737407C>T ENST00000369768.1 - 1 1117 c.778G>A c.(778-780)Gtc>Atc p.V260I NM_005286.2 NP_005277.2 P48146 NPBW2_HUMAN neuropeptides B/W receptor 2 260 plasma membrane opioid receptor activity|protein binding haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09) AGGACCAGGACGGTCACCTTC 0.682000 4 25 0 0 1 0 0 NLRP4 147945 broad.mit.edu 37 19 56382275 56382275 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:56382275G>T ENST00000301295.6 + 7 2859 c.2437G>T c.(2437-2439)Gac>Tac p.D813Y NLRP4_ENST00000346986.5_Missense_Mutation_p.D757Y|NLRP4_ENST00000587891.1_Missense_Mutation_p.D738Y NM_134444.4 NP_604393.2 Q96MN2 NALP4_HUMAN NLR family, pyrin domain containing 4 813 ATP binding breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8) 42 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) GCGCTATCTAGACCTCAGTGC 0.512000 22 57 3.62473e-10 4.55223e-10 1 1 0 RTCB 51493 broad.mit.edu 37 22 32784073 32784073 + Missense_Mutation SNP T T C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr22:32784073T>C ENST00000216038.5 - 12 1522 c.1424A>G c.(1423-1425)tAt>tGt p.Y475C RTCB_ENST00000451746.2_3'UTR NM_014306.4 NP_055121.1 RNA 2',3'-cyclic phosphate and 5'-OH ligase CACATTCTTATAGGACTCAGG 0.398000 10 17 0 0 1 0 0 RIPK4 54101 broad.mit.edu 37 21 43162145 43162145 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr21:43162145G>A ENST00000352483.2 - 9 1416 c.1352C>T c.(1351-1353)aCa>aTa p.T451I RIPK4_ENST00000332512.3_Missense_Mutation_p.T403I|RIPK4_ENST00000542057.1_Missense_Mutation_p.T340I|RIPK4_ENST00000544709.1_Missense_Mutation_p.T340I Q96T11 Q96T11_HUMAN receptor-interacting serine-threonine kinase 4 403 cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 CTGGACGTCTGTGGTGCCCAG 0.617000 44 218 0 0 1 0 0 NECAP1 25977 broad.mit.edu 37 12 8245515 8245515 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr12:8245515G>T ENST00000339754.5 + 6 618 c.540G>T c.(538-540)agG>agT p.R180S NM_015509.3 NP_056324.2 Q8NC96 NECP1_HUMAN NECAP endocytosis associated 1 180 endocytosis|protein transport clathrin coated vesicle membrane|plasma membrane cervix(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 Kidney(36;0.0915) GGACTGCAAGGGGTGGGGGTC 0.502000 37 113 9.80977e-26 1.50193e-25 1 1 0 DDB1 1642 broad.mit.edu 37 11 61079460 61079460 + Splice_Site SNP C C G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:61079460C>G ENST00000301764.7 - 17 2563 c.e17+1 DDB1_ENST00000450997.2_Intron NM_001923.4 NP_001914.3 Q16531 DDB1_HUMAN damage-specific DNA binding protein 1, 127kDa cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm damaged DNA binding|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 48 CTGGGCCTCACCTTGGAGACT 0.542000 Nucleotide excision repair (NER) 57 138 0 0 1 0 0 TMEM215 401498 broad.mit.edu 37 9 32784316 32784316 + Silent SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr9:32784316C>A ENST00000342743.5 + 2 500 c.135C>A c.(133-135)atC>atA p.I45I NM_212558.2 NP_997723.2 Q68D42 TM215_HUMAN transmembrane protein 215 45 integral to membrane endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|prostate(2) 12 TCCTGGCCATCGGGCCAGCCA 0.597000 18 49 9.7654e-05 0.000106484 1 1 0 BHLHE23 128408 broad.mit.edu 37 20 61637750 61637750 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr20:61637750C>T ENST00000370346.2 - 1 637 c.329G>A c.(328-330)cGg>cAg p.R110Q NM_080606.3 NP_542173.1 Q8NDY6 BHE23_HUMAN basic helix-loop-helix family, member e23 110 Arg-rich.|Helix-loop-helix motif. transcription, DNA-dependent nucleus DNA binding NS(1) 1 CATGcgccgccgctcgcgcgc 0.756000 4 31 0 0 1 0 0 ATP6V1A 523 broad.mit.edu 37 3 113513751 113513751 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr3:113513751G>T ENST00000273398.3 + 9 1129 c.1021G>T c.(1021-1023)Ggc>Tgc p.G341C ATP6V1A_ENST00000538620.1_Missense_Mutation_p.G308C NM_001690.3 NP_001681.2 P38606 VATA_HUMAN ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A 341 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytosol|integral to plasma membrane|proton-transporting V-type ATPase, V1 domain ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 CCGTGACATGGGCTATCATGT 0.413000 34 114 3.33393e-15 4.62462e-15 1 1 0 GRIN3A 116443 broad.mit.edu 37 9 104499792 104499792 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr9:104499792C>T ENST00000361820.3 - 1 1070 c.470G>A c.(469-471)gGc>gAc p.G157D NM_133445.2 NP_597702.2 Q8TCU5 NMD3A_HUMAN glutamate receptor, ionotropic, N-methyl-D-aspartate 3A 157 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1) 80 Acute lymphoblastic leukemia(62;0.0568) Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740) ATCGCCCAGGCCTGCCTCGAT 0.587000 16 27 0 0 1 0 0 ASH1L 55870 broad.mit.edu 37 1 155317646 155317646 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:155317646C>T ENST00000368346.3 - 20 8258 c.7619G>A c.(7618-7620)cGa>cAa p.R2540Q ASH1L_ENST00000392403.3_Missense_Mutation_p.R2535Q Q9NR48 ASH1L_HUMAN ash1 (absent, small, or homeotic)-like (Drosophila) 2540 cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|Golgi apparatus|nucleus|tight junction DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4) 124 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021) ATAGGCCTTTCGTAGACGACA 0.463000 20 169 0 0 1 0 0 BLOC1S4 55330 broad.mit.edu 37 4 6718511 6718511 + Missense_Mutation SNP A A C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr4:6718511A>C ENST00000320776.3 + 1 670 c.575A>C c.(574-576)cAg>cCg p.Q192P NM_018366.2 NP_060836.1 biogenesis of lysosomal organelles complex-1, subunit 4, cappuccino TCGAGGCCACAGCAAGCCGGC 0.622000 7 28 0 0 1 0 0 EPHB6 2051 broad.mit.edu 37 7 142563378 142563378 + Silent SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr7:142563378C>T ENST00000392957.2 + 8 1882 c.1095C>T c.(1093-1095)ccC>ccT p.P365P EPHB6_ENST00000442129.1_Silent_p.P365P|EPHB6_ENST00000411471.2_Silent_p.P88P NM_004445.3 NP_004436.2 O15197 EPHB6_HUMAN EPH receptor B6 365 Cys-rich. extracellular region|integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 87 Melanoma(164;0.059) CAGAGGCCCCCTGCACTGGTG 0.647000 13 18 0 0 1 0 0 TTLL8 164714 broad.mit.edu 37 22 50470331 50470331 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr22:50470331G>T ENST00000266182.6 - 11 1490 c.1491C>A c.(1489-1491)caC>caA p.H497Q TTLL8_ENST00000440475.1_Missense_Mutation_p.H477Q tubulin tyrosine ligase-like family, member 8 NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4) 12 all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162) READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226) GAGGCTCCACGTGGTCCTGGG 0.632000 22 26 2.27731e-05 2.51998e-05 1 1 0 OR51T1 401665 broad.mit.edu 37 11 4903675 4903675 + Nonsense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:4903675C>A ENST00000380378.1 + 1 627 c.627C>A c.(625-627)taC>taA p.Y209* MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron|OR51T1_ENST00000322049.1_Nonsense_Mutation_p.Y182* NM_001004759.1 NP_001004759.1 Q8NGJ9 O51T1_HUMAN olfactory receptor, family 51, subfamily T, member 1 182 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 34 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19) CATTTTGCTACCACCCAGAAG 0.433000 39 96 8.69298e-16 1.21865e-15 1 1 0 L1CAM 3897 broad.mit.edu 37 X 153141222 153141222 + Missense_Mutation SNP C C G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chrX:153141222C>G ENST00000370060.1 - 2 259 c.70G>C c.(70-72)Gag>Cag p.E24Q L1CAM_ENST00000543994.1_Missense_Mutation_p.E24Q|L1CAM_ENST00000370055.1_Missense_Mutation_p.E24Q|L1CAM_ENST00000361699.4_Missense_Mutation_p.E24Q|L1CAM_ENST00000370057.3_Missense_Mutation_p.E24Q|L1CAM_ENST00000538883.1_Missense_Mutation_p.E24Q|L1CAM_ENST00000361981.3_Missense_Mutation_p.E24Q NM_001278116.1 NP_001265045.1 P32004 L1CAM_HUMAN L1 cell adhesion molecule 24 axon guidance|blood coagulation|cell death|leukocyte migration integral to membrane NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 81 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) TCACATTCCTCGGGGATCTGG 0.632000 11 25 0 0 1 0 0 OR1C1 26188 broad.mit.edu 37 1 247920907 247920907 + Missense_Mutation SNP G G C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:247920907G>C ENST00000408896.2 - 1 1075 c.802C>G c.(802-804)Cct>Gct p.P268A NM_012353.2 NP_036485.2 Q15619 OR1C1_HUMAN olfactory receptor, family 1, subfamily C, member 1 268 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1) 46 all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858) all_cancers(173;0.0247) OV - Ovarian serous cystadenocarcinoma(106;0.0168) TCGCTCTCAGGCATATGGGGG 0.517000 24 92 0 0 1 0 0 PDGFRB 5159 broad.mit.edu 37 5 149514548 149514548 + Silent SNP G G C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr5:149514548G>C ENST00000261799.4 - 4 865 c.396C>G c.(394-396)gcC>gcG p.A132A NM_002609.3 NP_002600.1 P09619 PGFRB_HUMAN platelet-derived growth factor receptor, beta polypeptide 132 Ig-like C2-type 2. aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1) 75 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268) ATAGTTCCTCGGCATCATTAG 0.527000 T """ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP""" """MPD, AML, CMML, CML""" 20 29 0 0 1 0 0 APBA1 320 broad.mit.edu 37 9 72067157 72067157 + Missense_Mutation SNP T T C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr9:72067157T>C ENST00000265381.4 - 9 2071 c.1849A>G c.(1849-1851)Agg>Ggg p.R617G NM_001163.3 NP_001154.2 Q02410 APBA1_HUMAN amyloid beta (A4) precursor protein-binding, family A, member 1 617 PID. axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission synaptic vesicle endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3) 37 CCATTGGCCCTGAGGAATTCC 0.522000 10 84 0 0 1 0 0 PHKA1 5255 broad.mit.edu 37 X 71864268 71864268 + Missense_Mutation SNP A A G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chrX:71864268A>G ENST00000373545.3 - 14 1841 c.1403T>C c.(1402-1404)gTa>gCa p.V468A PHKA1_ENST00000339490.3_Missense_Mutation_p.V468A|PHKA1_ENST00000541944.1_Missense_Mutation_p.V468A|PHKA1_ENST00000373539.3_Missense_Mutation_p.V468A|PHKA1_ENST00000373542.4_Missense_Mutation_p.V468A P46020 KPB1_HUMAN phosphorylase kinase, alpha 1 (muscle) 468 glucose metabolic process|glycogen catabolic process cytosol|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 Renal(35;0.156) GATGGGGTATACCTCAGCAAT 0.423000 6 27 0 0 1 0 0 KCNE1L 23630 broad.mit.edu 37 X 108868031 108868031 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chrX:108868031C>A ENST00000372101.2 - 1 362 c.219G>T c.(217-219)ttG>ttT p.L73F RP1-136J15.3_ENST00000439581.1_RNA NM_012282.2 NP_036414.1 Q9UJ90 KCE1L_HUMAN KCNE1-like 73 regulation of heart contraction voltage-gated potassium channel complex endometrium(1)|kidney(1)|large_intestine(2)|lung(2) 6 GGCCTCCGGCCAAGCAGGCGT 0.662000 16 51 2.35188e-11 3.04225e-11 1 1 0 JPH4 84502 broad.mit.edu 37 14 24040607 24040607 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr14:24040607C>T ENST00000397118.3 - 6 2235 c.1333G>A c.(1333-1335)Ggg>Agg p.G445R JPH4_ENST00000356300.4_Missense_Mutation_p.G445R|JPH4_ENST00000544177.1_Missense_Mutation_p.G110R NM_032452.2 NP_115828.2 Q96JJ6 JPH4_HUMAN junctophilin 4 445 calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional sarcoplasmic reticulum membrane endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 all_cancers(95;0.000251) GBM - Glioblastoma multiforme(265;0.00654) TCATATACCCCAGGGCTGTCC 0.647000 25 35 0 0 1 0 0 LIPG 9388 broad.mit.edu 37 18 47107814 47107814 + Nonsense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr18:47107814G>T ENST00000261292.4 + 6 1101 c.823G>T c.(823-825)Gag>Tag p.E275* LIPG_ENST00000580036.1_Nonsense_Mutation_p.E275*|LIPG_ENST00000427224.2_Nonsense_Mutation_p.E201*|LIPG_ENST00000577628.1_Nonsense_Mutation_p.E311* NM_006033.2 NP_006024.1 Q9Y5X9 LIPE_HUMAN lipase, endothelial 275 cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport extracellular space heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2) 18 ATGTGAGCATGAGCGAGCCGT 0.468000 18 100 3.32936e-07 3.88945e-07 1 1 0 USP6 9098 broad.mit.edu 37 17 5051863 5051863 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr17:5051863C>T ENST00000574788.1 + 30 4674 c.2444C>T c.(2443-2445)tCa>tTa p.S815L USP6_ENST00000304328.5_Missense_Mutation_p.S498L|USP6_ENST00000250066.6_Missense_Mutation_p.S815L|USP6_ENST00000332776.4_Missense_Mutation_p.H778Y P35125 UBP6_HUMAN ubiquitin specific peptidase 6 (Tre-2 oncogene) 815 protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process lysosome|plasma membrane|recycling endosome calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 34 TTCTCCTCTTCACCATCTACA 0.413000 T """COL1A1, CDH11, ZNF9, OMD""" aneurysmal bone cysts 24 36 0 0 1 0 0 AGL 178 broad.mit.edu 37 1 100340950 100340950 + Nonsense_Mutation SNP C C T rs113994128 TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:100340950C>T ENST00000294724.4 + 10 1700 c.1222C>T c.(1222-1224)Cga>Tga p.R408* AGL_ENST00000477753.1_3'UTR|AGL_ENST00000370165.3_Nonsense_Mutation_p.R408*|AGL_ENST00000361522.4_Nonsense_Mutation_p.R391*|AGL_ENST00000370163.3_Nonsense_Mutation_p.R408*|AGL_ENST00000370161.2_Nonsense_Mutation_p.R392*|AGL_ENST00000361302.3_Nonsense_Mutation_p.R392*|AGL_ENST00000361915.3_Nonsense_Mutation_p.R408* NM_000028.2 NP_000019.2 P35573 GDE_HUMAN amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase 408 glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol|isoamylase complex|nucleus 4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1) 69 all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131) Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237) GTTTTATGAACGACTGGCTGG 0.358000 13 33 0 0 1 0 0 CHERP 10523 broad.mit.edu 37 19 16643458 16643458 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:16643458C>T ENST00000546361.2 - 5 776 c.625G>A c.(625-627)Gag>Aag p.E209K CTD-3222D19.2_ENST00000409035.1_Intron|CHERP_ENST00000198939.6_Missense_Mutation_p.E209K NM_006387.5 NP_006378.3 Q8IWX8 CHERP_HUMAN calcium homeostasis endoplasmic reticulum protein 209 CID. cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing endoplasmic reticulum|perinuclear region of cytoplasm RNA binding endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3) 24 AGCCGCAGCTCGAAGTGTGCC 0.647000 8 47 0 0 1 0 0 RGL4 266747 broad.mit.edu 37 22 24034690 24034690 + Silent SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr22:24034690G>A ENST00000290691.5 + 2 1518 c.348G>A c.(346-348)ccG>ccA p.P116P RGL4_ENST00000401461.1_5'UTR|GUSBP11_ENST00000417194.1_RNA NM_153615.1 NP_705843.1 Q8IZJ4 RGDSR_HUMAN ral guanine nucleotide dissociation stimulator-like 4 116 Pro-rich. small GTPase mediated signal transduction cytoplasmic membrane-bounded vesicle guanyl-nucleotide exchange factor activity endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(3) 15 TGGTGCTTCCGGAGCCCAACG 0.572000 5 64 0 0 1 0 0 LRRC37A2 474170 broad.mit.edu 37 17 44632733 44632733 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr17:44632733C>T ENST00000576629.1 + 14 5492 c.4997C>T c.(4996-4998)gCa>gTa p.A1666V ARL17A_ENST00000329240.4_Intron|LRRC37A2_ENST00000333412.3_Missense_Mutation_p.A1666V|ARL17A_ENST00000337845.7_Intron|ARL17A_ENST00000573185.1_Intron|ARL17A_ENST00000445552.2_Intron|ARL17A_ENST00000570550.1_Intron|ARL17A_ENST00000336125.5_3'UTR A6NM11 L37A2_HUMAN leucine rich repeat containing 37, member A2 1666 integral to membrane endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|pancreas(4)|prostate(2) 15 Melanoma(429;0.211) BRCA - Breast invasive adenocarcinoma(366;0.232) AATAATCATGCATGGAAGCTG 0.448000 9 144 0 0 1 0 0 KRT13 3860 broad.mit.edu 37 17 39658986 39658986 + Missense_Mutation SNP G G T rs146126348 TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr17:39658986G>T ENST00000246635.3 - 5 1022 c.976C>A c.(976-978)Cgc>Agc p.R326S KRT13_ENST00000587544.1_Missense_Mutation_p.R326S|KRT13_ENST00000336861.3_Missense_Mutation_p.R326S NM_153490.2 NP_705694.2 P13646 K1C13_HUMAN keratin 13 326 Coil 2.|Rod. epidermis development intermediate filament structural molecule activity NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1) 33 Breast(137;0.000286) TGGAGCGTGCGCCTGAGCTCC 0.577000 85 158 8.14536e-31 1.27941e-30 1 1 0 MED27 9442 broad.mit.edu 37 9 134738474 134738474 + Silent SNP C C T rs144516383 TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr9:134738474C>T ENST00000292035.5 - 7 840 c.777G>A c.(775-777)ccG>ccA p.P259P MED27_ENST00000357028.2_Silent_p.P185P|MED27_ENST00000372184.3_Silent_p.P223P NM_004269.3 NP_004260.2 Q6P2C8 MED27_HUMAN mediator complex subunit 27 259 regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter cytoplasm|nucleolus|transcription factor complex protein binding|transcription coactivator activity breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(5)|skin(1)|urinary_tract(1) 18 Myeloproliferative disorder(178;0.206) OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000193) CCACGACATCCGGCATCTGGG 0.552000 5 41 0 0 1 0 0 FASN 2194 broad.mit.edu 37 17 80050629 80050629 + Missense_Mutation SNP C C G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr17:80050629C>G ENST00000306749.2 - 7 1056 c.838G>C c.(838-840)Gcc>Ccc p.A280P NM_004104.4 NP_004095.4 P49327 FAS_HUMAN fatty acid synthase 280 Beta-ketoacyl synthase (By similarity). energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process cytosol|Golgi apparatus|melanosome|plasma membrane 3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1) 34 all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246) OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237) Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339) GCCACTCCGGCCGACTGGTAC 0.667000 3 14 0 0 1 0 0 USP4 7375 broad.mit.edu 37 3 49338076 49338076 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr3:49338076C>A ENST00000351842.4 - 10 1203 c.1195G>T c.(1195-1197)Gtg>Ttg p.V399L USP4_ENST00000488520.1_5'UTR|USP4_ENST00000265560.4_Missense_Mutation_p.V446L NM_199443.2 NP_955475.1 Q13107 UBP4_HUMAN ubiquitin specific peptidase 4 (proto-oncogene) 446 negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process lysosome|nucleus adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121) OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05) TCCACAATCACAGAATCATTC 0.473000 10 29 1.58986e-06 1.82314e-06 1 1 0 DZIP3 9666 broad.mit.edu 37 3 108396394 108396394 + Missense_Mutation SNP T T A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr3:108396394T>A ENST00000361582.3 + 26 3062 c.2832T>A c.(2830-2832)agT>agA p.S944R DZIP3_ENST00000463306.1_Missense_Mutation_p.S944R NM_014648.3 NP_055463.1 Q86Y13 DZIP3_HUMAN DAZ interacting zinc finger protein 3 944 protein polyubiquitination cytoplasm polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1) 45 TTGCCTTGAGTACCTTGCCTC 0.378000 62 173 0 0 1 0 0 GGT7 2686 broad.mit.edu 37 20 33437796 33437796 + Missense_Mutation SNP G G C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr20:33437796G>C ENST00000336431.5 - 14 1837 c.1793C>G c.(1792-1794)cCg>cGg p.P598R GGT7_ENST00000469018.1_5'UTR NM_178026.2 NP_821158.2 Q9UJ14 GGT7_HUMAN gamma-glutamyltransferase 7 598 glutathione biosynthetic process integral to membrane acyltransferase activity|gamma-glutamyltransferase activity NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2) 20 CTGCAGGTCCGGGTGTAGGCG 0.607000 17 47 0 0 1 0 0 AOX1 316 broad.mit.edu 37 2 201501757 201501757 + Missense_Mutation SNP G G C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr2:201501757G>C ENST00000374700.2 + 22 2711 c.2470G>C c.(2470-2472)Gcc>Ccc p.A824P AOX1_ENST00000485106.1_3'UTR NM_001159.3 NP_001150.3 Q06278 ADO_HUMAN aldehyde oxidase 1 824 inflammatory response|reactive oxygen species metabolic process cytoplasm 2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 81 Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909) CACTGCATTTGCCGCAAACAA 0.458000 16 36 0 0 1 0 0 TIGD3 220359 broad.mit.edu 37 11 65124546 65124546 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:65124546G>T ENST00000309880.5 + 2 1474 c.1267G>T c.(1267-1269)Ggt>Tgt p.G423C NM_145719.2 NP_663771.1 Q6B0B8 TIGD3_HUMAN tigger transposable element derived 3 423 regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus DNA binding endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2) 17 GGACAGAGAGGGTGCCTTTGA 0.577000 68 95 1.33661e-31 2.10683e-31 1 1 0 TRIM50 135892 broad.mit.edu 37 7 72738530 72738530 + Missense_Mutation SNP G G C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr7:72738530G>C ENST00000333149.2 - 2 456 c.256C>G c.(256-258)Ccc>Gcc p.P86A TRIM50_ENST00000453152.1_Missense_Mutation_p.P86A|TRIM50_ENST00000493498.1_5'UTR NM_178125.2 NP_835226.1 Q86XT4 TRI50_HUMAN tripartite motif containing 50 86 cytoplasm|intracellular membrane-bounded organelle ligase activity|zinc ion binding endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2) 20 CAGACCTTGGGCTCCGGGTCC 0.682000 OREG0018105 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 103 0 0 1 0 0 COLEC12 81035 broad.mit.edu 37 18 331745 331745 + Silent SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr18:331745C>T ENST00000400256.3 - 8 2193 c.1986G>A c.(1984-1986)gaG>gaA p.E662E NM_130386.2 NP_569057.1 Q5KU26 COL12_HUMAN collectin sub-family member 12 662 C-type lectin. carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization collagen|integral to membrane galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 46 all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426) TCCAGTGGCTCTCTCTCCCTA 0.453000 32 22 0 0 1 0 0 RPS6KA6 27330 broad.mit.edu 37 X 83361409 83361409 + Nonsense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chrX:83361409G>T ENST00000262752.2 - 15 1336 c.1329C>A c.(1327-1329)tgC>tgA p.C443* RPS6KA6_ENST00000495332.1_5'UTR|RPS6KA6_ENST00000543399.1_Nonsense_Mutation_p.C443* NM_014496.4 NP_055311.1 Q9UK32 KS6A6_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 6 443 Protein kinase 2. axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission cytosol|nucleoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 46 TTGCATGTATGCATCGCTTGC 0.353000 6 24 0.00116845 0.00122986 1 1 0 TTLL7 79739 broad.mit.edu 37 1 84372018 84372018 + Silent SNP T T A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:84372018T>A ENST00000260505.8 - 17 2498 c.2121A>T c.(2119-2121)atA>atT p.I707I TTLL7_ENST00000477524.1_5'UTR NM_024686.4 NP_078962.4 Q6ZT98 TTLL7_HUMAN tubulin tyrosine ligase-like family, member 7 707 cell differentiation|nervous system development|protein modification process cilium|dendrite|microtubule basal body|perikaryon tubulin-tyrosine ligase activity kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16) TCACATCTTCTATCAGAAGTT 0.348000 29 79 0 0 1 0 0 NLRP5 126206 broad.mit.edu 37 19 56544040 56544040 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:56544040C>A ENST00000390649.3 + 8 2340 c.2340C>A c.(2338-2340)caC>caA p.H780Q NM_153447.4 NP_703148.4 P59047 NALP5_HUMAN NLR family, pyrin domain containing 5 780 mitochondrion|nucleolus ATP binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2) 25 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) TTGGCACCCACCCACACCTGC 0.577000 12 58 0.000978159 0.00103296 1 1 0 TRPV2 51393 broad.mit.edu 37 17 16326145 16326145 + Silent SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr17:16326145G>A ENST00000338560.7 + 4 966 c.567G>A c.(565-567)gtG>gtA p.V189V TRPV2_ENST00000577397.1_5'UTR NM_016113.4 NP_057197.2 Q9Y5S1 TRPV2_HUMAN transient receptor potential cation channel, subfamily V, member 2 189 Required for interaction with SLC50A1 (By similarity). sensory perception integral to plasma membrane|melanosome calcium channel activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3) 28 UCEC - Uterine corpus endometrioid carcinoma (92;0.0837) GGGCCAATGTGCATGCCCGGG 0.547000 3 6 0 0 1 0 0 TLR3 7098 broad.mit.edu 37 4 187004485 187004485 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr4:187004485G>A ENST00000296795.2 + 4 1749 c.1645G>A c.(1645-1647)Gca>Aca p.A549T TLR3_ENST00000504367.1_Missense_Mutation_p.A272T NM_003265.2 NP_003256.1 O15455 TLR3_HUMAN toll-like receptor 3 549 activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane double-stranded RNA binding|transmembrane receptor activity breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 29 all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16) CTGGAAACACGCAAACCCTGG 0.453000 34 72 0 0 1 0 0 DOCK7 85440 broad.mit.edu 37 1 63018570 63018570 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:63018570G>A ENST00000251157.5 - 22 2632 c.2599C>T c.(2599-2601)Cct>Tct p.P867S DOCK7_ENST00000340370.5_Missense_Mutation_p.P867S NM_001271999.1 NP_001258928.1 Q96N67 DOCK7_HUMAN dedicator of cytokinesis 7 867 activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation axon|basal part of cell|growth cone GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 92 AAACCCCCAGGACCTAGAGTT 0.388000 11 32 0 0 1 0 0 NAGPA 51172 broad.mit.edu 37 16 5075585 5075585 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr16:5075585C>T ENST00000312251.3 - 10 1461 c.1442G>A c.(1441-1443)cGc>cAc p.R481H NAGPA_ENST00000381955.3_Missense_Mutation_p.R447H|RP11-165E7.1_ENST00000588778.1_RNA NM_016256.3 NP_057340.2 Q9UK23 NAGPA_HUMAN N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase 481 carbohydrate metabolic process|lysosome organization|protein modification process|protein targeting to lysosome Golgi cisterna membrane|integral to membrane N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity endometrium(4)|large_intestine(4)|lung(3)|urinary_tract(1) 12 N-Acetyl-D-glucosamine(DB00141) CCCATGCAGGCGCCGGTTCCT 0.647000 10 113 0 0 1 0 0 DIO2 1734 broad.mit.edu 37 14 80669291 80669291 + Missense_Mutation SNP T T A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr14:80669291T>A ENST00000557010.1 - 4 948 c.563A>T c.(562-564)cAg>cTg p.Q188L DIO2_ENST00000557125.1_3'UTR|DIO2_ENST00000438257.4_Missense_Mutation_p.Q188L|DIO2_ENST00000555750.1_Missense_Mutation_p.Q224L|DIO2_ENST00000422005.3_3'UTR NM_000793.5|NM_001242502.1|NM_001242503.1 NP_000784.2|NP_001229431.1|NP_001229432.1 Q92813 IOD2_HUMAN deiodinase, iodothyronine, type II 188 hormone biosynthetic process|selenocysteine incorporation|thyroid hormone generation integral to membrane|plasma membrane thyroxine 5'-deiodinase activity|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(14)|skin(1)|stomach(1) 25 BRCA - Breast invasive adenocarcinoma(234;0.0281) TCGATCTTCCTGGTTCTGGTG 0.552000 OREG0022848 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 33 47 0 0 1 0 0 DDHD2 23259 broad.mit.edu 37 8 38107282 38107282 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr8:38107282G>T ENST00000397166.2 + 11 1830 c.1305G>T c.(1303-1305)aaG>aaT p.K435N DDHD2_ENST00000520272.2_Missense_Mutation_p.K435N|DDHD2_ENST00000517385.1_Missense_Mutation_p.K54N NM_015214.2 NP_056029.2 O94830 DDHD2_HUMAN DDHD domain containing 2 435 SAM. lipid catabolic process centrosome hydrolase activity|metal ion binding endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)|urinary_tract(2) 28 Colorectal(12;0.000442) all_lung(54;0.0657)|Lung NSC(58;0.175) BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977) GACCAAGAAAGAAGATATTAA 0.348000 12 21 4.3838e-07 5.10798e-07 1 1 0 POU4F3 5459 broad.mit.edu 37 5 145719248 145719248 + Silent SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr5:145719248G>A ENST00000230732.4 + 2 347 c.258G>A c.(256-258)gtG>gtA p.V86V CTC-359M8.1_ENST00000515598.1_RNA NM_002700.2 NP_002691.1 Q15319 PO4F3_HUMAN POU class 4 homeobox 3 86 sensory perception of sound|visual perception nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 17 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TGAGCAGCGTGCCCTGCACGT 0.662000 23 69 0 0 1 0 0 SH3BP4 23677 broad.mit.edu 37 2 235950663 235950663 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr2:235950663G>T ENST00000409212.1 + 4 1757 c.1250G>T c.(1249-1251)aGg>aTg p.R417M SH3BP4_ENST00000392011.2_Missense_Mutation_p.R417M|SH3BP4_ENST00000344528.4_Missense_Mutation_p.R417M Q9P0V3 SH3B4_HUMAN SH3-domain binding protein 4 417 endocytosis clathrin-coated vesicle|coated pit|nucleus protein binding central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2) 44 Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419) Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237) CAGTGCCTGAGGAGCGACTCG 0.532000 6 71 0.0381472 0.0387871 1 1 0 C14orf183 196913 broad.mit.edu 37 14 50550573 50550573 + Silent SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr14:50550573G>A ENST00000305273.1 - 5 770 c.771C>T c.(769-771)ggC>ggT p.G257G RP11-58E21.5_ENST00000556019.2_lincRNA NM_001014830.1 NP_001014830.1 Q8WXQ3 CN183_HUMAN chromosome 14 open reading frame 183 257 endometrium(2)|large_intestine(2)|lung(3) 7 CAGTCTCCTCGCCCACCCACT 0.672000 11 60 0 0 1 0 0 MTNR1B 4544 broad.mit.edu 37 11 92715238 92715238 + Silent SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:92715238C>A ENST00000257068.2 + 2 855 c.849C>A c.(847-849)ccC>ccA p.P283P NM_005959.3 NP_005950.1 P49286 MTR1B_HUMAN melatonin receptor 1B 283 G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission integral to plasma membrane melatonin receptor activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1) 33 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) Ramelteon(DB00980) AAATGGCTCCCCAGATCCCTG 0.498000 67 252 2.54232e-27 3.92999e-27 1 1 0 DNAH17 8632 broad.mit.edu 37 17 76525651 76525651 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr17:76525651G>A ENST00000389840.5 - 22 3534 c.3410C>T c.(3409-3411)gCa>gTa p.A1137V DNAH17_ENST00000585328.1_Missense_Mutation_p.A1134V dynein, axonemal, heavy chain 17 NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) GTCGGTGGCTGCTTGCCTCTC 0.557000 19 150 0 0 1 0 0 ARGFX 503582 broad.mit.edu 37 3 121305243 121305243 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr3:121305243C>A ENST00000334384.3 + 4 754 c.744C>A c.(742-744)caC>caA p.H248Q NM_001012659.1 NP_001012677.1 A6NJG6 ARGFX_HUMAN arginine-fifty homeobox 248 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 15 GBM - Glioblastoma multiforme(114;0.152) CTTCTTTCCACTGTCTGTATC 0.468000 33 68 4.3181e-19 6.29746e-19 1 1 0 DAPK3 1613 broad.mit.edu 37 19 3960103 3960103 + Splice_Site SNP C C G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:3960103C>G ENST00000545797.2 - 8 1026 c.e8-1 DAPK3_ENST00000301264.3_Splice_Site O43293 DAPK3_HUMAN death-associated protein kinase 3 apoptosis|chromatin modification|induction of apoptosis|intracellular protein kinase cascade cytoplasm|PML body ATP binding|leucine zipper domain binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2) 21 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18) CATTCTCCGCCTGGAAGACCC 0.617000 64 183 0 0 1 0 0 PROX1 5629 broad.mit.edu 37 1 214170682 214170682 + Missense_Mutation SNP T T A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:214170682T>A ENST00000366958.4 + 2 1412 c.804T>A c.(802-804)aaT>aaA p.N268K PROX1_ENST00000435016.1_Missense_Mutation_p.N268K|PROX1_ENST00000261454.4_Missense_Mutation_p.N268K|PROX1_ENST00000498508.2_Missense_Mutation_p.N268K NM_001270616.1 NP_001257545.1 Q92786 PROX1_HUMAN prospero homeobox 1 268 aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis cytoplasm|nucleus DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4) 47 OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219) ATTCGGAAAATGATGAAGATG 0.527000 6 72 0 0 1 0 0 ZNF816 125893 broad.mit.edu 37 19 53453535 53453535 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:53453535C>T ENST00000357666.4 - 5 1793 c.1493G>A c.(1492-1494)cGt>cAt p.R498H ZNF816_ENST00000434371.2_Intron|ZNF321P_ENST00000391777.3_Intron|ZNF816_ENST00000444460.2_Missense_Mutation_p.R498H NM_001031665.2 NP_001026835.1 Q0VGE8 ZN816_HUMAN zinc finger protein 816 498 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2) 27 TCTATGATGACGTGCAAGGTT 0.393000 10 88 0 0 1 0 0 TRPC4AP 26133 broad.mit.edu 37 20 33665865 33665865 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr20:33665865C>A ENST00000252015.2 - 2 370 c.281G>T c.(280-282)tGt>tTt p.C94F TRPC4AP_ENST00000432634.2_Missense_Mutation_p.C94F|TRPC4AP_ENST00000451813.1_Missense_Mutation_p.C94F Q8TEL6 TP4AP_HUMAN transient receptor potential cation channel, subfamily C, member 4 associated protein 94 Interaction with TNFRSF1A (By similarity). protein ubiquitination|ubiquitin-dependent protein catabolic process Cul4A-RING ubiquitin ligase complex protein binding breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1) 32 BRCA - Breast invasive adenocarcinoma(18;0.00936) GATGTTTTGACACTCAACAAA 0.488000 17 60 3.8784e-16 5.46436e-16 1 1 0 MUC16 94025 broad.mit.edu 37 19 9014572 9014572 + Silent SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:9014572C>A ENST00000397910.4 - 31 38606 c.38403G>T c.(38401-38403)ctG>ctT p.L12801L NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 12803 SEA 5. Missing (in Ref. 3; AAK74120). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TGTAGGGACCCAGCTCTTTGA 0.542000 33 137 5.34276e-22 7.99987e-22 1 1 0 SIRPB2 284759 broad.mit.edu 37 20 1460538 1460538 + Silent SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr20:1460538G>A ENST00000359801.3 - 2 294 c.258C>T c.(256-258)aaC>aaT p.N86N SIRPB2_ENST00000537284.1_Intron|SIRPB2_ENST00000381630.1_Intron|SIRPB2_ENST00000444444.1_Intron NM_001122962.1 NP_001116434.1 Q5JXA9 SIRB2_HUMAN signal-regulatory protein beta 2 86 Ig-like V-type 1. integral to membrane endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 CACGTTTAAAGTTATAAATTT 0.463000 10 88 0 0 1 0 0 RBM44 375316 broad.mit.edu 37 2 238726844 238726844 + Missense_Mutation SNP A A T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr2:238726844A>T ENST00000316997.4 + 3 1417 c.1285A>T c.(1285-1287)Acg>Tcg p.T429S RBM44_ENST00000409864.1_Missense_Mutation_p.T429S|RBM44_ENST00000444524.2_Intron NM_001080504.2 NP_001073973.2 Q6ZP01 RBM44_HUMAN RNA binding motif protein 44 428 nucleotide binding|RNA binding breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182) Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266) AGAAGATAATACGTCCCTAAA 0.373000 12 29 0 0 1 0 0 UNC5B 219699 broad.mit.edu 37 10 73046537 73046537 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr10:73046537C>A ENST00000335350.6 + 5 1060 c.644C>A c.(643-645)gCc>gAc p.A215D UNC5B_ENST00000373192.4_Missense_Mutation_p.A215D NM_170744.4 NP_734465.2 Q8IZJ1 UNC5B_HUMAN unc-5 homolog B (C. elegans) 215 Ig-like C2-type. apoptosis|axon guidance|regulation of apoptosis integral to membrane breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4) 49 ATCCGCCAGGCCCGCCTGTCG 0.597000 67 154 9.42754e-34 1.49336e-33 1 1 0 MCM3AP 8888 broad.mit.edu 37 21 47655302 47655302 + Silent SNP C C T rs141757607 byFrequency TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr21:47655302C>T ENST00000397708.1 - 29 6077 c.5823G>A c.(5821-5823)gcG>gcA p.A1941A MCM3AP_ENST00000291688.1_Silent_p.A1941A|MCM3AP-AS1_ENST00000420074.1_RNA|MCM3AP-AS1_ENST00000591223.1_RNA|MCM3AP-AS1_ENST00000444998.1_RNA|MCM3AP-AS1_ENST00000421927.1_RNA|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP_ENST00000467026.1_5'UTR|MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP-AS1_ENST00000432735.1_RNA|MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP-AS1_ENST00000588753.1_RNA O60318 MCM3A_HUMAN minichromosome maintenance complex component 3 associated protein 1941 A -> V (in dbSNP:rs17183403). DNA replication|protein import into nucleus cytosol|nucleus DNA binding|nucleotide binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 72 Breast(49;0.112) ACGTTCCTGTCGCCTCTGACA 0.488000 8 32 0 0 1 0 0 C1orf174 339448 broad.mit.edu 37 1 3807190 3807190 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:3807190G>T ENST00000361605.3 - 3 659 c.561C>A c.(559-561)gaC>gaA p.D187E C1orf174_ENST00000486765.1_5'UTR NM_207356.2 NP_997239.2 Q8IYL3 CA174_HUMAN chromosome 1 open reading frame 174 187 endometrium(1)|large_intestine(5)|lung(4)|prostate(1) 11 all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227) all_cancers(23;5.09e-25)|all_epithelial(116;9.35e-17)|all_lung(118;1.09e-06)|Lung NSC(185;0.000139)|all_neural(13;0.00287)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0219)|all_hematologic(16;0.027)|Colorectal(325;0.0276)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127) Epithelial(90;1.55e-39)|OV - Ovarian serous cystadenocarcinoma(86;5.99e-23)|GBM - Glioblastoma multiforme(42;2.22e-17)|Colorectal(212;1.08e-05)|COAD - Colon adenocarcinoma(227;5.49e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000365)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.19) GATTGCTGTCGTCATCTAGAA 0.557000 17 55 2.94398e-08 3.52555e-08 1 1 0 DGKK 139189 broad.mit.edu 37 X 50213191 50213191 + RNA SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chrX:50213191G>A ENST00000376025.2 - 0 546 Q5KSL6 DGKK_HUMAN diacylglycerol kinase, kappa activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress cytoplasm|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Ovarian(276;0.236) CAGAACTCTGGGGCCAGCTCT 0.617000 11 36 0 0 1 0 0 MEFV 4210 broad.mit.edu 37 16 3293550 3293550 + Missense_Mutation SNP G G A rs104895107 TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr16:3293550G>A ENST00000219596.1 - 10 1976 c.1937C>T c.(1936-1938)cCg>cTg p.P646L MEFV_ENST00000339854.4_Missense_Mutation_p.P466L|MEFV_ENST00000536379.1_Missense_Mutation_p.P435L|MEFV_ENST00000541159.1_3'UTR NM_000243.2 NP_000234.1 O15553 MEFV_HUMAN Mediterranean fever 646 B30.2/SPRY. P -> L (in arFMF). inflammatory response cytoplasm|microtubule|microtubule associated complex|nucleus actin binding|zinc ion binding NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6) 50 Colchicine(DB01394) GAGGAAACTCGGAGAGCCCAG 0.522000 9 275 0 0 1 0 0 FCRL1 115350 broad.mit.edu 37 1 157771735 157771735 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:157771735G>T ENST00000358292.3 - 5 907 c.856C>A c.(856-858)Cgc>Agc p.R286S FCRL1_ENST00000489998.1_5'UTR|FCRL1_ENST00000368176.3_Missense_Mutation_p.R286S|FCRL1_ENST00000491942.1_Missense_Mutation_p.R286S NM_001159397.1 NP_001152869.1 Q96LA6 FCRL1_HUMAN Fc receptor-like 1 286 Ig-like C2-type 3. integral to membrane|plasma membrane receptor activity breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6) 42 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) GCCTCACTGCGCTGGGCCCCC 0.562000 76 51 7.09011e-46 1.14658e-45 1 1 0 IGHV1-58 28464 broad.mit.edu 37 14 107078537 107078537 + RNA SNP G G C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr14:107078537G>C ENST00000390628.2 - 0 247 CACTCAAGGCGTTGTCCACGA 0.527000 21 95 0 0 1 0 0 PAPD7 11044 broad.mit.edu 37 5 6746473 6746473 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr5:6746473G>T ENST00000230859.6 + 7 771 c.642G>T c.(640-642)gaG>gaT p.E214D NM_001171805.1|NM_001171806.1|NM_006999.4 NP_001165276.1|NP_001165277.1|NP_008930.1 Q5XG87 PAPD7_HUMAN PAP associated domain containing 7 214 PAP-associated. cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion nucleus DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 CCAAAGAGGAGATCATGAAAG 0.473000 67 293 2.64105e-45 4.26485e-45 1 1 0 CRTAM 56253 broad.mit.edu 37 11 122720920 122720920 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:122720920C>A ENST00000227348.4 + 2 238 c.191C>A c.(190-192)cCt>cAt p.P64H NM_019604.2 NP_062550.2 O95727 CRTAM_HUMAN cytotoxic and regulatory T cell molecule 64 Ig-like V-type. cell recognition|detection of tumor cell|positive regulation of cytokine secretion|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target integral to membrane|plasma membrane receptor binding breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|prostate(1) 19 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308) AATGAGTATCCTGGTAAGTGA 0.488000 18 73 2.4624e-09 3.02639e-09 1 1 0 BRE 9577 broad.mit.edu 37 2 28248183 28248183 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr2:28248183C>T ENST00000344773.2 + 5 529 c.391C>T c.(391-393)Cgc>Tgc p.R131C BRE_ENST00000379624.1_Missense_Mutation_p.R131C|BRE_ENST00000379632.2_Missense_Mutation_p.R131C|BRE_ENST00000342045.2_Missense_Mutation_p.R131C|BRE_ENST00000361704.2_Missense_Mutation_p.R131C|BRE_ENST00000603461.1_3'UTR NM_004899.4 NP_004890.2 Q9NXR7 BRE_HUMAN brain and reproductive organ-expressed (TNFRSF1A modulator) 131 UEV-like 1. apoptosis|chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of anti-apoptosis|positive regulation of DNA repair|response to ionizing radiation|signal transduction BRCA1-A complex|BRISC complex|cytoplasm|nuclear ubiquitin ligase complex peroxisome targeting sequence binding|polyubiquitin binding|tumor necrosis factor receptor binding NS(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(2) 23 Acute lymphoblastic leukemia(172;0.155) CCAATGTAGCCGCCTCCGGGA 0.443000 25 50 0 0 1 0 0 CRMP1 1400 broad.mit.edu 37 4 5827333 5827333 + Missense_Mutation SNP C C G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr4:5827333C>G ENST00000324989.7 - 13 1945 c.1857G>C c.(1855-1857)gaG>gaC p.E619D CRMP1_ENST00000397890.2_Missense_Mutation_p.E505D|CRMP1_ENST00000511535.1_5'UTR|CRMP1_ENST00000512574.1_Missense_Mutation_p.E503D|EVC_ENST00000382674.2_Intron NM_001014809.1 NP_001014809.1 Q14194 DPYL1_HUMAN collapsin response mediator protein 1 505 axon guidance|pyrimidine base catabolic process cytosol|microtubule organizing center|spindle dihydropyrimidinase activity|protein binding NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 36 Colorectal(103;0.0721) TAGCTGGTACCTCGTACACAG 0.512000 21 36 0 0 1 0 0 PALB2 79728 broad.mit.edu 37 16 23635337 23635337 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr16:23635337C>T ENST00000261584.4 - 8 2979 c.2827G>A c.(2827-2829)Gag>Aag p.E943K CTD-2196E14.3_ENST00000561764.1_RNA NM_024675.3 NP_078951.2 Q86YC2 PALB2_HUMAN partner and localizer of BRCA2 943 Interaction with RAD51 and BRCA2. double-strand break repair via homologous recombination nucleoplasm DNA binding|protein binding breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3) 55 GBM - Glioblastoma multiforme(48;0.0167) TACCTGATCTCTCTGATTTCC 0.393000 """F, N, Mis""" """Wilms tumor, medulloblastoma, AML ,breast""" Involved in tolerance or repair of DNA crosslinks 7 38 0 0 1 0 0 NCAPH 23397 broad.mit.edu 37 2 97008912 97008912 + Silent SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr2:97008912G>A ENST00000455200.1 + 5 727 c.432G>A c.(430-432)gcG>gcA p.A144A NCAPH_ENST00000240423.4_Silent_p.A155A|NCAPH_ENST00000427946.1_Silent_p.A19A Q15003 CND2_HUMAN non-SMC condensin I complex, subunit H 155 cell division|mitotic chromosome condensation condensin complex|cytoplasm|microtubule cytoskeleton|nucleus haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 Ovarian(717;0.0221) AGGTGGCTGCGGGTACTCTGG 0.483000 16 50 0 0 1 0 0 ACSM4 341392 broad.mit.edu 37 12 7476111 7476111 + Silent SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr12:7476111C>A ENST00000399422.4 + 9 1311 c.1263C>A c.(1261-1263)ctC>ctA p.L421L NM_001080454.1 NP_001073923.1 P0C7M7 ACSM4_HUMAN acyl-CoA synthetase medium-chain family member 4 421 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding endometrium(6)|kidney(1)|lung(14) 21 AAATTGCCCTCAGACTCAAAC 0.373000 19 32 2.4624e-09 3.02639e-09 1 1 0 DET1 55070 broad.mit.edu 37 15 89056257 89056257 + Silent SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr15:89056257C>T ENST00000564406.1 - 6 1771 c.1611G>A c.(1609-1611)gaG>gaA p.E537E DET1_ENST00000444300.1_Silent_p.E537E|DET1_ENST00000268148.8_Silent_p.E526E NM_017996.3 NP_060466.2 Q7L5Y6 DET1_HUMAN de-etiolated homolog 1 (Arabidopsis) 526 nucleus endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Lung NSC(78;0.105)|all_lung(78;0.182) BRCA - Breast invasive adenocarcinoma(143;0.188) TAGCGAAAGGCTCAAAAGGGT 0.527000 16 37 0 0 1 0 0 DENND5A 23258 broad.mit.edu 37 11 9165709 9165709 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:9165709G>A ENST00000328194.3 - 19 3559 c.3239C>T c.(3238-3240)cCg>cTg p.P1080L DENND5A_ENST00000530044.1_Missense_Mutation_p.P1080L|DENND5A_ENST00000527700.1_Missense_Mutation_p.P423L NM_001243254.1|NM_015213.3 NP_001230183.1|NP_056028.2 Q6IQ26 DEN5A_HUMAN DENN/MADD domain containing 5A 1080 breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 CTGCAGCGGCGGGGTCCGGCA 0.607000 61 61 0 0 1 0 0 FBLN7 129804 broad.mit.edu 37 2 112896309 112896309 + Splice_Site SNP T T C rs71988542 TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr2:112896309T>C ENST00000331203.2 + 1 346 c.e1+2 FBLN7_ENST00000409667.3_Splice_Site|FBLN7_ENST00000409903.1_Splice_Site|FBLN7_ENST00000409450.3_Splice_Site NM_001128165.1|NM_153214.2 NP_001121637.1|NP_694946.2 Q53RD9 FBLN7_HUMAN fibulin 7 cell adhesion proteinaceous extracellular matrix calcium ion binding|heparin binding central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 17 GCTTCCCAGGTCAGTGtccct 0.701000 7 23 0 0 1 0 0 NDC1 55706 broad.mit.edu 37 1 54262697 54262697 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:54262697C>A ENST00000371429.3 - 12 1941 c.1343G>T c.(1342-1344)gGg>gTg p.G448V NDC1_ENST00000234725.8_Missense_Mutation_p.G333V|NDC1_ENST00000537333.1_Missense_Mutation_p.G113V|NDC1_ENST00000540001.1_Missense_Mutation_p.G448V NM_001168551.1|NM_018087.4 NP_001162023.1|NP_060557.3 NDC1 transmembrane nucleoporin AAATGGGGTCCCAAATGGGCT 0.448000 25 53 5.35356e-11 6.83829e-11 1 1 0 FCN1 2219 broad.mit.edu 37 9 137804347 137804347 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr9:137804347C>A ENST00000371806.3 - 7 674 c.583G>T c.(583-585)Gcc>Tcc p.A195S NM_002003.3 NP_001994.2 O00602 FCN1_HUMAN ficolin (collagen/fibrinogen domain containing) 1 195 Fibrinogen C-terminal. opsonization|signal transduction collagen|extracellular space antigen binding|calcium ion binding|receptor binding|sugar binding endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 37 Myeloproliferative disorder(178;0.0333) OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07) GCAGTCAGGGCGTGGATGTTG 0.637000 13 39 2.27111e-07 2.67267e-07 1 1 0 MYO16 23026 broad.mit.edu 37 13 109793318 109793318 + Silent SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr13:109793318C>T ENST00000356711.2 + 32 4818 c.4692C>T c.(4690-4692)tcC>tcT p.S1564S MYO16_ENST00000357550.2_Silent_p.S1564S NM_015011.1 NP_055826.1 Q9Y6X6 MYO16_HUMAN myosin XVI 1564 Pro-rich. cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane actin filament binding|ATP binding|motor activity NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 121 all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104) BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201) TCAACGGGTCCGGCCGAGCCT 0.801000 6 3 0 0 1 0 0 TDRD5 163589 broad.mit.edu 37 1 179659964 179659964 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:179659964G>T ENST00000444136.1 + 18 3244 c.2994G>T c.(2992-2994)caG>caT p.Q998H TDRD5_ENST00000294848.8_Missense_Mutation_p.Q944H|TDRD5_ENST00000367614.1_Missense_Mutation_p.Q944H NM_001199085.1|NM_001199089.1 NP_001186014.1|NP_001186018.1 Q8NAT2 TDRD5_HUMAN tudor domain containing 5 944 DNA methylation involved in gamete generation|P granule organization|spermatid development chromatoid body|pi-body nucleic acid binding NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2) 77 AGATTTCTCAGAAGCTCTACA 0.468000 16 48 0.00074312 0.000785124 1 1 0 GRM6 2916 broad.mit.edu 37 5 178418432 178418432 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr5:178418432C>A ENST00000231188.5 - 3 1028 c.850G>T c.(850-852)Gac>Tac p.D284Y GRM6_ENST00000517717.1_Missense_Mutation_p.D284Y NM_000843.3 NP_000834.2 O15303 GRM6_HUMAN glutamate receptor, metabotropic 6 284 detection of visible light|visual perception integral to plasma membrane NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1) 55 all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.245) CACCTGATGTCATCCTCATTG 0.597000 53 71 3.39706e-21 5.06285e-21 1 1 0 DNAH11 8701 broad.mit.edu 37 7 21932145 21932145 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr7:21932145C>T ENST00000328843.6 + 78 12662 c.12631C>T c.(12631-12633)Ccg>Tcg p.P4211S DNAH11_ENST00000409508.3_Missense_Mutation_p.P4204S Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 4211 microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 TCCAGAAAGCCCGGCACTGTA 0.507000 Kartagener syndrome 62 60 0 0 1 0 0 THOC2 57187 broad.mit.edu 37 X 122757067 122757067 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chrX:122757067G>T ENST00000245838.8 - 29 3602 c.3571C>A c.(3571-3573)Ccc>Acc p.P1191T THOC2_ENST00000491737.1_Missense_Mutation_p.P1076T|THOC2_ENST00000355725.4_Missense_Mutation_p.P1191T NM_001081550.1 NP_001075019.1 Q8NI27 THOC2_HUMAN THO complex 2 1191 intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing THO complex part of transcription export complex protein binding|RNA binding breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3) 63 CTCGGAGGGGGGTCTTTGTGA 0.433000 30 122 1.30897e-18 1.89543e-18 1 1 0 FAM13C 220965 broad.mit.edu 37 10 61062615 61062615 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr10:61062615C>A ENST00000373867.3 - 6 669 c.204G>T c.(202-204)caG>caT p.Q68H FAM13C_ENST00000510215.2_5'UTR|FAM13C_ENST00000442566.3_Missense_Mutation_p.Q151H|FAM13C_ENST00000373868.2_Missense_Mutation_p.Q151H|FAM13C_ENST00000468840.2_Missense_Mutation_p.Q68H|FAM13C_ENST00000435852.2_Missense_Mutation_p.Q151H|FAM13C_ENST00000422313.2_Missense_Mutation_p.Q151H|FAM13C_ENST00000277705.6_Missense_Mutation_p.Q151H|FAM13C_ENST00000419214.2_Missense_Mutation_p.Q151H NM_001166698.1 NP_001160170.1 Q8NE31 FA13C_HUMAN family with sequence similarity 13, member C 151 NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 TGGCAGTCCTCTGGTCTATTC 0.378000 23 53 9.39395e-14 1.26626e-13 1 1 0 IL31RA 133396 broad.mit.edu 37 5 55179017 55179017 + Silent SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr5:55179017C>A ENST00000396834.1 + 7 1039 c.543C>A c.(541-543)acC>acA p.T181T IL31RA_ENST00000396836.2_Silent_p.T200T|IL31RA_ENST00000359040.5_Silent_p.T200T|IL31RA_ENST00000447346.2_Silent_p.T200T|IL31RA_ENST00000297015.3_Silent_p.T58T|IL31RA_ENST00000354961.4_Silent_p.T181T|IL31RA_ENST00000490985.1_Silent_p.T58T NM_001242638.1 NP_001229567.1 Q8NI17 IL31R_HUMAN interleukin 31 receptor A 168 Fibronectin type-III 2. anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway integral to membrane|plasma membrane cytokine receptor activity|protein kinase binding|transcription coactivator activity endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1) 21 Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223) TCAACAGTACCAGCTGGGTAA 0.368000 16 19 1.5739e-10 1.99337e-10 1 1 0 RQCD1 9125 broad.mit.edu 37 2 219452363 219452363 + Missense_Mutation SNP A A T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr2:219452363A>T ENST00000273064.6 + 5 860 c.485A>T c.(484-486)gAa>gTa p.E162V RQCD1_ENST00000509807.2_Missense_Mutation_p.E194V|RQCD1_ENST00000542068.1_Missense_Mutation_p.E162V|RQCD1_ENST00000295701.5_Missense_Mutation_p.E162V NM_005444.2 NP_005435.1 Q92600 RCD1_HUMAN RCD1 required for cell differentiation1 homolog (S. pombe) 162 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|sex differentiation|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol|nucleus protein binding endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1) 15 Renal(207;0.0915) Epithelial(149;1.13e-06)|all cancers(144;0.000192)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TTAACAACAGAAATTATCCCT 0.308000 3 21 0 0 1 0 0 ADAMTS9 56999 broad.mit.edu 37 3 64617586 64617586 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr3:64617586G>A ENST00000498707.1 - 15 2533 c.2191C>T c.(2191-2193)Cat>Tat p.H731Y ADAMTS9_ENST00000295903.4_Missense_Mutation_p.H703Y NM_182920.1 NP_891550.1 Q9P2N4 ATS9_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 9 731 Cys-rich. glycoprotein catabolic process|multicellular organismal development|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 100 Lung NSC(201;0.00682) BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221) TTTAAAACATGATCGCATCCA 0.333000 8 21 0 0 1 0 0 LMX1A 4009 broad.mit.edu 37 1 165324790 165324790 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:165324790C>A ENST00000342310.3 - 2 389 c.7G>T c.(7-9)Gac>Tac p.D3Y LMX1A_ENST00000294816.2_Missense_Mutation_p.D3Y|LMX1A_ENST00000367893.4_Missense_Mutation_p.D3Y NM_177398.3 NP_796372.1 Q8TE12 LMX1A_HUMAN LIM homeobox transcription factor 1, alpha 3 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4) 35 all_hematologic(923;0.248) TTTAGGCCGTCCAGCATGTTC 0.652000 13 31 0.000219431 0.000236741 1 1 0 SETDB2 83852 broad.mit.edu 37 13 50050716 50050716 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr13:50050716G>T ENST00000354234.4 + 6 1316 c.410G>T c.(409-411)gGt>gTt p.G137V SETDB2_ENST00000317257.8_Missense_Mutation_p.G149V|SETDB2_ENST00000258672.5_Missense_Mutation_p.G137V NM_001160308.1 NP_001153780.1 Q96T68 SETB2_HUMAN SET domain, bifurcated 2 149 cell division|chromosome segregation|heart looping|left/right axis specification|mitosis|negative regulation of transcription, DNA-dependent chromosome|nucleus DNA binding|histone methyltransferase activity (H3-K9 specific)|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 15 Lung NSC(96;0.000408)|Breast(56;0.00131)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;3.1e-09) GACTGCTCTGGTGCTTGTCTG 0.388000 21 109 5.35356e-11 6.83829e-11 1 1 0 FAM83H 286077 broad.mit.edu 37 8 144810154 144810154 + Missense_Mutation SNP C C G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr8:144810154C>G ENST00000388913.3 - 5 1602 c.1477G>C c.(1477-1479)Gcc>Ccc p.A493P NM_198488.3 NP_940890.3 Q6ZRV2 FA83H_HUMAN family with sequence similarity 83, member H 493 biomineral tissue development central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1) 21 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146) CGGGGCCCGGCGCCCAGGGTG 0.766000 3 10 0 0 1 0 0 PFKFB2 5208 broad.mit.edu 37 1 207240992 207240992 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:207240992G>A ENST00000367080.3 + 9 905 c.781G>A c.(781-783)Gag>Aag p.E261K PFKFB2_ENST00000541914.1_Missense_Mutation_p.E75K|PFKFB2_ENST00000545806.1_Missense_Mutation_p.E228K|PFKFB2_ENST00000367079.2_Missense_Mutation_p.E261K|PFKFB2_ENST00000411990.2_Missense_Mutation_p.E163K NM_006212.2 NP_006203.2 O60825 F262_HUMAN 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2 261 Fructose-2,6-bisphosphatase. fructose 2,6-bisphosphate metabolic process|glycolysis cytosol 6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 20 Prostate(682;0.19) TGGAGAAAGCGAGTTCAATCT 0.502000 26 180 0 0 1 0 0 RNASE10 338879 broad.mit.edu 37 14 20979089 20979089 + Silent SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr14:20979089C>T ENST00000430083.1 + 2 947 c.543C>T c.(541-543)aaC>aaT p.N181N RNASE10_ENST00000328444.5_Silent_p.N153N Q5GAN6 RNS10_HUMAN ribonuclease, RNase A family, 10 (non-active) 153 extracellular region nucleic acid binding|pancreatic ribonuclease activity endometrium(1)|large_intestine(2)|lung(8)|urinary_tract(1) 12 all_cancers(95;0.00123) Epithelial(56;1.81e-07)|all cancers(55;1.86e-06) GBM - Glioblastoma multiforme(265;0.022)|READ - Rectum adenocarcinoma(17;0.191) CTGTCTGTAACAGTCCTGTCA 0.478000 14 47 0 0 1 0 0 LRRC37A6P 387646 broad.mit.edu 37 10 27538753 27538753 + RNA SNP G G T rs112015560 TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr10:27538753G>T ENST00000574842.1 + 0 255 LRRC37A6P_ENST00000284414.4_RNA GTAAGCCCCAGGTCCAAAGGT 0.502000 59 114 4.13886e-29 6.46031e-29 1 1 0 SRCAP 10847 broad.mit.edu 37 16 30748387 30748387 + Silent SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr16:30748387C>T ENST00000262518.4 + 34 7411 c.7026C>T c.(7024-7026)gcC>gcT p.A2342A SRCAP_ENST00000344771.4_Silent_p.A2184A|SRCAP_ENST00000395059.2_Silent_p.A2280A NM_006662.2 NP_006653.2 Q6ZRS2 SRCAP_HUMAN Snf2-related CREBBP activator protein 2342 Glu-rich. interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 136 Colorectal(24;0.198) TGGAAGCTGCCCGCAAAGACC 0.587000 32 63 0 0 1 0 0 IGHV2-5 28457 broad.mit.edu 37 14 106494553 106494553 + RNA SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr14:106494553G>A ENST00000390597.2 - 0 44 GTCAGCAGCAGGAGCGTGGAG 0.542000 19 44 0 0 1 0 0 ATP13A2 23400 broad.mit.edu 37 1 17322923 17322923 + Missense_Mutation SNP A A G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:17322923A>G ENST00000452699.1 - 13 1438 c.1249T>C c.(1249-1251)Tat>Cat p.Y417H ATP13A2_ENST00000326735.8_Missense_Mutation_p.Y422H|ATP13A2_ENST00000502860.1_Intron|ATP13A2_ENST00000341676.5_Missense_Mutation_p.Y417H|RP1-37C10.3_ENST00000446261.1_RNA NM_001141973.1|NM_022089.2 NP_001135445.1|NP_071372.1 Q9NQ11 AT132_HUMAN ATPase type 13A2 422 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182) CTGTGTTTATAGAACTTGAAG 0.627000 10 70 0 0 1 0 0 GBP6 163351 broad.mit.edu 37 1 89845994 89845994 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:89845994G>T ENST00000370456.4 + 6 768 c.675G>T c.(673-675)agG>agT p.R225S GBP6_ENST00000535065.1_Missense_Mutation_p.R95S NM_198460.2 NP_940862.2 Q6ZN66 GBP6_HUMAN guanylate binding protein family, member 6 225 GTP binding|GTPase activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 42 Lung NSC(277;0.0908) all cancers(265;0.0108)|Epithelial(280;0.0398) AGTGCATCAGGCGTTTCTTTC 0.408000 24 45 1.1804e-14 1.62431e-14 1 1 0 HSPA12A 259217 broad.mit.edu 37 10 118458211 118458211 + Nonsense_Mutation SNP T T A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr10:118458211T>A ENST00000369209.3 - 5 585 c.481A>T c.(481-483)Aag>Tag p.K161* NM_025015.2 NP_079291.2 O43301 HS12A_HUMAN heat shock 70kDa protein 12A 161 ATP binding breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 32 all cancers(201;0.0158) TTGACTTTCTTGCCATTTGCT 0.498000 46 106 0 0 1 0 0 AIFM1 9131 broad.mit.edu 37 X 129263560 129263560 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chrX:129263560G>T ENST00000287295.3 - 16 2044 c.1814C>A c.(1813-1815)gCc>gAc p.A605D AIFM1_ENST00000440263.1_Missense_Mutation_p.A253D|AIFM1_ENST00000460436.2_Missense_Mutation_p.A266D|AIFM1_ENST00000346424.2_Missense_Mutation_p.A318D|AIFM1_ENST00000319908.3_Missense_Mutation_p.A601D|AIFM1_ENST00000535724.1_3'UTR NM_001130847.3|NM_004208.3 NP_001124319.1|NP_004199.1 O95831 AIFM1_HUMAN apoptosis-inducing factor, mitochondrion-associated, 1 605 activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1) 30 GAATAGTTTGGCTACTTCATT 0.468000 10 72 0.000442599 0.00047184 1 1 0 EHHADH 1962 broad.mit.edu 37 3 184910477 184910477 + Missense_Mutation SNP C C A rs151323332 TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr3:184910477C>A ENST00000231887.3 - 7 1784 c.1709G>T c.(1708-1710)cGa>cTa p.R570L EHHADH_ENST00000456310.1_Missense_Mutation_p.R474L NM_001166415.1|NM_001966.3 NP_001159887.1|NP_001957.2 Q08426 ECHP_HUMAN enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase 570 3-hydroxyacyl-CoA dehydrogenase. peroxisome 3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3) 24 all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247) Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21) NADH(DB00157) CTGGCCAAATCGTCCTAATTC 0.468000 20 28 1.15919e-05 1.2942e-05 1 1 0 COQ5 84274 broad.mit.edu 37 12 120966840 120966840 + Silent SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr12:120966840C>A ENST00000288532.6 - 1 145 c.105G>T c.(103-105)ggG>ggT p.G35G COQ5_ENST00000445328.2_Silent_p.G35G NM_032314.3 NP_115690.3 Q5HYK3 COQ5_HUMAN coenzyme Q5 homolog, methyltransferase (S. cerevisiae) 35 ubiquinone biosynthetic process mitochondrion methyltransferase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(3) 20 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) TTAGTAGGTCCCCGGGCCAAG 0.647000 5 139 0.0293803 0.0299002 1 1 0 SULT1E1 6783 broad.mit.edu 37 4 70715239 70715239 + Missense_Mutation SNP A A T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr4:70715239A>T ENST00000226444.3 - 5 524 c.412T>A c.(412-414)Ttt>Att p.F138I NM_005420.2 NP_005411.1 P49888 ST1E1_HUMAN sulfotransferase family 1E, estrogen-preferring, member 1 138 3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process cytosol|nuclear membrane estrone sulfotransferase activity|flavonol 3-sulfotransferase activity|steroid binding|steroid sulfotransferase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1) 10 AAATAATAAAAGGAAACAGCC 0.373000 17 38 0 0 1 0 0 GAL3ST3 89792 broad.mit.edu 37 11 65810809 65810809 + Silent SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:65810809G>A ENST00000312006.4 - 3 746 c.465C>T c.(463-465)gcC>gcT p.A155A GAL3ST3_ENST00000527878.1_Silent_p.A155A NM_033036.2 NP_149025.1 Q96A11 G3ST3_HUMAN galactose-3-O-sulfotransferase 3 155 monosaccharide metabolic process|oligosaccharide metabolic process|poly-N-acetyllactosamine metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process Golgi cisterna membrane|integral to membrane 3'-phosphoadenosine 5'-phosphosulfate binding|carbohydrate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity kidney(1)|lung(9)|ovary(2)|skin(2) 14 CGAACATGGCGGCCGGCTCGC 0.697000 4 46 0 0 1 0 0 NUP205 23165 broad.mit.edu 37 7 135322681 135322681 + Silent SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr7:135322681C>T ENST00000285968.6 + 37 5165 c.5139C>T c.(5137-5139)cgC>cgT p.R1713R NM_015135.2 NP_055950.1 Q92621 NU205_HUMAN nucleoporin 205kDa 1713 carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 93 CTTGTTAGCGCCAGTGCTTAG 0.373000 7 46 0 0 1 0 0 SCAMP5 192683 broad.mit.edu 37 15 75308946 75308946 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr15:75308946C>T ENST00000361900.6 + 5 356 c.149C>T c.(148-150)aCg>aTg p.T50M SCAMP5_ENST00000425597.3_Missense_Mutation_p.T50M|SCAMP5_ENST00000565923.1_3'UTR|SCAMP5_ENST00000545456.1_Intron|SCAMP5_ENST00000562212.1_Missense_Mutation_p.T50M NM_001178111.1 NP_001171582.1 Q8TAC9 SCAM5_HUMAN secretory carrier membrane protein 5 50 exocytosis|negative regulation of endocytosis|positive regulation of calcium ion-dependent exocytosis|positive regulation of cytokine secretion|protein transport|response to endoplasmic reticulum stress cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane|trans-Golgi network membrane protein binding large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2) 5 AACAGCGTCACGCTGGCCGTG 0.617000 13 94 0 0 1 0 0 FBN3 84467 broad.mit.edu 37 19 8190877 8190877 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:8190877G>A ENST00000600128.1 - 22 3044 c.2630C>T c.(2629-2631)cCg>cTg p.P877L FBN3_ENST00000601739.1_Missense_Mutation_p.P877L|FBN3_ENST00000270509.2_Missense_Mutation_p.P877L Q75N90 FBN3_HUMAN fibrillin 3 877 EGF-like 11; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 132 ACAGACTCCCGGGAAGGACTC 0.637000 10 45 0 0 1 0 0 TMTC1 83857 broad.mit.edu 37 12 29904644 29904644 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr12:29904644C>A ENST00000256062.5 - 5 1042 c.569G>T c.(568-570)aGc>aTc p.S190I TMTC1_ENST00000552618.1_Missense_Mutation_p.S298I|TMTC1_ENST00000381224.2_Missense_Mutation_p.S190I|TMTC1_ENST00000539277.1_Missense_Mutation_p.S298I|TMTC1_ENST00000551659.1_Missense_Mutation_p.S298I NM_175861.3 NP_787057.2 Q8IUR5 TMTC1_HUMAN transmembrane and tetratricopeptide repeat containing 1 298 integral to membrane binding breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032) GAATCCACTGCTCTTGGGTTC 0.582000 9 62 0.000442599 0.00047184 1 1 0 PCNT 5116 broad.mit.edu 37 21 47821627 47821627 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr21:47821627G>A ENST00000359568.5 + 26 5061 c.4954G>A c.(4954-4956)Gag>Aag p.E1652K PCNT_ENST00000480896.1_3'UTR NM_006031.5 NP_006022.3 O95613 PCNT_HUMAN pericentrin 1652 cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 104 Breast(49;0.112) CCTGCGGCGCGAGAGCGAGGT 0.602000 10 83 0 0 1 0 0 MPPED2 744 broad.mit.edu 37 11 30516853 30516853 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:30516853C>A ENST00000448418.2 - 4 886 c.526G>T c.(526-528)Ggt>Tgt p.G176C MPPED2_ENST00000358117.5_Missense_Mutation_p.G176C NM_001145399.1 NP_001138871.1 Q15777 MPPD2_HUMAN metallophosphoesterase domain containing 2 176 nervous system development hydrolase activity|metal ion binding NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(15)|skin(2)|upper_aerodigestive_tract(2) 33 CAAGGTGCACCGTATATCCTG 0.383000 17 26 1.99824e-07 2.35278e-07 1 1 0 LRRC52 440699 broad.mit.edu 37 1 165513699 165513699 + Missense_Mutation SNP C C G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:165513699C>G ENST00000294818.1 + 1 456 c.166C>G c.(166-168)Cgg>Ggg p.R56G RP11-280O1.2_ENST00000438275.1_RNA|RP11-280O1.2_ENST00000421273.1_RNA|RP11-280O1.2_ENST00000416424.1_RNA NM_001005214.3 NP_001005214.2 Q8N7C0 LRC52_HUMAN leucine rich repeat containing 52 56 integral to membrane NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1) 18 all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155) CCTGAACACCCGGAGGCTGTT 0.473000 55 215 0 0 1 0 0 NR2E1 7101 broad.mit.edu 37 6 108489243 108489243 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr6:108489243G>T ENST00000368983.3 + 1 17 c.13G>T c.(13-15)Ggg>Tgg p.G5W NR2E1_ENST00000368986.4_Intron Q9Y466 NR2E1_HUMAN nuclear receptor subfamily 2, group E, member 1 0 regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(16)|prostate(1)|skin(3) 30 all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637) BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689) GTTTCGAGCTGGGGCAGAGGG 0.522000 3 5 2.56e-06 2.90591e-06 1 1 0 PCNXL3 399909 broad.mit.edu 37 11 65387244 65387244 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:65387244C>T ENST00000355703.3 + 8 2388 c.1849C>T c.(1849-1851)Cgg>Tgg p.R617W NM_032223.2 NP_115599.2 Q9H6A9 PCX3_HUMAN pecanex-like 3 (Drosophila) 617 integral to membrane breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1) 13 GGAAGCTCAGCGGGGCCGGGC 0.711000 3 16 0 0 1 0 0 PGR 5241 broad.mit.edu 37 11 100999563 100999563 + Missense_Mutation SNP A A T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:100999563A>T ENST00000325455.5 - 1 1692 c.239T>A c.(238-240)cTg>cAg p.L80Q PGR_ENST00000263463.5_Missense_Mutation_p.L80Q|PGR_ENST00000534013.1_Intron NM_000926.4|NM_001202474.1 NP_000917.3|NP_001189403.1 P06401 PRGR_HUMAN progesterone receptor 80 Modulating, Pro-Rich. cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 36 Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014) LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164) Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396) CACGTCCGACAGCGACTGCTG 0.607000 18 77 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9082741 9082741 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:9082741G>T ENST00000397910.4 - 1 9277 c.9074C>A c.(9073-9075)tCt>tAt p.S3025Y NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 3026 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 ACTAGAACCAGACCTTGCTGC 0.473000 34 74 8.53417e-09 1.0297e-08 1 1 0 DLG2 1740 broad.mit.edu 37 11 84028144 84028144 + Silent SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:84028144G>A ENST00000280241.8 - 1 44 c.45C>T c.(43-45)tcC>tcT p.S15S DLG2_ENST00000398309.2_Intron|DLG2_ENST00000543673.1_Intron|DLG2_ENST00000376104.2_Intron|DLG2_ENST00000398301.2_Silent_p.S15S|DLG2_ENST00000524982.1_Intron|DLG2_ENST00000532653.1_Intron NM_001206769.1 NP_001193698.1 Q15700 DLG2_HUMAN discs, large homolog 2 (Drosophila) 0 cell junction|postsynaptic density|postsynaptic membrane guanylate kinase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 71 all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036) CCATCCCATCGGACCCCCGGC 0.577000 30 208 0 0 1 0 0 ZNF365 22891 broad.mit.edu 37 10 64136037 64136037 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr10:64136037C>A ENST00000395254.3 + 2 365 c.85C>A c.(85-87)Ccg>Acg p.P29T ZNF365_ENST00000395255.3_Missense_Mutation_p.P29T|ZNF365_ENST00000466727.1_Intron|ZNF365_ENST00000410046.3_Missense_Mutation_p.P29T NM_014951.2 NP_055766.2 Q70YC4 TALAN_HUMAN zinc finger protein 365 0 breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 Prostate(12;0.0297)|all_hematologic(501;0.228) ATTACGCTGCCCGAGGTGTGG 0.483000 18 68 4.63292e-17 6.61888e-17 1 1 0 PPFIA1 8500 broad.mit.edu 37 11 70208223 70208223 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:70208223C>T ENST00000253925.7 + 20 2820 c.2605C>T c.(2605-2607)Cgg>Tgg p.R869W AP000487.6_ENST00000528607.1_RNA|PPFIA1_ENST00000389547.3_Missense_Mutation_p.R869W NM_003626.3 NP_003617.1 Q13136 LIPA1_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1 869 cell-matrix adhesion cytoplasm protein binding|signal transducer activity p.R869W(1)|p.R869R(1) breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 65 BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513) GGAGGAAGCCCGGAGACAAGG 0.478000 10 103 0 0 1 0 0 CCL2 6347 broad.mit.edu 37 17 32583785 32583785 + Missense_Mutation SNP A A G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr17:32583785A>G ENST00000225831.4 + 3 304 c.239A>G c.(238-240)cAg>cGg p.Q80R CCL2_ENST00000580907.1_3'UTR NM_002982.3 NP_002973.1 P13500 CCL2_HUMAN chemokine (C-C motif) ligand 2 80 angiogenesis|anti-apoptosis|apoptotic cell clearance|astrocyte cell migration|cell adhesion|cellular response to interferon-gamma|cellular response to interleukin-1|cellular response to lipopolysaccharide|cellular response to tumor necrosis factor|G-protein signaling, coupled to cyclic nucleotide second messenger|helper T cell extravasation|humoral immune response|inflammatory response|JAK-STAT cascade|macrophage chemotaxis|monocyte chemotaxis|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of T cell activation|viral genome replication extracellular space CCR2 chemokine receptor binding|chemokine activity|protein kinase activity|signal transducer activity kidney(1)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1) 6 Breast(3;0.00224) Ovarian(249;0.0694)|Breast(31;0.151)|Lung NSC(157;0.153) UCEC - Uterine corpus endometrioid carcinoma (308;0.000241)|BRCA - Breast invasive adenocarcinoma(366;0.0103) Atorvastatin(DB01076)|Danazol(DB01406)|Mimosine(DB01055)|Simvastatin(DB00641) GACCCCAAGCAGAAGTGGGTT 0.493000 16 27 0 0 1 0 0 SSX7 280658 broad.mit.edu 37 X 52681969 52681969 + Missense_Mutation SNP T T A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chrX:52681969T>A ENST00000298181.5 - 3 293 c.135A>T c.(133-135)aaA>aaT p.K45N NM_173358.2 NP_775494.1 Q7RTT5 SSX7_HUMAN synovial sarcoma, X breakpoint 7 45 KRAB-related. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|skin(1) 16 Ovarian(276;0.236) CATAGCTGATTTTCTCCAAGG 0.383000 20 72 0 0 1 0 0 KLF4 9314 broad.mit.edu 37 9 110248069 110248069 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr9:110248069G>A ENST00000374672.4 - 5 1876 c.1403C>T c.(1402-1404)tCg>tTg p.S468L NM_004235.4 NP_004226.3 O43474 KLF4_HUMAN Kruppel-like factor 4 (gut) 502 fat cell differentiation|mesodermal cell fate determination|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|stem cell maintenance|transcription from RNA polymerase II promoter nucleus RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor recruiting transcription factor activity|transcription regulatory region DNA binding|zinc ion binding breast(1)|central_nervous_system(3)|endometrium(5)|large_intestine(1)|lung(3)|pancreas(1)|prostate(2) 16 GAGGTGGTCCGACCTGGAAAA 0.493000 11 170 0 0 1 0 0 PSG8 440533 broad.mit.edu 37 19 43262389 43262389 + Silent SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:43262389G>T ENST00000404209.4 - 3 570 c.474C>A c.(472-474)ccC>ccA p.P158P PSG8_ENST00000401467.2_Intron|PSG8_ENST00000600709.1_5'UTR|PSG8_ENST00000306511.4_Silent_p.P158P|PSG8_ENST00000406636.3_Silent_p.P36P NM_001130167.1 NP_001123639.1 Q9UQ74 PSG8_HUMAN pregnancy specific beta-1-glycoprotein 8 158 Ig-like C2-type 1. extracellular region breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 40 Prostate(69;0.00899) TGGCCTCCCTGGGGTTTAATT 0.537000 90 397 9.10118e-52 1.48142e-51 1 1 0 ZNF716 441234 broad.mit.edu 37 7 57528666 57528666 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr7:57528666G>T ENST00000420713.1 + 4 611 c.499G>T c.(499-501)Ggt>Tgt p.G167C NM_001159279.1 NP_001152751.1 zinc finger protein 716 breast(1)|kidney(1)|lung(20)|ovary(2) 24 CAAAGTCTTTGGTAAATTTTC 0.348000 7 10 8.12818e-05 8.87178e-05 1 1 0 DAB1 1600 broad.mit.edu 37 1 57481070 57481070 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:57481070G>T ENST00000371236.2 - 12 1193 c.930C>A c.(928-930)ttC>ttA p.F310L DAB1_ENST00000414851.2_Missense_Mutation_p.F292L|DAB1_ENST00000371231.1_Missense_Mutation_p.F343L|DAB1_ENST00000371234.4_Missense_Mutation_p.F310L|DAB1_ENST00000439789.2_Missense_Mutation_p.F224L|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000420954.2_Missense_Mutation_p.F308L O75553 DAB1_HUMAN Dab, reelin signal transducer, homolog 1 (Drosophila) 343 cell differentiation|nervous system development central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5) 64 GCTGACCCCAGAAGGACGGGA 0.607000 9 80 4.68919e-08 5.60056e-08 1 1 0 C1orf116 79098 broad.mit.edu 37 1 207195689 207195689 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:207195689G>T ENST00000359470.5 - 4 1669 c.1420C>A c.(1420-1422)Ctg>Atg p.L474M C1orf116_ENST00000461135.2_Missense_Mutation_p.L228M NM_023938.5 NP_076427.2 Q9BW04 SARG_HUMAN chromosome 1 open reading frame 116 474 cytoplasm|plasma membrane receptor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1) 29 Prostate(682;0.19) ATCTGTCTCAGGCCAGGGGTG 0.557000 17 33 2.48551e-13 3.3145e-13 1 1 0 KRT25 147183 broad.mit.edu 37 17 38907525 38907525 + Silent SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr17:38907525G>A ENST00000312150.4 - 4 783 c.723C>T c.(721-723)aaC>aaT p.N241N NM_181534.3 NP_853512.1 Q7Z3Z0 K1C25_HUMAN keratin 25 241 Linker 12.|Rod. cytoplasm|intermediate filament structural molecule activity endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4) 16 Breast(137;0.00526) CGGGGGCTGCGTTCATCTCCA 0.572000 24 43 0 0 1 0 0 CCDC129 223075 broad.mit.edu 37 7 31683098 31683098 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr7:31683098C>A ENST00000319386.3 + 11 2663 c.1670C>A c.(1669-1671)tCc>tAc p.S557Y CCDC129_ENST00000407970.3_Missense_Mutation_p.S705Y|CCDC129_ENST00000409210.1_Missense_Mutation_p.S613Y|CCDC129_ENST00000451887.2_Missense_Mutation_p.S731Y Q6ZRS4 CC129_HUMAN coiled-coil domain containing 129 705 cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31) 44 ACTGGCAGCTCCAGGTCTGTA 0.537000 9 98 1.76689e-08 2.12046e-08 1 1 0 MMP11 4320 broad.mit.edu 37 22 24123392 24123392 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr22:24123392C>T ENST00000215743.3 + 6 923 c.871C>T c.(871-873)Cca>Tca p.P291S NM_005940.3 NP_005931.2 P24347 MMP11_HUMAN matrix metallopeptidase 11 (stromelysin 3) 291 collagen catabolic process|multicellular organismal development|proteolysis proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1) 27 Medulloblastoma(6;9.86e-08)|all_neural(6;0.000318) AGACGCCCCGCCAGATGCCTG 0.647000 16 205 0 0 1 0 0 CILP2 148113 broad.mit.edu 37 19 19655451 19655451 + Silent SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:19655451C>A ENST00000586018.1 + 8 2217 c.2115C>A c.(2113-2115)cgC>cgA p.R705R CILP2_ENST00000291495.4_Silent_p.R699R Q8IUL8 CILP2_HUMAN cartilage intermediate layer protein 2 699 proteinaceous extracellular matrix carbohydrate binding|carboxypeptidase activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 32 GCTTCCGGCGCGAGGGGTCCT 0.706000 4 10 0.00909568 0.00937143 1 1 0 LEFTY1 10637 broad.mit.edu 37 1 226075329 226075329 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:226075329G>T ENST00000432920.2 - 7 999 c.832C>A c.(832-834)Cgt>Agt p.R278S LEFTY1_ENST00000272134.5_Silent_p.S169S TCTCGTGGACGGACACCAGCC 0.726000 14 66 2.62699e-14 3.58633e-14 1 1 0 SMARCAD1 56916 broad.mit.edu 37 4 95129564 95129564 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr4:95129564G>T ENST00000354268.4 + 2 92 c.19G>T c.(19-21)Gac>Tac p.D7Y SMARCAD1_ENST00000457823.2_Missense_Mutation_p.D7Y Q9H4L7 SMRCD_HUMAN SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1 7 chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination nuclear matrix ATP binding|DNA binding|helicase activity breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 OV - Ovarian serous cystadenocarcinoma(123;4.33e-08) TTTCAACCTGGACCGTTTTCG 0.463000 34 114 1.836e-18 2.65174e-18 1 1 0 FAM168A 23201 broad.mit.edu 37 11 73120643 73120643 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:73120643C>T ENST00000064778.4 - 7 795 c.511G>A c.(511-513)Gtc>Atc p.V171I RP11-809N8.4_ENST00000536855.1_RNA|FAM168A_ENST00000450446.2_Intron|RP11-809N8.4_ENST00000542598.1_RNA|FAM168A_ENST00000356467.4_Missense_Mutation_p.V162I Q92567 F168A_HUMAN family with sequence similarity 168, member A 171 endometrium(3)|kidney(1)|lung(1) 5 TTGGGCTGGACGACCGTGGTA 0.607000 18 115 0 0 1 0 0 DLC1 10395 broad.mit.edu 37 8 13356713 13356713 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr8:13356713C>A ENST00000276297.4 - 2 1277 c.868G>T c.(868-870)Gct>Tct p.A290S DLC1_ENST00000511869.1_Missense_Mutation_p.A290S|DLC1_ENST00000316609.5_Missense_Mutation_p.A290S NM_182643.2 NP_872584.2 Q96QB1 RHG07_HUMAN deleted in liver cancer 1 290 actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction caveola|cytosol|focal adhesion|nucleus Rho GTPase activator activity|SH2 domain binding NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 110 CCATTTTCAGCTGACATTCCA 0.438000 63 70 6.5469e-37 1.04443e-36 1 1 0 PNPLA3 80339 broad.mit.edu 37 22 44324767 44324767 + Missense_Mutation SNP G G A rs141106484 byFrequency TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr22:44324767G>A ENST00000216180.3 + 3 657 c.484G>A c.(484-486)Gtg>Atg p.V162M PNPLA3_ENST00000478713.1_3'UTR|PNPLA3_ENST00000423180.2_Missense_Mutation_p.V158M NM_025225.2 NP_079501.2 Q9NST1 PLPL3_HUMAN patatin-like phospholipase domain containing 3 162 Patatin. triglyceride biosynthetic process|triglyceride catabolic process integral to membrane diolein transacylation activity|mono-olein transacylation activity|phospholipase A2 activity|triglyceride lipase activity cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|prostate(1)|skin(1)|stomach(2) 19 Ovarian(80;0.024)|all_neural(38;0.0416) CTTCAGAGGCGTGGTAAGTCG 0.567000 52 82 0 0 1 0 0 FBXW10 10517 broad.mit.edu 37 17 18682537 18682537 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr17:18682537G>A ENST00000308799.4 + 12 3331 c.3112G>A c.(3112-3114)Ggc>Agc p.G1038S FBXW10_ENST00000301938.4_Missense_Mutation_p.G976S|FBXW10_ENST00000395665.4_Missense_Mutation_p.G1029S|FBXW10_ENST00000395667.1_Missense_Mutation_p.G1028S Q5XX13 FBW10_HUMAN F-box and WD repeat domain containing 10 1029 NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 42 GAAGATCAAAGGCCTGCCTAT 0.458000 19 37 0 0 1 0 0 PIK3C3 5289 broad.mit.edu 37 18 39567840 39567840 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr18:39567840G>A ENST00000262039.4 + 5 682 c.596G>A c.(595-597)aGa>aAa p.R199K PIK3C3_ENST00000398870.3_Missense_Mutation_p.R136K NM_002647.2 NP_002638.2 Q8NEB9 PK3C3_HUMAN phosphatidylinositol 3-kinase, catalytic subunit type 3 199 cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway midbody|phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1) 49 TTGACATTTAGAGAAATAGAA 0.264000 TSP Lung(28;0.18) 6 58 0 0 1 0 0 TGM6 343641 broad.mit.edu 37 20 2375966 2375966 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr20:2375966G>T ENST00000202625.2 + 3 369 c.308G>T c.(307-309)aGc>aTc p.S103I TGM6_ENST00000477505.1_Intron|TGM6_ENST00000381423.1_Missense_Mutation_p.S103I NM_198994.2 NP_945345.2 O95932 TGM3L_HUMAN transglutaminase 6 103 cell death|peptide cross-linking acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4) 52 L-Glutamine(DB00130) AGTCTCGCCAGCCCTCCCAGT 0.587000 4 44 0.00024832 0.000267138 1 1 0 RUNDC1 146923 broad.mit.edu 37 17 41143703 41143703 + Silent SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr17:41143703C>T ENST00000361677.1 + 5 1824 c.1812C>T c.(1810-1812)cgC>cgT p.R604R NM_173079.2 NP_775102.2 Q96C34 RUND1_HUMAN RUN domain containing 1 604 breast(1)|large_intestine(2)|lung(4)|prostate(1) 8 Breast(137;0.00499) BRCA - Breast invasive adenocarcinoma(366;0.161) TGGCTGTGCGCCAGCTCAAAA 0.517000 8 84 0 0 1 0 0 ALYREF 10189 broad.mit.edu 37 17 79846182 79846182 + Silent SNP T T G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr17:79846182T>G ENST00000331204.4 - 5 720 c.694A>C c.(694-696)Agg>Cgg p.R232R ALYREF_ENST00000505490.2_Silent_p.R239R NM_005782.3 NP_005773.3 Q86V81 THOC4_HUMAN Aly/REF export factor 232 intronless viral mRNA export from host nucleus|mRNA 3'-end processing|termination of RNA polymerase II transcription catalytic step 2 spliceosome|cytosol|nuclear speck|transcription export complex nucleotide binding|protein binding|RNA binding TTTGAATTCCTGCCGGCACCT 0.647000 9 32 0 0 1 0 0 TESK2 10420 broad.mit.edu 37 1 45821111 45821111 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:45821111G>T ENST00000372086.3 - 5 804 c.404C>A c.(403-405)tCc>tAc p.S135Y TESK2_ENST00000538496.1_Missense_Mutation_p.S52Y|TESK2_ENST00000486676.1_5'UTR|TESK2_ENST00000341771.6_Missense_Mutation_p.S135Y|TESK2_ENST00000372084.1_Missense_Mutation_p.S135Y NM_007170.2 NP_009101.2 Q96S53 TESK2_HUMAN testis-specific kinase 2 135 Protein kinase. actin cytoskeleton organization|focal adhesion assembly|spermatogenesis nucleus ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 32 Acute lymphoblastic leukemia(166;0.155) CAGGTTCCCGGAGTTGATATA 0.453000 17 48 2.94398e-08 3.52555e-08 1 1 0 ATG4B 23192 broad.mit.edu 37 2 242610158 242610158 + Silent SNP T T C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr2:242610158T>C ENST00000405546.3 + 11 1477 c.975T>C c.(973-975)acT>acC p.T325T ATG4B_ENST00000402096.1_Silent_p.T251T|ATG4B_ENST00000474739.2_Silent_p.T311T|ATG4B_ENST00000404914.3_Silent_p.T325T|ATG4B_ENST00000396411.3_Silent_p.T251T Q9Y4P1 ATG4B_HUMAN autophagy related 4B, cysteine peptidase 325 autophagic vacuole assembly|protein transport|proteolysis cytoplasm cysteine-type peptidase activity|protein binding breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;2.44e-33)|all cancers(36;5.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.75e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0848) TCTGTAAGACTGAAGATGACT 0.552000 3 6 0 0 1 0 0 VSIG1 340547 broad.mit.edu 37 X 107315991 107315991 + Missense_Mutation SNP G G C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chrX:107315991G>C ENST00000415430.3 + 5 766 c.605G>C c.(604-606)gGa>gCa p.G202A VSIG1_ENST00000217957.5_Missense_Mutation_p.G166A|VSIG1_ENST00000485533.1_3'UTR NM_001170553.1 NP_001164024.1 Q86XK7 VSIG1_HUMAN V-set and immunoglobulin domain containing 1 166 Ig-like C2-type 2. integral to membrane breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 17 TCTGCGCTTGGAACACCTTCC 0.473000 47 88 0 0 1 0 0 SYNPO2L 79933 broad.mit.edu 37 10 75410668 75410668 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr10:75410668G>A ENST00000372873.4 - 1 119 c.98C>T c.(97-99)gCa>gTa p.A33V SYNPO2L_ENST00000372872.4_Intron|SYNPO2L_ENST00000394810.2_Intron NM_024875.3 NP_079151.2 Q9H987 SYP2L_HUMAN synaptopodin 2-like 257 PDZ. cytoplasm|cytoskeleton actin binding breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Prostate(51;0.0112) GGTAGTACCTGCATAGAACGA 0.512000 23 53 0 0 1 0 0 STT3A 3703 broad.mit.edu 37 11 125475596 125475596 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:125475596G>T ENST00000392708.4 + 7 740 c.581G>T c.(580-582)tGg>tTg p.W194L STT3A_ENST00000529196.1_Missense_Mutation_p.W194L|STT3A_ENST00000531491.1_Missense_Mutation_p.W102L NM_001278503.1|NM_001278504.1|NM_152713.3 NP_001265432.1|NP_001265433.1|NP_689926.1 P46977 STT3A_HUMAN STT3A, subunit of the oligosaccharyltransferase complex (catalytic) 194 post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane|oligosaccharyltransferase complex dolichyl-diphosphooligosaccharide-protein glycotransferase activity NS(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1) 33 all_hematologic(175;0.228) Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996) TCCATCTGTTGGGCAGCTAAG 0.383000 32 107 3.76114e-14 5.12841e-14 1 1 0 ATP6V1A 523 broad.mit.edu 37 3 113499941 113499941 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr3:113499941G>T ENST00000273398.3 + 3 235 c.127G>T c.(127-129)Gtg>Ttg p.V43L ATP6V1A_ENST00000538620.1_Missense_Mutation_p.V10L NM_001690.3 NP_001681.2 P38606 VATA_HUMAN ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A 43 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytosol|integral to plasma membrane|proton-transporting V-type ATPase, V1 domain ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 GTATGAGCTGGTGAGAGTGGG 0.453000 29 26 2.2171e-23 3.36693e-23 1 1 0 NBAS 51594 broad.mit.edu 37 2 15432864 15432864 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr2:15432864C>A ENST00000281513.5 - 41 4849 c.4824G>T c.(4822-4824)atG>atT p.M1608I NBAS_ENST00000441750.1_Missense_Mutation_p.M1488I NM_015909.3 NP_056993.2 A2RRP1 NBAS_HUMAN neuroblastoma amplified sequence 1608 NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3) 112 GCCTGGTGACCATCTTGATTA 0.433000 17 28 2.35188e-11 3.04225e-11 1 1 0 HDGF 3068 broad.mit.edu 37 1 156713553 156713553 + Nonsense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:156713553C>A ENST00000357325.5 - 5 921 c.607G>T c.(607-609)Gag>Tag p.E203* HDGF_ENST00000368209.5_Nonsense_Mutation_p.E196*|HDGF_ENST00000537739.1_Nonsense_Mutation_p.E203*|HDGF_ENST00000368206.5_Nonsense_Mutation_p.E219*|HDGF_ENST00000465180.1_5'UTR|HDGF_ENST00000416666.2_Nonsense_Mutation_p.E171* NM_004494.2 NP_004485.1 P51858 HDGF_HUMAN hepatoma-derived growth factor 203 Glu-rich. cell proliferation|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent cytoplasm|extracellular space|nucleus DNA binding|growth factor activity|heparin binding|nucleotide binding endometrium(1)|kidney(1)|large_intestine(1)|lung(6) 9 all_hematologic(923;0.088)|Hepatocellular(266;0.158) Breast(1374;0.198) Colorectal(1306;0.018) GAGCCGGGCTCAGAGGGGGTG 0.592000 5 29 0.000602214 0.000639568 1 1 0 GIGYF1 64599 broad.mit.edu 37 7 100282211 100282211 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr7:100282211C>A ENST00000275732.5 - 13 2700 c.1491G>T c.(1489-1491)gaG>gaT p.E497D NM_022574.4 NP_072096.2 O75420 PERQ1_HUMAN GRB10 interacting GYF protein 1 497 GYF. central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 23 Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817) CCTGGAACCACTCTGCCATCT 0.632000 17 115 3.99206e-14 5.43007e-14 1 1 0 MTHFD1L 25902 broad.mit.edu 37 6 151277173 151277173 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr6:151277173G>T ENST00000367321.3 + 17 2043 c.1769G>T c.(1768-1770)gGg>gTg p.G590V NM_001242767.1|NM_001242768.1|NM_015440.4 NP_001229696.1|NP_001229697.1|NP_056255.2 Q6UB35 C1TM_HUMAN methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like 590 Formyltetrahydrofolate synthetase. folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process mitochondrion ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2) 29 Ovarian(120;0.128) OV - Ovarian serous cystadenocarcinoma(155;8.7e-12) ATAACCATCGGGCAGGGAAAC 0.483000 16 16 0.000422831 0.000451839 1 1 0 DUSP27 92235 broad.mit.edu 37 1 167096810 167096810 + Missense_Mutation SNP C C G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:167096810C>G ENST00000361200.2 + 6 2608 c.2442C>G c.(2440-2442)agC>agG p.S814R DUSP27_ENST00000443333.1_Missense_Mutation_p.S814R|DUSP27_ENST00000271385.5_Missense_Mutation_p.S814R|DUSP27_ENST00000485151.1_Intron Q5VZP5 DUS27_HUMAN dual specificity phosphatase 27 (putative) 814 protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3) 89 GTTGCAGAAGCAAAGTGAGGG 0.557000 18 108 0 0 1 0 0 SERPINA7 6906 broad.mit.edu 37 X 105279110 105279110 + Missense_Mutation SNP G G C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chrX:105279110G>C ENST00000327674.4 - 2 1224 c.889C>G c.(889-891)Cag>Gag p.Q297E SERPINA7_ENST00000372563.1_Missense_Mutation_p.Q297E|SERPINA7_ENST00000487487.1_5'UTR P05543 THBG_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7 297 regulation of proteolysis extracellular space serine-type endopeptidase inhibitor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3) 24 Levothyroxine(DB00451)|Liothyronine(DB00279) TACCCCTTCTGTAGTAAGCGG 0.498000 57 234 0 0 1 0 0 DUSP12 11266 broad.mit.edu 37 1 161723052 161723052 + Splice_Site SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:161723052G>A ENST00000367943.4 + 5 893 c.e5+1 DUSP12_ENST00000484291.1_Splice_Site NM_007240.1 NP_009171.1 Q9UNI6 DUS12_HUMAN dual specificity phosphatase 12 positive regulation of glucokinase activity cytoplasm|nucleus protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity|zinc ion binding breast(1)|endometrium(2)|kidney(1)|lung(1) 5 all_hematologic(112;0.0359) BRCA - Breast invasive adenocarcinoma(70;0.00634) GGATGGACAGGTGAGAACACA 0.348000 12 138 0 0 1 0 0 PI4KAP1 728233 broad.mit.edu 37 22 20394535 20394535 + RNA SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr22:20394535C>T ENST00000430523.3 - 0 660 NR_003563.1 ACAGCCGACACGTTGGTGATC 0.498000 17 79 0 0 1 0 0 KEAP1 9817 broad.mit.edu 37 19 10597355 10597355 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:10597355C>A ENST00000171111.5 - 6 2395 c.1848G>T c.(1846-1848)caG>caT p.Q616H KEAP1_ENST00000393623.2_Missense_Mutation_p.Q616H NM_203500.1 NP_987096.1 Q14145 KEAP1_HUMAN kelch-like ECH-associated protein 1 616 regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|midbody|nucleus protein binding breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 92 OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05) GCTGGTCAATCTGCTTCCGGC 0.527000 70 176 1.74474e-33 2.76179e-33 1 1 0 BEND6 221336 broad.mit.edu 37 6 56880051 56880051 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr6:56880051C>T ENST00000370746.3 + 4 688 c.419C>T c.(418-420)tCg>tTg p.S140L BEND6_ENST00000370750.2_3'UTR|BEND6_ENST00000484701.1_3'UTR|BEND6_ENST00000545789.1_Missense_Mutation_p.S42L NM_152731.2 NP_689944.2 Q5SZJ8 BEND6_HUMAN BEN domain containing 6 140 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1) 17 AACAACTCCTCGCCAGATTCA 0.468000 24 164 0 0 1 0 0 COL11A1 1301 broad.mit.edu 37 1 103400654 103400654 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:103400654G>T ENST00000358392.2 - 45 3807 c.3490C>A c.(3490-3492)Cca>Aca p.P1164T COL11A1_ENST00000512756.1_Missense_Mutation_p.P1036T|COL11A1_ENST00000370096.3_Missense_Mutation_p.P1152T|COL11A1_ENST00000353414.4_Missense_Mutation_p.P1113T NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 1152 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) TGAAGACCTGGGGGACCGGGA 0.433000 6 32 0.000274275 0.000293932 1 1 0 C11orf30 56946 broad.mit.edu 37 11 76239405 76239405 + Missense_Mutation SNP A A G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:76239405A>G ENST00000529032.1 + 13 2089 c.2089A>G c.(2089-2091)Agg>Ggg p.R697G C11orf30_ENST00000525038.1_Missense_Mutation_p.R712G|C11orf30_ENST00000524767.1_Missense_Mutation_p.R712G|C11orf30_ENST00000533248.1_Missense_Mutation_p.R711G|C11orf30_ENST00000524490.1_Missense_Mutation_p.R613G|C11orf30_ENST00000334736.3_Missense_Mutation_p.R697G|C11orf30_ENST00000525919.1_Missense_Mutation_p.R698G|C11orf30_ENST00000343878.3_Missense_Mutation_p.R697G Q7Z589 EMSY_HUMAN chromosome 11 open reading frame 30 697 chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2) 60 GCAAGCATCCAGGGTAGCAGA 0.413000 39 113 0 0 1 0 0 SPP1 6696 broad.mit.edu 37 4 88902736 88902736 + Missense_Mutation SNP A A C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr4:88902736A>C ENST00000237623.7 + 5 432 c.284A>C c.(283-285)gAt>gCt p.D95A SPP1_ENST00000395080.3_Missense_Mutation_p.D109A|SPP1_ENST00000360804.4_Missense_Mutation_p.D82A|SPP1_ENST00000509659.1_3'UTR NM_000582.2 NP_000573.1 P10451 OSTP_HUMAN secreted phosphoprotein 1 109 biomineral tissue development|cell adhesion|decidualization|embryo implantation|ossification|response to vitamin D extracellular space cytokine activity NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(1) 13 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;9.87e-05) AACGACTCTGATGATGTAGAT 0.463000 34 226 0 0 1 0 0 CAD 790 broad.mit.edu 37 2 27466162 27466162 + Splice_Site SNP T T A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr2:27466162T>A ENST00000264705.4 + 43 6737 c.e43+2 CAD_ENST00000403525.1_Splice_Site NM_004341.3 NP_004332.2 P27708 PYR1_HUMAN carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase 'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process cytosol|neuronal cell body|nuclear matrix|terminal button aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 92 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) L-Aspartic Acid(DB00128)|L-Glutamine(DB00130) CGAGATAAGGTGGTGCAGCAT 0.562000 14 25 0 0 1 0 0 USP29 57663 broad.mit.edu 37 19 57642760 57642760 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:57642760G>T ENST00000254181.4 + 4 3171 c.2717G>T c.(2716-2718)gGg>gTg p.G906V USP29_ENST00000598197.1_Missense_Mutation_p.G906V NM_020903.2 NP_065954.1 Q9HBJ7 UBP29_HUMAN ubiquitin specific peptidase 29 906 protein modification process|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 85 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) ACACAGGCAGGGGTGATCCCT 0.478000 23 66 4.54149e-19 6.61894e-19 1 1 0 PCF11 51585 broad.mit.edu 37 11 82880442 82880442 + Missense_Mutation SNP G G C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:82880442G>C ENST00000298281.4 + 8 3517 c.3065G>C c.(3064-3066)gGg>gCg p.G1022A NM_015885.3 NP_056969.2 O94913 PCF11_HUMAN PCF11 cleavage and polyadenylation factor subunit 1022 Gly-rich. mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage factor complex cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1) 33 AGAATTGAAGGGCCTCTGGGT 0.507000 17 58 0 0 1 0 0 ADAMTS12 81792 broad.mit.edu 37 5 33549431 33549431 + Silent SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr5:33549431G>T ENST00000504830.1 - 21 4518 c.4183C>A c.(4183-4185)Cgg>Agg p.R1395R ADAMTS12_ENST00000352040.3_Silent_p.R1310R NM_030955.2 NP_112217.2 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 12 1395 TSP type-1 6. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 216 CGGTGGTCCCGGCTGTCCACG 0.572000 HNSCC(64;0.19) 39 197 2.61675e-31 4.11886e-31 1 1 0 DDX60L 91351 broad.mit.edu 37 4 169282357 169282357 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr4:169282357C>A ENST00000511577.1 - 37 5181 c.4934G>T c.(4933-4935)cGt>cTt p.R1645L DDX60L_ENST00000260184.7_Missense_Mutation_p.R1645L Q5H9U9 DDX6L_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like 1645 ATP binding|ATP-dependent helicase activity|RNA binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1) 43 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.175) CTGTCCCATACGCATCCTAAA 0.294000 5 14 0.00307968 0.00321738 1 1 0 CELA3A 10136 broad.mit.edu 37 1 22336325 22336325 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:22336325C>A ENST00000290122.3 + 7 789 c.770C>A c.(769-771)tCc>tAc p.S257Y NM_005747.4 NP_005738.4 chymotrypsin-like elastase family, member 3A endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 ACTCGAGTCTCCGCCTTCATC 0.592000 19 63 1.01871e-10 1.29314e-10 1 1 0 IQSEC3 440073 broad.mit.edu 37 12 247854 247854 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr12:247854C>A ENST00000538872.1 + 4 1443 c.1325C>A c.(1324-1326)gCg>gAg p.A442E RP11-598F7.4_ENST00000505893.2_RNA|IQSEC3_ENST00000326261.4_Missense_Mutation_p.A442E|IQSEC3_ENST00000382841.2_Missense_Mutation_p.A139E Q9UPP2 IQEC3_HUMAN IQ motif and Sec7 domain 3 442 regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031) OV - Ovarian serous cystadenocarcinoma(31;0.00456) LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179) GCCCTGCAggcggccgcgggg 0.771000 3 6 1 1 1 1 0 ACTN2 88 broad.mit.edu 37 1 236918378 236918378 + Silent SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:236918378G>A ENST00000366578.4 + 17 2200 c.2034G>A c.(2032-2034)ctG>ctA p.L678L ACTN2_ENST00000542672.1_Silent_p.L678L|ACTN2_ENST00000546208.1_Silent_p.L172L NM_001103.2|NM_001278343.1 NP_001094.1|NP_001265272.1 P35609 ACTN2_HUMAN actinin, alpha 2 678 focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3) 86 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174) OV - Ovarian serous cystadenocarcinoma(106;0.00168) TGAACCAGCTGAAGCAGTATG 0.532000 59 180 0 0 1 0 0 CELSR1 9620 broad.mit.edu 37 22 46859750 46859750 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr22:46859750C>T ENST00000262738.3 - 2 4036 c.4037G>A c.(4036-4038)gGc>gAc p.G1346D CELSR1_ENST00000395964.1_Missense_Mutation_p.G1346D NM_014246.1 NP_055061.1 Q9NYQ6 CELR1_HUMAN cadherin, EGF LAG seven-pass G-type receptor 1 1346 EGF-like 1; calcium-binding. central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein dimerization activity breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3) 95 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) GCAGCGCAGGCCGTTGATGGG 0.677000 4 13 0 0 1 0 0 GATA3 2625 broad.mit.edu 37 10 8106086 8106086 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr10:8106086G>T ENST00000379328.3 + 4 1477 c.909G>T c.(907-909)aaG>aaT p.K303N GATA3_ENST00000461472.1_Intron|GATA3_ENST00000346208.3_Missense_Mutation_p.K302N NM_001002295.1|NM_002051.2 NP_001002295.1|NP_002042.1 P23771 GATA3_HUMAN GATA binding protein 3 302 aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development nuclear chromatin|nucleolus|nucleoplasm core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2) 87 CCCTCATTAAGCCCAAGCGAA 0.567000 """F, N, S""" breast """HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)""" 22 74 2.39556e-15 3.32503e-15 1 1 0 DGKG 1608 broad.mit.edu 37 3 186038186 186038186 + Silent SNP T T A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr3:186038186T>A ENST00000265022.3 - 2 602 c.63A>T c.(61-63)tcA>tcT p.S21S DGKG_ENST00000382164.4_Silent_p.S21S|DGKG_ENST00000544847.1_Silent_p.S21S|DGKG_ENST00000344484.4_Silent_p.S21S NM_001080744.1|NM_001080745.1|NM_001346.2 NP_001074213.1|NP_001074214.1|NP_001337.2 P49619 DGKG_HUMAN diacylglycerol kinase, gamma 90kDa 21 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation cytoplasm|plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 42 all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) GBM - Glioblastoma multiforme(93;0.0657) Phosphatidylserine(DB00144) ACTCACATTCTGAATATTTCT 0.438000 25 40 0 0 1 0 0 SHANK2 22941 broad.mit.edu 37 11 70507783 70507783 + Splice_Site SNP A A G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:70507783A>G ENST00000338508.4 - 22 1856 c.1856_splice c.e22-1 p.S619_splice SHANK2_ENST00000409161.1_Silent_p.S29S|SHANK2_ENST00000449833.2_Silent_p.S30S|SHANK2_ENST00000449116.2_Silent_p.S30S|SHANK2_ENST00000423696.2_Splice_Site_p.S239_splice|SHANK2_ENST00000409530.1_Silent_p.S29S|SHANK2_ENST00000357171.3_Silent_p.S30S Q9UPX8 SHAN2_HUMAN SH3 and multiple ankyrin repeat domains 2 239 intracellular signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071) TAATGCAGTCACTGTAGAGAG 0.532000 5 250 0 0 1 0 0 USP29 57663 broad.mit.edu 37 19 57642761 57642761 + Silent SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:57642761G>T ENST00000254181.4 + 4 3172 c.2718G>T c.(2716-2718)ggG>ggT p.G906G USP29_ENST00000598197.1_Silent_p.G906G NM_020903.2 NP_065954.1 Q9HBJ7 UBP29_HUMAN ubiquitin specific peptidase 29 906 protein modification process|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 85 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) CACAGGCAGGGGTGATCCCTC 0.483000 23 65 9.95505e-16 1.39383e-15 1 1 0 CPSF1 29894 broad.mit.edu 37 8 145624249 145624249 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr8:145624249G>A ENST00000349769.3 - 17 1652 c.1558C>T c.(1558-1560)Cgg>Tgg p.R520W NM_013291.2 NP_037423.2 Q10570 CPSF1_HUMAN cleavage and polyadenylation specific factor 1, 160kDa 520 mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage and polyadenylation specificity factor complex mRNA 3'-UTR binding|protein binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055) ACCTGGGGCCGGATGCTCTTC 0.637000 19 88 0 0 1 0 0 ODF2L 57489 broad.mit.edu 37 1 86818661 86818661 + Nonsense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:86818661C>A ENST00000359242.3 - 17 2055 c.1774G>T c.(1774-1776)Gaa>Taa p.E592* ODF2L_ENST00000394731.1_Nonsense_Mutation_p.E432*|ODF2L_ENST00000294678.2_Nonsense_Mutation_p.E576*|ODF2L_ENST00000370567.1_Nonsense_Mutation_p.E563*|ODF2L_ENST00000317336.7_Nonsense_Mutation_p.E592*|ODF2L_ENST00000370566.3_Nonsense_Mutation_p.E510* NM_001007022.2 NP_001007023.2 Q9ULJ1 ODF2L_HUMAN outer dense fiber of sperm tails 2-like 592 centrosome endometrium(2)|kidney(2)|large_intestine(10)|lung(6)|ovary(1)|pancreas(1)|skin(1)|stomach(1) 24 all cancers(265;0.0313)|Epithelial(280;0.0611) TCTATTTCTTCAGCAACCTGT 0.269000 3 5 6.4e-05 6.99725e-05 1 1 0 ATRNL1 26033 broad.mit.edu 37 10 117045783 117045783 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr10:117045783C>A ENST00000355044.3 + 15 2417 c.2291C>A c.(2290-2292)tCc>tAc p.S764Y NM_207303.2 NP_997186.1 Q5VV63 ATRN1_HUMAN attractin-like 1 764 C-type lectin. integral to membrane sugar binding NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234) Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827) AGAGTCAATTCCAGTAGAGAA 0.328000 10 31 2.74318e-10 3.45284e-10 1 1 0 CACNA1E 777 broad.mit.edu 37 1 181754913 181754913 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:181754913C>T ENST00000526775.1 + 42 5852 c.5687C>T c.(5686-5688)gCc>gTc p.A1896V CACNA1E_ENST00000367573.2_Missense_Mutation_p.A1915V|CACNA1E_ENST00000367567.4_Missense_Mutation_p.A1522V|CACNA1E_ENST00000357570.5_Missense_Mutation_p.A1866V|CACNA1E_ENST00000367570.1_Missense_Mutation_p.A1915V|CACNA1E_ENST00000358338.5_Missense_Mutation_p.A1847V|CACNA1E_ENST00000360108.3_Missense_Mutation_p.A1896V NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 1915 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 ATTGCTAATGCCAAAGCCCTG 0.512000 37 334 0 0 1 0 0 DNAH9 1770 broad.mit.edu 37 17 11648132 11648132 + Silent SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr17:11648132C>T ENST00000262442.3 + 31 6198 c.6130C>T c.(6130-6132)Cta>Tta p.L2044L DNAH9_ENST00000454412.2_Silent_p.L2044L NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 2044 AAA 1 (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) CGACTGGGGCCTACGGGCCAT 0.562000 12 39 0 0 1 0 0 SLC4A1 6521 broad.mit.edu 37 17 42335534 42335534 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr17:42335534G>T ENST00000262418.6 - 11 1257 c.1102C>A c.(1102-1104)Cca>Aca p.P368T AC003043.1_ENST00000597382.1_Intron NM_000342.3 NP_000333.1 P02730 B3AT_HUMAN solute carrier family 4 (anion exchanger), member 1 368 bicarbonate transport|cellular ion homeostasis basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 40 Breast(137;0.014)|Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.115) GGGTCATCTGGGCCCCCATTT 0.582000 27 65 3.73988e-18 5.38764e-18 1 1 0 ROBO1 6091 broad.mit.edu 37 3 78766919 78766919 + Missense_Mutation SNP C C G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr3:78766919C>G ENST00000436010.2 - 4 1652 c.655G>C c.(655-657)Gtc>Ctc p.V219L ROBO1_ENST00000464233.1_Missense_Mutation_p.V258L|ROBO1_ENST00000467549.1_Missense_Mutation_p.V219L|ROBO1_ENST00000495273.1_Missense_Mutation_p.V219L Q9Y6N7 ROBO1_HUMAN roundabout, axon guidance receptor, homolog 1 (Drosophila) 258 Ig-like C2-type 2. activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway cell surface|cytoplasm|integral to plasma membrane axon guidance receptor activity|identical protein binding|LRR domain binding breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1) 44 Lung SC(41;0.0257)|Lung NSC(201;0.0439) LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274) TTACCTAAGACAGTCAGCTCG 0.378000 6 9 0 0 1 0 0 GLTSCR1L 23506 broad.mit.edu 37 6 42797495 42797495 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr6:42797495G>T ENST00000314073.5 + 6 1600 c.1424G>T c.(1423-1425)gGg>gTg p.G475V GLTSCR1L_ENST00000394168.1_Missense_Mutation_p.G475V GLTSCR1-like TTAGTGTCTGGGCAGACATTT 0.502000 37 78 9.8876e-21 1.46971e-20 1 1 0 SEMA3C 10512 broad.mit.edu 37 7 80458049 80458049 + Missense_Mutation SNP G G C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr7:80458049G>C ENST00000265361.3 - 3 677 c.116C>G c.(115-117)aCc>aGc p.T39S SEMA3C_ENST00000419255.2_Missense_Mutation_p.T39S|SEMA3C_ENST00000544525.1_Missense_Mutation_p.T57S|SEMA3C_ENST00000536800.1_Intron NM_006379.3 NP_006370.1 Q99985 SEM3C_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C 39 Sema. immune response|response to drug membrane receptor activity NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 34 AGAGGTCTTGGTTTCTCGAAG 0.353000 11 75 0 0 1 0 0 PTGER4 5734 broad.mit.edu 37 5 40681530 40681530 + Silent SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr5:40681530G>A ENST00000302472.3 + 2 1459 c.435G>A c.(433-435)gcG>gcA p.A145A PTGER4_ENST00000514343.1_3'UTR NM_000958.2 NP_000949.1 P35408 PE2R4_HUMAN prostaglandin E receptor 4 (subtype EP4) 145 G-protein signaling, coupled to cAMP nucleotide second messenger|immune response integral to membrane|plasma membrane prostaglandin E receptor activity breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 CAGTCTATGCGTCCAACGTGC 0.582000 OREG0016588 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 23 299 0 0 1 0 0 FAM83H 286077 broad.mit.edu 37 8 144811424 144811424 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr8:144811424G>A ENST00000388913.3 - 3 642 c.517C>T c.(517-519)Cgt>Tgt p.R173C NM_198488.3 NP_940890.3 Q6ZRV2 FA83H_HUMAN family with sequence similarity 83, member H 173 biomineral tissue development central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1) 21 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146) GGGACCCGACGGGCCGCGGCC 0.627000 21 58 0 0 1 0 0 WDR81 124997 broad.mit.edu 37 17 1636085 1636085 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr17:1636085G>T ENST00000409644.1 + 6 4449 c.4449G>T c.(4447-4449)gaG>gaT p.E1483D RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000309182.5_Missense_Mutation_p.E432D|WDR81_ENST00000545662.1_Missense_Mutation_p.E114D|WDR81_ENST00000419248.1_Missense_Mutation_p.E256D|WDR81_ENST00000437219.2_Missense_Mutation_p.E280D|WDR81_ENST00000446363.1_Missense_Mutation_p.E122D NM_001163809.1 NP_001157281.1 B3KXU1 B3KXU1_HUMAN WD repeat domain 81 256 cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1) 16 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) TCACCCTGGAGATGGCATACA 0.627000 11 15 1.58986e-06 1.82314e-06 1 1 0 TP73-AS1 57212 broad.mit.edu 37 1 3662277 3662277 + RNA SNP A A G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:3662277A>G ENST00000452079.1 - 0 1609 TP73-AS1_ENST00000418088.1_RNA|TP73-AS1_ENST00000544565.1_RNA|TP73-AS1_ENST00000423764.1_RNA NR_033711.1 CTGGTCCTCCACCACGTACAG 0.592000 4 22 0 0 1 0 0 IL13RA2 3598 broad.mit.edu 37 X 114251748 114251748 + Missense_Mutation SNP C C T rs148209653 TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chrX:114251748C>T ENST00000371936.1 - 3 334 c.85G>A c.(85-87)Gag>Aag p.E29K IL13RA2_ENST00000243213.1_Missense_Mutation_p.E29K|IL13RA2_ENST00000468224.1_5'UTR Q14627 I13R2_HUMAN interleukin 13 receptor, alpha 2 29 extracellular space|integral to membrane|soluble fraction cytokine receptor activity NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 23 CCTTTTATCTCGGTGTCTGAA 0.323000 23 65 0 0 1 0 0 FFAR3 2865 broad.mit.edu 37 19 35849881 35849881 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:35849881C>A ENST00000327809.4 + 2 290 c.89C>A c.(88-90)cCc>cAc p.P30H FFAR3_ENST00000594310.1_Missense_Mutation_p.P30H NM_005304.3 NP_005295.1 O14843 FFAR3_HUMAN free fatty acid receptor 3 30 integral to plasma membrane G-protein coupled receptor activity|lipid binding endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1) 17 all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162) Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221) GTGGGGCTCCCCCTCAACCTG 0.647000 14 177 2.48551e-13 3.3145e-13 1 1 0 RFWD2 64326 broad.mit.edu 37 1 175996759 175996759 + Missense_Mutation SNP A A G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:175996759A>G ENST00000367669.3 - 15 2192 c.1678T>C c.(1678-1680)Tgt>Cgt p.C560R RFWD2_ENST00000308769.8_Missense_Mutation_p.C536R NM_022457.5 NP_071902.2 Q8NHY2 RFWD2_HUMAN ring finger and WD repeat domain 2, E3 ubiquitin protein ligase 560 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest centrosome|cytosol|focal adhesion|nuclear speck protein binding|ubiquitin-protein ligase activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 30 AATTTAACACAGCACACATTA 0.408000 16 67 0 0 1 0 0 SVOPL 136306 broad.mit.edu 37 7 138333799 138333799 + Silent SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr7:138333799G>A ENST00000421622.1 - 4 466 c.258C>T c.(256-258)cgC>cgT p.R86R SVOPL_ENST00000288513.5_Silent_p.R54R|SVOPL_ENST00000419765.3_Silent_p.R206R|SVOPL_ENST00000436657.1_Silent_p.R54R Q8N434 SVOPL_HUMAN SVOP-like 206 integral to membrane transmembrane transporter activity NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 19 TGGAGGCGACGCGAATGAGCC 0.612000 13 61 0 0 1 0 0 FBN2 2201 broad.mit.edu 37 5 127692978 127692978 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr5:127692978C>A ENST00000508053.1 - 26 3638 c.2664G>T c.(2662-2664)ttG>ttT p.L888F FBN2_ENST00000262464.4_Missense_Mutation_p.L888F|FBN2_ENST00000508989.1_Missense_Mutation_p.L855F P35556 FBN2_HUMAN fibrillin 2 888 EGF-like 13; calcium-binding. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 197 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) CAATACAGATCAATCCTGTGG 0.423000 9 21 0.00829132 0.008594 1 1 0 CUX2 23316 broad.mit.edu 37 12 111779638 111779638 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr12:111779638C>T ENST00000261726.6 + 21 3594 c.3440C>T c.(3439-3441)cCg>cTg p.P1147L NM_015267.3 NP_056082.2 O14529 CUX2_HUMAN cut-like homeobox 2 1147 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 55 AGTGAGTCCCCGGCCACCCGC 0.667000 32 71 0 0 1 0 0 INA 9118 broad.mit.edu 37 10 105048117 105048117 + Splice_Site SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr10:105048117G>A ENST00000369849.4 + 3 1240 c.1190_splice c.e3-1 p.R397_splice NM_032727.3 NP_116116.1 Q16352 AINX_HUMAN internexin neuronal intermediate filament protein, alpha 397 Coil 2.|Rod. cell differentiation|nervous system development neurofilament structural constituent of cytoskeleton breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(2) 13 Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198) GAATTTACAGGAAACTGCTGG 0.458000 16 98 0 0 1 0 0 SLC12A6 9990 broad.mit.edu 37 15 34528220 34528220 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr15:34528220G>A ENST00000354181.3 - 24 3715 c.3223C>T c.(3223-3225)Cgt>Tgt p.R1075C SLC12A6_ENST00000558589.1_Missense_Mutation_p.R1066C|SLC12A6_ENST00000560164.1_Missense_Mutation_p.R887C|SLC12A6_ENST00000558667.1_Missense_Mutation_p.R1075C|SLC12A6_ENST00000458406.2_Missense_Mutation_p.R1016C|SLC12A6_ENST00000397702.2_Missense_Mutation_p.R1016C|SLC12A6_ENST00000397707.2_Missense_Mutation_p.R1060C|SLC12A6_ENST00000451844.2_Missense_Mutation_p.R887C|SLC12A6_ENST00000290209.5_Missense_Mutation_p.R1024C|SLC12A6_ENST00000560611.1_Missense_Mutation_p.R1075C Q9UHW9 S12A6_HUMAN solute carrier family 12 (potassium/chloride transporter), member 6 1075 angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport basolateral plasma membrane|integral to membrane potassium:chloride symporter activity central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3) 45 all_lung(180;2.78e-08) all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301) Potassium Chloride(DB00761) ACTTACGGACGCATGTTAAGC 0.453000 9 72 0 0 1 0 0 KCNA5 3741 broad.mit.edu 37 12 5154517 5154517 + Missense_Mutation SNP A A T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr12:5154517A>T ENST00000252321.3 + 1 1433 c.1204A>T c.(1204-1206)Atc>Ttc p.I402F NM_002234.3 NP_002225.2 P22460 KCNA5_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 5 402 Golgi apparatus|voltage-gated potassium channel complex delayed rectifier potassium channel activity NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2) 52 CCTCCGAGTCATCCGCCTGGT 0.657000 14 43 0 0 1 0 0 GRM6 2916 broad.mit.edu 37 5 178413314 178413314 + Silent SNP G G T rs149210562 byFrequency TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr5:178413314G>T ENST00000231188.5 - 8 2119 c.1941C>A c.(1939-1941)gcC>gcA p.A647A GRM6_ENST00000517717.1_Silent_p.A647A|RP11-281O15.4_ENST00000519491.1_RNA NM_000843.3 NP_000834.2 O15303 GRM6_HUMAN glutamate receptor, metabotropic 6 647 detection of visible light|visual perception integral to plasma membrane NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1) 55 all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.245) CACAGACCGCGGCCCCAGGCT 0.647000 9 11 1.76689e-08 2.12046e-08 1 1 0 SOCS5 9655 broad.mit.edu 37 2 46986015 46986015 + Nonsense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr2:46986015C>T ENST00000306503.5 + 2 518 c.346C>T c.(346-348)Cga>Tga p.R116* SOCS5_ENST00000394861.2_Nonsense_Mutation_p.R116* NM_014011.4 NP_054730.1 O75159 SOCS5_HUMAN suppressor of cytokine signaling 5 116 cell growth|cytokine-mediated signaling pathway|intracellular signal transduction|negative regulation of signal transduction|negative regulation of T-helper 2 cell differentiation|positive regulation of T-helper 1 cell differentiation|regulation of growth breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2) 22 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) LUSC - Lung squamous cell carcinoma(58;0.114) TTCCTACTCTCGACATGCTCC 0.418000 21 46 0 0 1 0 0 GABRD 2563 broad.mit.edu 37 1 1961533 1961533 + Missense_Mutation SNP T T A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:1961533T>A ENST00000378585.4 + 9 1254 c.1171T>A c.(1171-1173)Tac>Aac p.Y391N NM_000815.4 NP_000806.2 O14764 GBRD_HUMAN gamma-aminobutyric acid (GABA) A receptor, delta 391 cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2) 20 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128) Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2) GATGGGCTCCTACAGGTCGGT 0.706000 14 42 0 0 1 0 0 SDHA 6389 broad.mit.edu 37 5 251128 251128 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr5:251128G>A ENST00000264932.6 + 12 1688 c.1573G>A c.(1573-1575)Gtg>Atg p.V525M SDHA_ENST00000504309.1_Intron|SDHA_ENST00000510361.1_Missense_Mutation_p.V477M NM_004168.2 NP_004159.2 P31040 DHSA_HUMAN succinate dehydrogenase complex, subunit A, flavoprotein (Fp) 525 nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle mitochondrial respiratory chain complex II electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 40 Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113) Succinic acid(DB00139) TCATGCTGCCGTGTTCCGTGT 0.448000 Familial Paragangliomas 24 334 0 0 1 0 0 SHANK1 50944 broad.mit.edu 37 19 51220084 51220084 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:51220084G>T ENST00000293441.1 - 1 111 c.93C>A c.(91-93)gaC>gaA p.D31E SHANK1_ENST00000359082.3_Missense_Mutation_p.D31E|SHANK1_ENST00000391814.1_Missense_Mutation_p.D31E NM_016148.2 NP_057232.2 Q9Y566 SHAN1_HUMAN SH3 and multiple ankyrin repeat domains 1 31 cytoskeletal anchoring at plasma membrane cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane ionotropic glutamate receptor binding breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 64 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199) GACCTGGCCCGTCTGGGGAGC 0.711000 4 16 0.014758 0.0151151 1 1 0 BBOX1 8424 broad.mit.edu 37 11 27114810 27114810 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:27114810C>A ENST00000263182.3 + 5 798 c.430C>A c.(430-432)Ctc>Atc p.L144I RP11-1L12.3_ENST00000526061.1_RNA|BBOX1_ENST00000529202.1_Missense_Mutation_p.L144I|BBOX1_ENST00000525090.1_Missense_Mutation_p.L144I|BBOX1_ENST00000527505.1_Intron|RP11-1L12.3_ENST00000530430.1_RNA|RP11-1L12.3_ENST00000525302.1_RNA|BBOX1_ENST00000528583.1_Missense_Mutation_p.L144I NM_003986.2 NP_003977.1 O75936 BODG_HUMAN butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1 144 carnitine biosynthetic process actin cytoskeleton|cytosol|intracellular membrane-bounded organelle gamma-butyrobetaine dioxygenase activity|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding breast(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 23 Succinic acid(DB00139)|Vitamin C(DB00126) GCTCTCCACCCTCAAGAAAGT 0.438000 18 60 2.48551e-13 3.3145e-13 1 1 0 TRAP1 10131 broad.mit.edu 37 16 3740936 3740936 + Nonsense_Mutation SNP G G A rs141984778 TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr16:3740936G>A ENST00000246957.5 - 2 227 c.139C>T c.(139-141)Cga>Tga p.R47* TRAP1_ENST00000538171.1_Intron NM_016292.2 NP_057376.2 Q12931 TRAP1_HUMAN TNF receptor-associated protein 1 47 cellular response to oxidative stress|protein folding mitochondrion ATP binding|tumor necrosis factor receptor binding|unfolded protein binding central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 19 Ovarian(90;0.0261) GCTGGGTTTCGCCTGGGGCCC 0.537000 OREG0023572 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 16 61 0 0 1 0 0 RHOB 388 broad.mit.edu 37 2 20647703 20647703 + Nonsense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr2:20647703C>A ENST00000272233.4 + 1 869 c.477C>A c.(475-477)tgC>tgA p.C159* NM_004040.2 NP_004031.1 P62745 RHOB_HUMAN ras homolog family member B 159 angiogenesis|axon guidance|cell adhesion|endosome to lysosome transport|negative regulation of cell cycle|platelet activation|positive regulation of angiogenesis|protein transport|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|transformed cell apoptosis cytosol|late endosome membrane|nucleus|plasma membrane GTP binding|GTPase activity|protein binding breast(1)|kidney(1)|lung(2)|ovary(1)|urinary_tract(2) 7 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) all_epithelial(98;4.19e-09)|Lung NSC(108;0.00452)|Ovarian(717;0.0164) OV - Ovarian serous cystadenocarcinoma(76;1.14e-22)|Epithelial(75;7.84e-19) ACCTCGAGTGCTCTGCCAAGA 0.662000 6 206 0.00116845 0.00122986 1 1 0 SLC22A23 63027 broad.mit.edu 37 6 3284173 3284173 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr6:3284173G>A ENST00000436008.2 - 10 2102 c.1640C>T c.(1639-1641)gCg>gTg p.A547V PSMG4_ENST00000451246.2_Intron|SLC22A23_ENST00000406686.3_Missense_Mutation_p.A539V|SLC22A23_ENST00000490273.1_Missense_Mutation_p.A258V|SLC22A23_ENST00000380302.4_Missense_Mutation_p.A258V A1A5C7 S22AN_HUMAN solute carrier family 22, member 23 539 ion transport integral to membrane transmembrane transporter activity endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1) 14 Ovarian(93;0.0493) all_hematologic(90;0.0905) GATGGAAAACGCGATGGAAAA 0.587000 7 24 0 0 1 0 0 ANKRD44 91526 broad.mit.edu 37 2 197990610 197990610 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr2:197990610C>A ENST00000328737.2 - 5 414 c.338G>T c.(337-339)cGa>cTa p.R113L ANKRD44_ENST00000409919.1_Missense_Mutation_p.R138L|ANKRD44_ENST00000337207.5_Missense_Mutation_p.R113L|ANKRD44_ENST00000539527.1_Missense_Mutation_p.R66L|ANKRD44_ENST00000409153.1_Missense_Mutation_p.R138L|ANKRD44_ENST00000450567.1_Missense_Mutation_p.R113L|ANKRD44_ENST00000282272.8_Missense_Mutation_p.R130L Q8N8A2 ANR44_HUMAN ankyrin repeat domain 44 138 protein binding NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 45 OV - Ovarian serous cystadenocarcinoma(117;0.246) GCGCCCCCCTCGGTCGGAGAC 0.552000 36 78 3.09479e-21 4.61543e-21 1 1 0 GRB7 2886 broad.mit.edu 37 17 37902407 37902407 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr17:37902407C>T ENST00000309185.3 + 13 1566 c.1316C>T c.(1315-1317)tCc>tTc p.S439F GRB7_ENST00000445327.2_Silent_p.V491V|GRB7_ENST00000394211.3_Silent_p.V468V|GRB7_ENST00000394209.2_Silent_p.V468V|GRB7_ENST00000309156.4_Silent_p.V468V|GRB7_ENST00000394204.1_Missense_Mutation_p.S439F Q14451 GRB7_HUMAN growth factor receptor-bound protein 7 0 SH2. blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly cytosol|focal adhesion|stress granule phosphatidylinositol binding|protein kinase binding|SH3/SH2 adaptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 18 all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171) AGGGCTTTGTCCTCTCTTTGT 0.592000 61 124 0 0 1 0 0 KCNG1 3755 broad.mit.edu 37 20 49621194 49621194 + Silent SNP G G C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr20:49621194G>C ENST00000371571.4 - 3 1209 c.924C>G c.(922-924)gcC>gcG p.A308A RP5-955M13.4_ENST00000424566.1_RNA|RP5-955M13.3_ENST00000506387.1_RNA NM_002237.3 NP_002228.2 Q9UIX4 KCNG1_HUMAN potassium voltage-gated channel, subfamily G, member 1 308 voltage-gated potassium channel complex voltage-gated potassium channel activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 AGGGCAGGATGGCCACCAGGT 0.687000 3 8 0 0 1 0 0 PARD3B 117583 broad.mit.edu 37 2 206364664 206364664 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr2:206364664G>A ENST00000406610.2 + 21 3296 c.3089G>A c.(3088-3090)cGg>cAg p.R1030Q PARD3B_ENST00000488622.1_3'UTR|PARD3B_ENST00000349953.3_Missense_Mutation_p.R929Q|PARD3B_ENST00000358768.2_Missense_Mutation_p.R968Q|PARD3B_ENST00000351153.1_Missense_Mutation_p.R961Q NM_057177.6|NM_152526.5|NM_205863.3 NP_476518.4|NP_689739.4|NP_995585.2 Q8TEW8 PAR3L_HUMAN par-3 family cell polarity regulator beta 1030 cell cycle|cell division endomembrane system|tight junction breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4) 65 all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06) Epithelial(149;0.0739) CAGAAGTTGCGGAAAGAGTAT 0.463000 22 124 0 0 1 0 0 TTLL11 158135 broad.mit.edu 37 9 124801635 124801635 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr9:124801635G>A ENST00000321582.5 - 2 932 c.745C>T c.(745-747)Cgg>Tgg p.R249W TTLL11_ENST00000373776.3_Missense_Mutation_p.R249W|TTLL11_ENST00000474723.1_5'UTR NM_001139442.1 NP_001132914.1 Q8NHH1 TTL11_HUMAN tubulin tyrosine ligase-like family, member 11 249 TTL. protein modification process cilium|microtubule basal body tubulin-tyrosine ligase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(3)|skin(1) 18 GGCAAGCGCCGGCCAAATGGG 0.433000 16 44 0 0 1 0 0 WNK4 65266 broad.mit.edu 37 17 40932968 40932968 + Silent SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr17:40932968C>T ENST00000246914.5 + 1 273 c.252C>T c.(250-252)ccC>ccT p.P84P NM_032387.4 NP_115763.2 Q96J92 WNK4_HUMAN WNK lysine deficient protein kinase 4 84 intracellular protein kinase cascade tight junction ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1) 35 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.0749) CGGACCCCCCCGATCCTCCGG 0.711000 10 60 0 0 1 0 0 BPNT1 10380 broad.mit.edu 37 1 220253150 220253150 + Silent SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:220253150G>T ENST00000469520.2 - 3 488 c.39C>A c.(37-39)gcC>gcA p.A13A BPNT1_ENST00000354807.3_Silent_p.A13A|BPNT1_ENST00000482136.1_Intron|BPNT1_ENST00000414869.2_Silent_p.A13A|BPNT1_ENST00000544404.1_Intron|BPNT1_ENST00000322067.7_Silent_p.A13A O95861 BPNT1_HUMAN 3'(2'), 5'-bisphosphate nucleotidase 1 13 3'-phosphoadenosine 5'-phosphosulfate metabolic process|nervous system development|xenobiotic metabolic process cytosol 3'(2'),5'-bisphosphate nucleotidase activity breast(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(1)|skin(1) 14 GBM - Glioblastoma multiforme(131;0.0558) AATATGCGGAGGCTACCAACC 0.418000 10 84 6.40141e-05 6.99725e-05 1 1 0 SLC7A13 157724 broad.mit.edu 37 8 87242402 87242402 + Silent SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr8:87242402G>T ENST00000297524.3 - 1 208 c.105C>A c.(103-105)ccC>ccA p.P35P SLC7A13_ENST00000520624.1_Intron|SLC7A13_ENST00000419776.2_Silent_p.P35P NM_138817.2 NP_620172.2 Q8TCU3 S7A13_HUMAN solute carrier family 7 (anionic amino acid transporter), member 13 35 integral to membrane amino acid transmembrane transporter activity breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 45 ACACACCTTTGGGGGACACAA 0.468000 26 45 3.28513e-13 4.36008e-13 1 1 0 ZNF536 9745 broad.mit.edu 37 19 31039221 31039221 + Nonsense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:31039221G>T ENST00000355537.3 + 4 2842 c.2695G>T c.(2695-2697)Gag>Tag p.E899* NM_014717.1 NP_055532.1 O15090 ZN536_HUMAN zinc finger protein 536 899 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 182 Esophageal squamous(110;0.0834) CCACTTCTCTGAGATCGGAAG 0.512000 52 126 3.10996e-30 4.87126e-30 1 1 0 TINAGL1 64129 broad.mit.edu 37 1 32049135 32049135 + Missense_Mutation SNP A A G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:32049135A>G ENST00000271064.7 + 5 617 c.541A>G c.(541-543)Atc>Gtc p.I181V TINAGL1_ENST00000457433.2_Missense_Mutation_p.I150V|TINAGL1_ENST00000481165.1_3'UTR|TINAGL1_ENST00000537531.1_3'UTR NM_001204415.1|NM_022164.2 NP_001191344.1|NP_071447.1 Q9GZM7 TINAL_HUMAN tubulointerstitial nephritis antigen-like 1 181 endosome transport|immune response|proteolysis extracellular region cysteine-type endopeptidase activity|extracellular matrix structural constituent|polysaccharide binding|scavenger receptor activity breast(2)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|urinary_tract(1) 18 Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) STAD - Stomach adenocarcinoma(196;0.0526)|READ - Rectum adenocarcinoma(331;0.145) CCTGGGCACCATCCGCCCATC 0.577000 6 29 0 0 1 0 0 ROR2 4920 broad.mit.edu 37 9 94499774 94499774 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr9:94499774C>A ENST00000375708.3 - 5 719 c.521G>T c.(520-522)tGc>tTc p.C174F ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Missense_Mutation_p.C34F NM_004560.3 NP_004551.2 Q01974 ROR2_HUMAN receptor tyrosine kinase-like orphan receptor 2 174 FZ. negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 71 GTAAGGCTGGCAGAACCCATC 0.512000 39 67 1.57019e-19 2.30494e-19 1 1 0 LRRC15 131578 broad.mit.edu 37 3 194080796 194080796 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr3:194080796C>T ENST00000347624.3 - 2 1062 c.977G>A c.(976-978)cGc>cAc p.R326H LRRC15_ENST00000428839.1_Missense_Mutation_p.R332H|LRRC15_ENST00000439944.2_Missense_Mutation_p.R332H NM_130830.4 NP_570843.2 Q8TF66 LRC15_HUMAN leucine rich repeat containing 15 326 integral to membrane biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_cancers(143;5.31e-09)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.94e-05) GATCTGATTGCGGCTAAGAAT 0.577000 10 49 0 0 1 0 0 CAPSL 133690 broad.mit.edu 37 5 35921166 35921166 + Silent SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr5:35921166G>T ENST00000397367.2 - 2 183 c.57C>A c.(55-57)ctC>ctA p.L19L CAPSL_ENST00000397366.1_Silent_p.L19L|CAPSL_ENST00000514524.1_Silent_p.L19L NM_144647.3 NP_653248.3 Q8WWF8 CAPSL_HUMAN calcyphosine-like 19 cytoplasm calcium ion binding central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1) 19 all_lung(31;0.000268) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202) TGGCCGTGGTGAGCTTTTTCT 0.602000 38 101 3.62531e-18 5.22594e-18 1 1 0 NLRP13 126204 broad.mit.edu 37 19 56423477 56423477 + Missense_Mutation SNP A A G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:56423477A>G ENST00000588751.1 - 5 1730 c.1706T>C c.(1705-1707)tTa>tCa p.L569S NLRP13_ENST00000342929.3_Missense_Mutation_p.L569S Q86W25 NAL13_HUMAN NLR family, pyrin domain containing 13 569 ATP binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1) 109 Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218) GBM - Glioblastoma multiforme(193;0.0642) GTGTTGCAGTAACATCTTCAT 0.428000 40 99 0 0 1 0 0 IRF2BP2 359948 broad.mit.edu 37 1 234744255 234744255 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:234744255G>A ENST00000366609.3 - 1 1016 c.986C>T c.(985-987)cCg>cTg p.P329L IRF2BP2_ENST00000366610.3_Missense_Mutation_p.P329L|RP4-781K5.2_ENST00000436039.1_RNA NM_182972.2 NP_892017.2 Q7Z5L9 I2BP2_HUMAN interferon regulatory factor 2 binding protein 2 329 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 11 Ovarian(103;0.0303) all_cancers(173;0.0236)|Prostate(94;0.0115) OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)|Epithelial(3;6.2e-05) AGTCAGGGCCGGCTCCTTCTT 0.642000 33 14 0 0 1 0 0 SERPINB7 8710 broad.mit.edu 37 18 61471805 61471805 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr18:61471805C>A ENST00000398019.2 + 8 1404 c.1079C>A c.(1078-1080)cCa>cAa p.P360Q SERPINB7_ENST00000540675.1_Missense_Mutation_p.P343Q|SERPINB7_ENST00000336429.2_Missense_Mutation_p.P360Q|SERPINB7_ENST00000546027.1_Missense_Mutation_p.P360Q NM_003784.3 NP_003775.1 O75635 SPB7_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 7 360 regulation of proteolysis cytoplasm serine-type endopeptidase inhibitor activity central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3) 27 Esophageal squamous(42;0.129) GCTGACCACCCATTCCTATTT 0.453000 21 33 7.87624e-14 1.06617e-13 1 1 0 RASA1 5921 broad.mit.edu 37 5 86685290 86685290 + Silent SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr5:86685290C>T ENST00000456692.2 + 24 2590 c.2475C>T c.(2473-2475)tgC>tgT p.C825C RASA1_ENST00000274376.6_Silent_p.C1002C|RASA1_ENST00000512763.1_Silent_p.C835C|RASA1_ENST00000506290.1_Silent_p.C836C NM_022650.2 NP_072179.1 P20936 RASA1_HUMAN RAS p21 protein activator (GTPase activating protein) 1 1002 Ras-GAP. cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis cytosol|intrinsic to internal side of plasma membrane glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 48 all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423) OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31) ATGAGATTTGCGTGGCTCATT 0.448000 8 118 0 0 1 0 0 ERCC6 2074 broad.mit.edu 37 10 50678401 50678401 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr10:50678401G>A ENST00000355832.5 - 18 3683 c.3605C>T c.(3604-3606)cCa>cTa p.P1202L ERCC6_ENST00000542458.1_Missense_Mutation_p.P572L|RP11-123B3.2_ENST00000423283.1_RNA NM_000124.2 NP_000115.1 Q03468 ERCC6_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 6 1202 base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair nucleolus|soluble fraction|transcription elongation factor complex ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 CTTTTGCTTTGGTCTCAGATG 0.403000 Direct reversal of damage;Nucleotide excision repair (NER) 76 214 0 0 1 0 0 PRKCG 5582 broad.mit.edu 37 19 54406349 54406349 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:54406349G>A ENST00000263431.3 + 15 1880 c.1598G>A c.(1597-1599)gGg>gAg p.G533E PRKCG_ENST00000540413.1_Missense_Mutation_p.G533E|PRKCG_ENST00000542049.1_Missense_Mutation_p.G420E NM_002739.3 NP_002730.1 P05129 KPCG_HUMAN protein kinase C, gamma 533 Protein kinase. activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission cytosol ATP binding|protein kinase C activity|zinc ion binding p.G533V(1) large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1) 10 all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218) GBM - Glioblastoma multiforme(134;0.0521) CAGCCCTATGGGAAGTCTGTC 0.547000 109 219 0 0 1 0 0 F2RL2 2151 broad.mit.edu 37 5 75913955 75913955 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr5:75913955G>T ENST00000296641.4 - 2 780 c.577C>A c.(577-579)Ctg>Atg p.L193M IQGAP2_ENST00000274364.6_Intron|IQGAP2_ENST00000396234.3_Intron|IQGAP2_ENST00000502745.1_Intron|IQGAP2_ENST00000379730.3_Intron|F2RL2_ENST00000504899.1_Missense_Mutation_p.L171M NM_004101.3 NP_004092.1 O00254 PAR3_HUMAN coagulation factor II (thrombin) receptor-like 2 193 platelet activation extracellular region|integral to plasma membrane phosphatidylinositol phospholipase C activity|protein binding|thrombin receptor activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(3) 32 all_lung(232;0.000462)|Lung NSC(167;0.00124)|Prostate(461;0.00955)|Ovarian(174;0.0129) all cancers(79;4.43e-43) ACGATGGCCAGGTAGCGGTTG 0.532000 21 27 1.96292e-10 2.47211e-10 1 1 0 PSG1 5669 broad.mit.edu 37 19 43376148 43376148 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:43376148C>A ENST00000244296.2 - 3 617 c.480G>T c.(478-480)gaG>gaT p.E160D PSG1_ENST00000595356.1_Missense_Mutation_p.E160D|PSG1_ENST00000436291.2_Missense_Mutation_p.E160D|PSG1_ENST00000595124.1_Intron|PSG1_ENST00000403380.3_Intron|PSG1_ENST00000312439.6_Missense_Mutation_p.E160D NM_006905.2 NP_008836.2 pregnancy specific beta-1-glycoprotein 1 breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 30 Prostate(69;0.00682) CCTCCATGGTCTCCCTGGGAT 0.537000 72 178 3.28615e-30 5.14364e-30 1 1 0 DSG4 147409 broad.mit.edu 37 18 28993184 28993184 + Missense_Mutation SNP T T A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr18:28993184T>A ENST00000359747.4 + 15 2835 c.2806T>A c.(2806-2808)Tgt>Agt p.C936S DSG4_ENST00000308128.4_Missense_Mutation_p.C917S|RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA NM_001134453.1 NP_001127925.1 Q86SJ6 DSG4_HUMAN desmoglein 4 917 homophilic cell adhesion desmosome|integral to membrane calcium ion binding NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(10;0.00504) TGCTGATCCATGTGTGCAACC 0.433000 88 76 0 0 1 0 0 PRKCQ 5588 broad.mit.edu 37 10 6528031 6528031 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr10:6528031G>A ENST00000263125.5 - 9 965 c.866C>T c.(865-867)gCt>gTt p.A289V PRKCQ_ENST00000397176.2_Missense_Mutation_p.A289V|PRKCQ_ENST00000539722.1_Missense_Mutation_p.A164V NM_006257.3 NP_006248.1 Q04759 KPCT_HUMAN protein kinase C, theta 289 axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway cytosol ATP binding|metal ion binding|protein binding|protein kinase C activity NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2) 45 CAGCGCTTCAGCCATTAGCTT 0.527000 5 56 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132547013 132547013 + Missense_Mutation SNP A A T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr12:132547013A>T ENST00000333577.4 + 48 8318 c.8209A>T c.(8209-8211)Aca>Tca p.T2737S EP400_ENST00000389562.2_Missense_Mutation_p.T2700S|EP400_ENST00000389561.2_Missense_Mutation_p.T2701S|EP400_ENST00000330386.6_Missense_Mutation_p.T2620S|EP400_ENST00000332482.4_Missense_Mutation_p.T2664S Q96L91 EP400_HUMAN E1A binding protein p400 2737 Interaction with ZNF42 (By similarity). histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) CTTCATAGCCACAGGAGTTCA 0.552000 25 54 0 0 1 0 0 TMEM79 84283 broad.mit.edu 37 1 156261411 156261411 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:156261411G>T ENST00000357501.2 + 4 647 c.491G>T c.(490-492)gGa>gTa p.G164V TMEM79_ENST00000295694.5_3'UTR|C1orf85_ENST00000472870.1_Intron|TMEM79_ENST00000495881.1_3'UTR|TMEM79_ENST00000405535.2_3'UTR Q9BSE2 TMM79_HUMAN transmembrane protein 79 0 integral to membrane breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|urinary_tract(1) 21 Hepatocellular(266;0.158) CTCGCCCTCGGAGTAGGGGGT 0.697000 9 50 5.16669e-11 6.62222e-11 1 1 0 RTTN 25914 broad.mit.edu 37 18 67759919 67759919 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr18:67759919C>A ENST00000255674.6 - 29 4311 c.4025G>T c.(4024-4026)gGg>gTg p.G1342V RTTN_ENST00000437017.1_Missense_Mutation_p.G1342V|RTTN_ENST00000454359.1_3'UTR NM_173630.3 NP_775901.3 Q86VV8 RTTN_HUMAN rotatin 1342 binding NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Esophageal squamous(42;0.129) CACCAAGCTCCCAGCCTGGGC 0.453000 38 47 1.96642e-18 2.83827e-18 1 1 0 ZNF436 80818 broad.mit.edu 37 1 23689527 23689527 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:23689527G>T ENST00000314011.4 - 4 484 c.348C>A c.(346-348)agC>agA p.S116R ZNF436_ENST00000374608.3_Missense_Mutation_p.S116R|ZNF436_ENST00000374609.1_Missense_Mutation_p.S116R NM_001077195.1 NP_001070663.1 Q9C0F3 ZN436_HUMAN zinc finger protein 436 116 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 19 Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;5.97e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000977)|KIRC - Kidney renal clear cell carcinoma(1967;0.00336)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187) GGAGAGGATAGCTTACCCACT 0.453000 42 111 2.56662e-36 4.09163e-36 1 1 0 CSMD1 64478 broad.mit.edu 37 8 2832042 2832042 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr8:2832042G>T ENST00000602557.1 - 57 9229 c.8674C>A c.(8674-8676)Ctc>Atc p.L2892I CSMD1_ENST00000602723.1_Missense_Mutation_p.L2834I|CSMD1_ENST00000537824.1_Missense_Mutation_p.L2891I|CSMD1_ENST00000542608.1_Missense_Mutation_p.L2833I|CSMD1_ENST00000520002.1_Missense_Mutation_p.L2892I|CSMD1_ENST00000400186.3_Missense_Mutation_p.L2834I Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 2892 Sushi 21. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) TTGCCTATGAGGCTCTCGCTC 0.602000 11 10 1.61879e-10 2.04676e-10 1 1 0 KAT6B 23522 broad.mit.edu 37 10 76789343 76789343 + Silent SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr10:76789343G>T ENST00000287239.4 + 18 5250 c.4761G>T c.(4759-4761)acG>acT p.T1587T KAT6B_ENST00000372725.1_Silent_p.T1295T|KAT6B_ENST00000372711.1_Silent_p.T1404T|KAT6B_ENST00000372724.1_Silent_p.T1295T|KAT6B_ENST00000372714.1_Silent_p.T1295T NM_001256468.1|NM_012330.3 NP_001243397.1|NP_036462.2 Q8WYB5 MYST4_HUMAN K(lysine) acetyltransferase 6B 1587 Interaction with RUNX1 and RUNX2. histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding TTGCCACCACGCTCGACGATT 0.557000 24 63 1.64293e-13 2.20269e-13 1 1 0 ADAMTS4 9507 broad.mit.edu 37 1 161166039 161166039 + Missense_Mutation SNP C C G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:161166039C>G ENST00000367996.4 - 3 1440 c.1012G>C c.(1012-1014)Gtc>Ctc p.V338L ADAMTS4_ENST00000367995.3_3'UTR NM_005099.4 NP_005090.3 O75173 ATS4_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 4 338 Peptidase M12B. proteolysis|skeletal system development extracellular space|proteinaceous extracellular matrix metalloendopeptidase activity|protease binding|zinc ion binding central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1) 43 all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) GGGTCACAGACGGTGCCCACA 0.567000 17 102 0 0 1 0 0 FAM13C 220965 broad.mit.edu 37 10 61028385 61028385 + Silent SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr10:61028385G>A ENST00000373867.3 - 9 1086 c.621C>T c.(619-621)acC>acT p.T207T FAM13C_ENST00000442566.3_Silent_p.T311T|FAM13C_ENST00000373868.2_Silent_p.T290T|FAM13C_ENST00000468840.2_Silent_p.T207T|FAM13C_ENST00000435852.2_Silent_p.T290T|FAM13C_ENST00000422313.2_Silent_p.T290T|FAM13C_ENST00000277705.6_Silent_p.T311T|FAM13C_ENST00000419214.2_Silent_p.T290T NM_001166698.1 NP_001160170.1 Q8NE31 FA13C_HUMAN family with sequence similarity 13, member C 290 NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 GGATGTGCTTGGTGAGCTGGG 0.483000 5 18 0 0 1 0 0 HOXA3 3200 broad.mit.edu 37 7 27147827 27147827 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr7:27147827G>T ENST00000396352.4 - 3 1238 c.1039C>A c.(1039-1041)Cat>Aat p.H347N HOXA-AS2_ENST00000518088.1_RNA|HOXA3_ENST00000317201.2_Missense_Mutation_p.H347N NM_030661.4 NP_109377.1 O43365 HXA3_HUMAN homeobox A3 347 angiogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1) 29 TGCAGGCCATGAGCGTGCGGG 0.706000 10 10 2.17888e-05 2.41344e-05 1 1 0 TTC7B 145567 broad.mit.edu 37 14 91196486 91196486 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr14:91196486C>A ENST00000357056.2 - 5 752 c.631G>T c.(631-633)Gat>Tat p.D211Y TTC7B_ENST00000328459.6_Missense_Mutation_p.D211Y Q86TV6 TTC7B_HUMAN tetratricopeptide repeat domain 7B 211 binding NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 36 Melanoma(154;0.222) AGTTCTTGATCGTGGGGAGCA 0.408000 30 84 4.22769e-11 5.44046e-11 1 1 0 DNAH3 55567 broad.mit.edu 37 16 21045312 21045312 + Silent SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr16:21045312G>T ENST00000261383.3 - 36 5180 c.5181C>A c.(5179-5181)ctC>ctA p.L1727L DNAH3_ENST00000415178.1_Silent_p.L1727L NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 1727 AAA 2 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) GTAAATCGCCGAGAGCTGCAG 0.532000 8 44 3.09899e-07 3.62599e-07 1 1 0 VAT1L 57687 broad.mit.edu 37 16 78005820 78005820 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr16:78005820C>A ENST00000302536.2 + 8 1304 c.1151C>A c.(1150-1152)cCa>cAa p.P384Q NM_020927.1 NP_065978.1 Q9HCJ6 VAT1L_HUMAN vesicle amine transport 1-like 384 oxidoreductase activity|zinc ion binding central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 24 GAAAAGACCCCAACTCCACTG 0.527000 OREG0023950 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 70 100 5.00936e-31 7.87385e-31 1 1 0 ADAMTSL1 92949 broad.mit.edu 37 9 18636003 18636003 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr9:18636003C>A ENST00000380548.4 + 6 1003 c.664C>A c.(664-666)Cct>Act p.P222T ADAMTSL1_ENST00000380566.4_Missense_Mutation_p.P222T|ADAMTSL1_ENST00000327883.7_Missense_Mutation_p.P222T|ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.P222T NM_001040272.5 NP_001035362.3 Q8N6G6 ATL1_HUMAN ADAMTS-like 1 222 proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 42 GBM - Glioblastoma multiforme(50;1.29e-17) CTTAAAAGGTCCTGATCACTT 0.353000 20 39 6.44725e-10 8.06536e-10 1 1 0 LPP 4026 broad.mit.edu 37 3 188326966 188326966 + Silent SNP A A T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr3:188326966A>T ENST00000312675.4 + 6 693 c.447A>T c.(445-447)acA>acT p.T149T LPP_ENST00000543006.1_Silent_p.T149T|LPP_ENST00000471917.1_3'UTR|LPP_ENST00000448637.1_Silent_p.T149T NM_001167672.1|NM_005578.3 NP_001161144.1|NP_005569.1 Q93052 LPP_HUMAN LIM domain containing preferred translocation partner in lipoma 149 Pro-rich. cell adhesion cytoplasm|focal adhesion|nucleus protein binding|zinc ion binding HMGA2/LPP(161) NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2) 10 all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088) all_lung(153;0.00139)|Lung NSC(153;0.00202) GBM - Glioblastoma multiforme(93;0.00602) CTGGTTCAACAGCCTCTCCTC 0.398000 T """HMGA2, MLL, C12orf9""" """lipoma, leukemia""" 62 110 0 0 1 0 0 SLITRK3 22865 broad.mit.edu 37 3 164907407 164907407 + Silent SNP A A T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr3:164907407A>T ENST00000475390.1 - 2 1655 c.1212T>A c.(1210-1212)ctT>ctA p.L404L SLITRK3_ENST00000241274.3_Silent_p.L404L O94933 SLIK3_HUMAN SLIT and NTRK-like family, member 3 404 LRRNT. integral to membrane NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5) 119 AGGGCCTTGGAAGAAGTTCAG 0.398000 HNSCC(40;0.11) 22 68 0 0 1 0 0 PLEKHA6 22874 broad.mit.edu 37 1 204198183 204198183 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:204198183G>T ENST00000272203.3 - 19 2949 c.2633C>A c.(2632-2634)gCa>gAa p.A878E PLEKHA6_ENST00000414478.1_Missense_Mutation_p.A898E NM_014935.4 NP_055750.2 Q9Y2H5 PKHA6_HUMAN pleckstrin homology domain containing, family A member 6 878 breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 all_cancers(21;0.0222)|Breast(84;0.179) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229) CCGCAGGGCTGCCTCCAGGTT 0.627000 24 70 4.7796e-09 5.81065e-09 1 1 0 XYLB 9942 broad.mit.edu 37 3 38420767 38420767 + Nonsense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr3:38420767C>T ENST00000207870.3 + 15 1315 c.1225C>T c.(1225-1227)Cga>Tga p.R409* XYLB_ENST00000542835.1_Nonsense_Mutation_p.R272*|XYLB_ENST00000472721.1_3'UTR NM_005108.3 NP_005099.2 O75191 XYLB_HUMAN xylulokinase homolog (H. influenzae) 409 D-xylose metabolic process|generation of precursor metabolites and energy|xylulose catabolic process ATP binding|xylulokinase activity endometrium(3)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|prostate(1) 24 KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405) TGTGGAGGTTCGAGCACTAAT 0.527000 14 57 0 0 1 0 0 EDEM3 80267 broad.mit.edu 37 1 184723649 184723649 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:184723649C>A ENST00000318130.8 - 1 398 c.132G>T c.(130-132)atG>atT p.M44I EDEM3_ENST00000367512.3_Start_Codon_SNP_p.M1I NM_025191.3 NP_079467.3 Q9BZQ6 EDEM3_HUMAN ER degradation enhancer, mannosidase alpha-like 3 44 post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein endoplasmic reticulum lumen|endoplasmic reticulum membrane calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 CCTCCCTACTCATGGGCTCGG 0.672000 11 59 0.0135373 0.0139221 1 1 0 KIF26A 26153 broad.mit.edu 37 14 104643535 104643535 + Silent SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr14:104643535C>T ENST00000315264.7 + 11 4371 c.3993C>T c.(3991-3993)tcC>tcT p.S1331S KIF26A_ENST00000423312.2_Silent_p.S1470S Q9ULI4 KI26A_HUMAN kinesin family member 26A 1470 blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus cytosol|microtubule ATP binding|microtubule binding|microtubule motor activity autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 21 all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767) Epithelial(46;0.152) Epithelial(152;0.161) TGCCACCCTCCAGCCCCACAC 0.721000 11 15 0 0 1 0 0 DTNA 1837 broad.mit.edu 37 18 32398187 32398187 + Missense_Mutation SNP C C G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr18:32398187C>G ENST00000283365.9 + 9 1120 c.769C>G c.(769-771)Cga>Gga p.R257G DTNA_ENST00000348997.5_Missense_Mutation_p.R257G|DTNA_ENST00000399113.3_Missense_Mutation_p.R257G|DTNA_ENST00000598334.1_Missense_Mutation_p.R257G|DTNA_ENST00000554864.3_Missense_Mutation_p.R257G|DTNA_ENST00000399097.3_5'UTR|DTNA_ENST00000315456.6_Missense_Mutation_p.R257G|DTNA_ENST00000595022.1_Missense_Mutation_p.R257G|DTNA_ENST00000598142.1_Missense_Mutation_p.R257G|DTNA_ENST00000399121.5_Missense_Mutation_p.R257G|DTNA_ENST00000597599.1_Missense_Mutation_p.R257G|DTNA_ENST00000598774.1_Missense_Mutation_p.R257G|DTNA_ENST00000601125.1_5'UTR|DTNA_ENST00000444659.1_Missense_Mutation_p.R257G|DTNA_ENST00000269191.6_Missense_Mutation_p.R257G|DTNA_ENST00000596745.1_Intron|DTNA_ENST00000269190.7_Missense_Mutation_p.R257G NM_032975.3 NP_116757.2 Q9Y4J8 DTNA_HUMAN dystrobrevin, alpha 257 Interaction with MAGEE1 (By similarity). neuromuscular synaptic transmission|signal transduction|striated muscle contraction cell junction|cytoplasm|synapse calcium ion binding|protein binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1) 29 ATTTCGCTACCGATGCCAACA 0.478000 28 52 0 0 1 0 0 IPO13 9670 broad.mit.edu 37 1 44415552 44415552 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:44415552C>T ENST00000372343.3 + 2 1210 c.548C>T c.(547-549)cCc>cTc p.P183L NM_014652.3 NP_055467.3 O94829 IPO13_HUMAN importin 13 183 protein import into nucleus cytoplasm|nucleus protein binding|protein transporter activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0821) AGTCGCCTACCCCAGTACCGC 0.647000 8 16 0 0 1 0 0 JADE1 79960 broad.mit.edu 37 4 129770171 129770171 + Splice_Site SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr4:129770171G>A ENST00000452328.2 + 5 386 c.296_splice c.e5-1 p.R99_splice PHF17_ENST00000511647.1_Silent_p.R111R|PHF17_ENST00000512960.1_Silent_p.R111R|PHF17_ENST00000226319.6_Silent_p.R111R|PHF17_ENST00000413543.2_Silent_p.R111R Q6IE81 JADE1_HUMAN 99 apoptosis|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell growth|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent histone acetyltransferase complex|mitochondrion protein binding|zinc ion binding NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 29 TGTTCATCAGGCCCAAGAAGT 0.512000 26 73 0 0 1 0 0 MS4A13 503497 broad.mit.edu 37 11 60285611 60285611 + Nonsense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:60285611G>T ENST00000378186.2 + 3 378 c.55G>T c.(55-57)Gga>Tga p.G19* MS4A13_ENST00000527948.1_Nonsense_Mutation_p.G19*|MS4A13_ENST00000378185.2_Nonsense_Mutation_p.G19*|MS4A13_ENST00000437058.2_Nonsense_Mutation_p.G19* NM_001012417.2 NP_001012417.2 Q5J8X5 M4A13_HUMAN membrane-spanning 4-domains, subfamily A, member 13 19 integral to membrane p.G19*(1) endometrium(3)|large_intestine(1)|lung(2)|skin(2) 8 TTTGTATATGGGACAAATTAA 0.328000 15 27 1.49906e-05 1.66537e-05 1 1 0 OR4K17 390436 broad.mit.edu 37 14 20586342 20586342 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr14:20586342C>A ENST00000315543.4 + 1 777 c.777C>A c.(775-777)caC>caA p.H259Q NM_001004715.1 NP_001004715.1 Q8NGC6 OR4KH_HUMAN olfactory receptor, family 4, subfamily K, member 17 231 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3) 21 all_cancers(95;0.00108) Epithelial(56;7.58e-07)|all cancers(55;3.77e-06) GBM - Glioblastoma multiforme(265;0.0144) TTAAGAACCACTCTCCTACTG 0.438000 32 94 3.11337e-16 4.39201e-16 1 1 0 TANC1 85461 broad.mit.edu 37 2 160005783 160005783 + Splice_Site SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr2:160005783G>T ENST00000263635.6 + 6 732 c.495_splice c.e6+1 p.M165_splice TANC1_ENST00000454300.1_Intron NM_001145909.1|NM_033394.2 NP_001139381.1|NP_203752.2 Q9C0D5 TANC1_HUMAN tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 165 cell junction|postsynaptic density|postsynaptic membrane binding breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 77 ATGAAACCATGGTAATGCCCG 0.473000 30 62 8.16721e-17 1.16311e-16 1 1 0 PAPPA2 60676 broad.mit.edu 37 1 176708813 176708813 + Missense_Mutation SNP A A G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:176708813A>G ENST00000367662.3 + 13 5014 c.3850A>G c.(3850-3852)Act>Gct p.T1284A NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 1284 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 TTTTTTGACAACTGATGGCCT 0.438000 23 101 0 0 1 0 0 LHX8 431707 broad.mit.edu 37 1 75609601 75609601 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:75609601G>T ENST00000294638.5 + 7 1346 c.682G>T c.(682-684)Gct>Tct p.A228S LHX8_ENST00000356261.3_Missense_Mutation_p.A218S NM_001001933.1 NP_001001933.1 Q68G74 LHX8_HUMAN LIM homeobox 8 228 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1) 30 AGCAAAAAGAGCTCGGACCAG 0.398000 14 33 6.31663e-08 7.5123e-08 1 1 0 NCAM1 4684 broad.mit.edu 37 11 113103001 113103001 + Silent SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:113103001G>T ENST00000316851.7 + 10 1320 c.1320G>T c.(1318-1320)cgG>cgT p.R440R NCAM1_ENST00000533760.1_Silent_p.R322R|NCAM1_ENST00000401611.2_Silent_p.R449R|NCAM1_ENST00000397957.4_3'UTR NM_001242607.1|NM_181351.4 NP_001229536.1|NP_851996.2 P13591 NCAM1_HUMAN neural cell adhesion molecule 1 450 Ig-like C2-type 5. axon guidance|interferon-gamma-mediated signaling pathway anchored to membrane|extracellular region|Golgi membrane|integral to membrane breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1) 49 all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207) BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212) CATGGTTTCGGGATGGCCAGC 0.557000 18 49 5.03518e-11 6.46105e-11 1 1 0 OR56B1 387748 broad.mit.edu 37 11 5757850 5757850 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:5757850G>T ENST00000317121.3 + 1 170 c.104G>T c.(103-105)tGg>tTg p.W35L TRIM5_ENST00000380027.1_Intron NM_001005180.2 NP_001005180.1 Q8NGI3 O56B1_HUMAN olfactory receptor, family 56, subfamily B, member 1 35 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1) 13 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184) TGGCAACACTGGCTATCTCTG 0.498000 10 42 4.68919e-08 5.60056e-08 1 1 0 LTBR 4055 broad.mit.edu 37 12 6494499 6494499 + Silent SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr12:6494499C>T ENST00000228918.4 + 4 752 c.426C>T c.(424-426)tgC>tgT p.C142C LTBR_ENST00000541102.1_Silent_p.C35C|LTBR_ENST00000539925.1_Silent_p.C123C|LTBR_ENST00000543190.1_Silent_p.C35C NM_002342.1 NP_002333.1 P36941 TNR3_HUMAN lymphotoxin beta receptor (TNFR superfamily, member 3) 142 apoptosis|cellular response to mechanical stimulus|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade integral to membrane protein binding|receptor activity breast(1)|cervix(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2) 15 GTACACACTGCGAGCTACTTT 0.617000 22 43 0 0 1 0 0 SNX32 254122 broad.mit.edu 37 11 65620364 65620364 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:65620364C>T ENST00000308342.6 + 12 1518 c.1093C>T c.(1093-1095)Cgc>Tgc p.R365C NM_152760.2 NP_689973.2 Q86XE0 SNX32_HUMAN sorting nexin 32 365 cell communication|protein transport phosphatidylinositol binding endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 READ - Rectum adenocarcinoma(159;0.171) CTTCAAGTCCCGCCGGGTCTC 0.637000 23 165 0 0 1 0 0 COL4A2 1284 broad.mit.edu 37 13 111130368 111130368 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr13:111130368G>A ENST00000360467.5 + 30 2750 c.2444G>A c.(2443-2445)gGg>gAg p.G815E NM_001846.2 NP_001837.2 P08572 CO4A2_HUMAN collagen, type IV, alpha 2 815 Triple-helical region. angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis collagen type IV extracellular matrix structural constituent|protein binding NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922) Breast(118;0.212) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151) GGGATGCCTGGGATGCCAGGG 0.617000 24 41 0 0 1 0 0 KLC1 3831 broad.mit.edu 37 14 104145828 104145828 + Silent SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr14:104145828C>T ENST00000389744.4 + 13 1865 c.1596C>T c.(1594-1596)taC>taT p.Y532Y KLC1_ENST00000334553.6_Silent_p.Y532Y|KLC1_ENST00000553286.1_Silent_p.Y532Y|KLC1_ENST00000380038.3_Silent_p.Y557Y|KLC1_ENST00000452929.2_Silent_p.Y532Y|KLC1_ENST00000445352.4_Silent_p.Y530Y|KLC1_ENST00000347839.6_Silent_p.Y532Y|KLC1_ENST00000555836.1_Silent_p.Y532Y|KLC1_ENST00000246489.7_Silent_p.Y532Y|KLC1_ENST00000348520.6_Silent_p.Y532Y|KLC1_ENST00000557575.1_Silent_p.Y532Y|KLC1_ENST00000557450.1_Silent_p.Y532Y|KLC1_ENST00000554280.1_Silent_p.Y532Y|RP11-73M18.2_ENST00000472726.2_Silent_p.Y704Y Q07866 KLC1_HUMAN kinesin light chain 1 532 blood coagulation|microtubule-based movement|stress granule disassembly cytosol|kinesin complex|microtubule microtubule motor activity|protein binding KLC1/ALK(2) NS(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1) 12 Melanoma(154;0.155)|all_epithelial(191;0.19) TGGTCAAGTACGAGAGTGGCC 0.582000 7 128 0 0 1 0 0 FAM47A 158724 broad.mit.edu 37 X 34150178 34150178 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chrX:34150178C>A ENST00000346193.3 - 1 269 c.218G>T c.(217-219)cGt>cTt p.R73L NM_203408.3 NP_981953.2 Q5JRC9 FA47A_HUMAN family with sequence similarity 47, member A 73 NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 97 AAACTCGTCACGGCGACAAAC 0.532000 23 87 5.35356e-11 6.83829e-11 1 1 0 PIGA 5277 broad.mit.edu 37 X 15349466 15349466 + Missense_Mutation SNP G G C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chrX:15349466G>C ENST00000333590.4 - 2 671 c.587C>G c.(586-588)gCa>gGa p.A196G PIGA_ENST00000482148.1_Intron|PIGA_ENST00000428964.1_Intron|PIGA_ENST00000542278.1_Intron NM_002641.3 NP_002632.1 P37287 PIGA_HUMAN phosphatidylinositol glycan anchor biosynthesis, class A 196 C-terminal protein lipidation|positive regulation of metabolic process|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane phosphatidylinositol N-acetylglucosaminyltransferase activity|protein binding endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)|prostate(2)|urinary_tract(1) 10 Hepatocellular(33;0.183) ATTCAGTGCTGCTCTTAGTAC 0.393000 15 42 0 0 1 0 0 BEND4 389206 broad.mit.edu 37 4 42145736 42145736 + Missense_Mutation SNP T T A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr4:42145736T>A ENST00000502486.1 - 3 1342 c.763A>T c.(763-765)Aat>Tat p.N255Y BEND4_ENST00000504360.1_Missense_Mutation_p.N251Y NM_207406.3 NP_997289.2 Q6ZU67 BEND4_HUMAN BEN domain containing 4 255 NS(2)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 26 AGCAGGTAATTTTGTAGAGAG 0.478000 18 53 0 0 1 0 0 MMP10 4319 broad.mit.edu 37 11 102646042 102646042 + Nonsense_Mutation SNP G G A rs150825082 byFrequency TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:102646042G>A ENST00000279441.4 - 7 979 c.943C>T c.(943-945)Cga>Tga p.R315* NM_002425.2 NP_002416.1 P09238 MMP10_HUMAN matrix metallopeptidase 10 (stromelysin 2) 315 Hemopexin-like 1. collagen catabolic process|proteolysis extracellular space|proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6) 22 all_epithelial(12;0.00961) all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151) BRCA - Breast invasive adenocarcinoma(274;0.0145) TGGGATCTTCGCCAAAAATAT 0.333000 16 90 0 0 1 0 0 GATAD2B 57459 broad.mit.edu 37 1 153788828 153788828 + Silent SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:153788828G>A ENST00000368655.4 - 7 1380 c.1137C>T c.(1135-1137)ttC>ttT p.F379F NM_020699.2 NP_065750.1 Q8WXI9 P66B_HUMAN GATA zinc finger domain containing 2B 379 CR2. nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 38 all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) CACTAGGCAAGAAATGAAGTA 0.493000 37 84 0 0 1 0 0 ST14 6768 broad.mit.edu 37 11 130079567 130079567 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:130079567G>T ENST00000278742.5 + 19 2835 c.2417G>T c.(2416-2418)gGg>gTg p.G806V NM_021978.3 NP_068813.1 Q9Y5Y6 ST14_HUMAN suppression of tumorigenicity 14 (colon carcinoma) 806 Peptidase S1. proteolysis integral to plasma membrane serine-type endopeptidase activity central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3) 32 all_hematologic(175;0.0429) Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228) Urokinase(DB00013) GGTGATTCCGGGGGACCCCTG 0.721000 11 38 2.80697e-09 3.43296e-09 1 1 0 IRGC 56269 broad.mit.edu 37 19 44223091 44223091 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:44223091G>T ENST00000244314.5 + 2 580 c.381G>T c.(379-381)aaG>aaT p.K127N NM_019612.3 NP_062558.1 Q6NXR0 IIGP5_HUMAN immunity-related GTPase family, cinema 127 membrane GTP binding|hydrolase activity, acting on acid anhydrides central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2) 25 Prostate(69;0.0435) AGTACCTAAAGCAGGTAGACT 0.657000 8 12 5.18039e-06 5.84194e-06 1 1 0 FLT3 2322 broad.mit.edu 37 13 28623839 28623839 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr13:28623839C>A ENST00000380982.4 - 7 896 c.815G>T c.(814-816)tGc>tTc p.C272F FLT3_ENST00000241453.7_Missense_Mutation_p.C272F|FLT3_ENST00000537084.1_Missense_Mutation_p.C272F P36888 FLT3_HUMAN fms-related tyrosine kinase 3 272 Ig-like C2-type. positive regulation of cell proliferation integral to plasma membrane ATP binding|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 12390 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0156)|Ovarian(182;0.0392) Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105) OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212) Sorafenib(DB00398)|Sunitinib(DB01268) AACAGCTTTGCACCTTATCCA 0.413000 """Mis, O""" """AML, ALL""" 10 67 2.17888e-05 2.41344e-05 1 1 0 CHRNA2 1135 broad.mit.edu 37 8 27321355 27321355 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr8:27321355C>T ENST00000407991.1 - 6 1213 c.605G>A c.(604-606)gGc>gAc p.G202D CHRNA2_ENST00000520933.2_Missense_Mutation_p.G202D|CHRNA2_ENST00000240132.2_Missense_Mutation_p.G187D NM_000742.3 NP_000733.2 Q15822 ACHA2_HUMAN cholinergic receptor, nicotinic, alpha 2 (neuronal) 202 cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 23 Ovarian(32;2.61e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136) Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Gallamine Triethiodide(DB00483)|Levallorphan(DB00504)|Mecamylamine(DB00657)|Metocurine Iodide(DB00416)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Rocuronium(DB00728)|Tubocurarine(DB01199) AGTCCAGGAGCCAAACTTCAT 0.577000 30 54 0 0 1 0 0 FRMPD3 84443 broad.mit.edu 37 X 106844065 106844065 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chrX:106844065C>A ENST00000276185.4 + 16 2895 c.2895C>A c.(2893-2895)aaC>aaA p.N965K Q5JV73 FRPD3_HUMAN FERM and PDZ domain containing 3 965 cytoskeleton breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1) 28 TGAGGGACAACCTGCCCAAGG 0.582000 4 20 0.00909568 0.00937143 1 1 0 DIDO1 11083 broad.mit.edu 37 20 61512238 61512238 + Silent SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr20:61512238C>A ENST00000266070.4 - 16 5395 c.5070G>T c.(5068-5070)tcG>tcT p.S1690S DIDO1_ENST00000395343.1_Silent_p.S1690S NM_033081.2 NP_149072.2 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 1690 apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 99 Breast(26;5.68e-08) CCTTGTCCTGCGACGCGAACC 0.652000 29 107 2.12542e-12 2.78953e-12 1 1 0 CCDC108 255101 broad.mit.edu 37 2 219897217 219897217 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr2:219897217G>A ENST00000341552.5 - 6 703 c.620C>T c.(619-621)cCc>cTc p.P207L CCDC108_ENST00000453220.1_Missense_Mutation_p.P207L|CCDC108_ENST00000441968.1_Missense_Mutation_p.P207L|CCDC108_ENST00000409865.3_Missense_Mutation_p.P196L|CCDC108_ENST00000410037.1_Missense_Mutation_p.P142L NM_194302.2 NP_919278.2 Q6ZU64 CC108_HUMAN coiled-coil domain containing 108 207 integral to membrane structural molecule activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Renal(207;0.0915) Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GAAGACGATGGGGAGCGTGAG 0.612000 5 9 0 0 1 0 0 FBN2 2201 broad.mit.edu 37 5 127674690 127674690 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr5:127674690C>T ENST00000508053.1 - 32 4381 c.3407G>A c.(3406-3408)gGc>gAc p.G1136D FBN2_ENST00000262464.4_Missense_Mutation_p.G1136D|FBN2_ENST00000508989.1_Missense_Mutation_p.G1103D|FBN2_ENST00000507835.1_5'UTR P35556 FBN2_HUMAN fibrillin 2 1136 EGF-like 16; calcium-binding. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 197 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) CTCAAAGCTGCCCGGTGTATT 0.463000 33 34 0 0 1 0 0 PODN 127435 broad.mit.edu 37 1 53544151 53544151 + Silent SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:53544151C>T ENST00000371500.3 + 10 1397 c.1056C>T c.(1054-1056)agC>agT p.S352S RP11-334A14.5_ENST00000447867.1_RNA|PODN_ENST00000312553.5_Silent_p.S371S|PODN_ENST00000395871.2_Silent_p.S229S NM_001199080.1 NP_001186009.1 Q7Z5L7 PODN_HUMAN podocan 323 negative regulation of cell migration|negative regulation of cell proliferation cytoplasm|extracellular space|proteinaceous extracellular matrix collagen binding breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 CCATCCGGAGCGTGGACGCGA 0.647000 13 73 0 0 1 0 0 MIA-RAB4B 100529262 broad.mit.edu 37 19 41281460 41281460 + Silent SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:41281460C>T ENST00000600729.1 + 2 435 c.13C>T c.(13-15)Ctg>Ttg p.L5L MIA_ENST00000263369.3_Silent_p.L5L|MIA_ENST00000597784.1_Silent_p.L5L|MIA_ENST00000594436.1_Silent_p.L5L GGCCCGGTCCCTGGTGTGCCT 0.597000 42 243 0 0 1 0 0 ZC3H7B 23264 broad.mit.edu 37 22 41752812 41752812 + Splice_Site SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr22:41752812G>T ENST00000352645.4 + 22 2938 c.2681_splice c.e22+1 p.R894_splice ZC3H7B_ENST00000351589.4_Splice_Site_p.R894_splice NM_017590.4 NP_060060.3 Q9UGR2 Z3H7B_HUMAN zinc finger CCCH-type containing 7B 910 interspecies interaction between organisms nucleus nucleic acid binding|protein binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 38 CTCTGCGACAGGTGCTCCTGG 0.667000 70 67 2.0493e-37 3.27858e-37 1 1 0 TRPM6 140803 broad.mit.edu 37 9 77370382 77370382 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr9:77370382G>A ENST00000451710.3 - 28 5030 c.4793C>T c.(4792-4794)aCa>aTa p.T1598I TRPM6_ENST00000449912.2_Missense_Mutation_p.T1593I|TRPM6_ENST00000376864.4_Missense_Mutation_p.T1598I|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376872.3_Missense_Mutation_p.T549I|TRPM6_ENST00000361255.3_Missense_Mutation_p.T1593I|TRPM6_ENST00000360774.1_Missense_Mutation_p.T1598I Q9BX84 TRPM6_HUMAN transient receptor potential cation channel, subfamily M, member 6 1598 response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 126 GGCATTGACTGTTATGATCTG 0.458000 31 83 0 0 1 0 0 CYLC1 1538 broad.mit.edu 37 X 83127971 83127971 + Missense_Mutation SNP G G C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chrX:83127971G>C ENST00000329312.4 + 4 292 c.255G>C c.(253-255)ttG>ttC p.L85F NM_021118.1 NP_066941.1 P35663 CYLC1_HUMAN cylicin, basic protein of sperm head cytoskeleton 1 85 cell differentiation|multicellular organismal development|spermatogenesis acrosomal matrix|cytoskeletal calyx structural molecule activity NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 58 GAAAAATTTTGCAATGGCCAC 0.363000 5 23 0 0 1 0 0 PLXNC1 10154 broad.mit.edu 37 12 94618092 94618092 + Splice_Site SNP G G C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr12:94618092G>C ENST00000258526.4 + 7 2039 c.e7+1 NM_005761.2 NP_005752.1 O60486 PLXC1_HUMAN plexin C1 axon guidance|cell adhesion integral to membrane|intracellular|plasma membrane receptor activity|receptor binding breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 CATTAAAAGAGTAAGATTTTA 0.343000 23 59 0 0 1 0 0 SON 6651 broad.mit.edu 37 21 34927404 34927404 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr21:34927404G>T ENST00000356577.4 + 3 6342 c.5867G>T c.(5866-5868)cGc>cTc p.R1956L SON_ENST00000381692.2_Intron|SON_ENST00000300278.4_Missense_Mutation_p.R1956L|SON_ENST00000290239.6_Missense_Mutation_p.R1956L|SON_ENST00000381679.4_Missense_Mutation_p.R1956L NM_138927.1 NP_620305.1 P18583 SON_HUMAN SON DNA binding protein 1956 2 X 19 AA repeats of P-S-R-R-R-R-S-R-S-V- V-R-R-R-S-F-S-I-S.|7 X 7 AA repeats of P-S-R-R-S-R-[TS]. anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation nuclear speck DNA binding|double-stranded RNA binding breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 72 CCAAgccgccgcagccgcacc 0.697000 5 10 1.23904e-05 1.37992e-05 1 1 0 FAM129A 116496 broad.mit.edu 37 1 184764687 184764687 + Silent SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:184764687C>T ENST00000367511.3 - 14 2404 c.2211G>A c.(2209-2211)gaG>gaA p.E737E FAM129A_ENST00000487074.1_5'UTR NM_052966.2 NP_443198.1 Q9BZQ8 NIBAN_HUMAN family with sequence similarity 129, member A 737 Glu-rich. negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress cytoplasm|nucleus|plasma membrane autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2) 45 GAACGTGGCTCTCCCCATTCG 0.527000 20 157 0 0 1 0 0 NUP43 348995 broad.mit.edu 37 6 150067624 150067624 + Missense_Mutation SNP T T C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr6:150067624T>C ENST00000340413.2 - 1 84 c.8A>G c.(7-9)gAa>gGa p.E3G NUP43_ENST00000463048.3_Intron|NUP43_ENST00000367403.3_Missense_Mutation_p.E64G|NUP43_ENST00000367404.4_Missense_Mutation_p.E3G|NUP43_ENST00000460354.2_Missense_Mutation_p.E3G NM_198887.1 NP_942590.1 Q8NFH3 NUP43_HUMAN nucleoporin 43kDa 3 carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex protein binding breast(1)|large_intestine(2)|lung(8)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 18 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;4.71e-13)|GBM - Glioblastoma multiforme(68;0.101) CGCATAAATTTCCTCCATGCC 0.572000 OREG0017720 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 47 61 0 0 1 0 0 RGR 5995 broad.mit.edu 37 10 86008673 86008673 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr10:86008673C>A ENST00000359452.4 + 3 282 c.244C>A c.(244-246)Cac>Aac p.H82N RGR_ENST00000372092.3_Missense_Mutation_p.P65Q|RGR_ENST00000358110.5_Intron NM_001012720.1|NM_002921.3 NP_001012738.1|NP_002912.2 P47804 RGR_HUMAN retinal G protein coupled receptor 79 phototransduction|protein-chromophore linkage|visual perception integral to plasma membrane G-protein coupled receptor activity|photoreceptor activity|protein binding breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1) 17 CAGTGTCTCCCACAGGCGCTG 0.617000 14 80 0.00074312 0.000785124 1 1 0 SALL3 27164 broad.mit.edu 37 18 76754197 76754197 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr18:76754197C>T ENST00000536229.3 + 1 2516 c.1807C>T c.(1807-1809)Cgc>Tgc p.R603C SALL3_ENST00000537592.2_Missense_Mutation_p.R736C|SALL3_ENST00000575389.2_Missense_Mutation_p.R736C Q9BXA9 SALL3_HUMAN spalt-like transcription factor 3 736 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 74 Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167) OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256) GCCGCCCCTGCGCGTGCAGCA 0.652000 7 33 0 0 1 0 0 WISP1 8840 broad.mit.edu 37 8 134225326 134225326 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr8:134225326C>T ENST00000250160.6 + 2 395 c.289C>T c.(289-291)Cgg>Tgg p.R97W WISP1_ENST00000220856.6_Missense_Mutation_p.R97W|WISP1_ENST00000519433.1_Intron|WISP1_ENST00000517423.1_Missense_Mutation_p.R97W|WISP1_ENST00000377863.2_Intron NM_003882.3 NP_003873.1 O95388 WISP1_HUMAN WNT1 inducible signaling pathway protein 1 97 IGFBP N-terminal. cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway extracellular region|soluble fraction insulin-like growth factor binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 21 all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0107) TGACCCCCACCGGGGCCTCTA 0.607000 8 72 0 0 1 0 0 CCDC83 220047 broad.mit.edu 37 11 85584275 85584275 + Translation_Start_Site SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:85584275C>A ENST00000376067.1 + 0 629 CCDC83_ENST00000342404.3_Silent_p.A39A|CCDC83_ENST00000529676.2_3'UTR|CCDC83_ENST00000280245.4_Silent_p.A39A Q8IWF9 CCD83_HUMAN coiled-coil domain containing 83 breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|skin(3)|upper_aerodigestive_tract(2) 29 Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572) AGGAAGATGCCGTGGAGCAAT 0.274000 9 24 2.80697e-09 3.43296e-09 1 1 0 SPTA1 6708 broad.mit.edu 37 1 158653227 158653227 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:158653227C>A ENST00000368148.3 - 3 504 c.324G>T c.(322-324)atG>atT p.M108I SPTA1_ENST00000368147.3_Missense_Mutation_p.M108I NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 108 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) CCAGTTCAGACATGAGTCTTG 0.398000 26 82 8.24728e-16 1.15906e-15 1 1 0 CLEC4F 165530 broad.mit.edu 37 2 71044165 71044165 + Silent SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr2:71044165G>A ENST00000272367.2 - 4 424 c.348C>T c.(346-348)gcC>gcT p.A116A CLEC4F_ENST00000426626.1_Silent_p.A116A NM_001258027.1|NM_173535.2 NP_001244956.1|NP_775806.2 Q8N1N0 CLC4F_HUMAN C-type lectin domain family 4, member F 116 endocytosis integral to membrane receptor activity|sugar binding endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2) 37 CTACTACCCAGGCACTGGAAT 0.493000 24 60 0 0 1 0 0 KRTAP11-1 337880 broad.mit.edu 37 21 32253635 32253635 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr21:32253635C>A ENST00000332378.4 - 1 239 c.209G>T c.(208-210)tGt>tTt p.C70F NM_175858.2 NP_787054.1 Q8IUC1 KR111_HUMAN keratin associated protein 11-1 70 keratin filament structural molecule activity breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|pancreas(1) 18 TCGCCGGTAACAGGTTGGCTG 0.572000 18 22 8.28177e-16 1.16245e-15 1 1 0 ADAM19 8728 broad.mit.edu 37 5 156921727 156921727 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr5:156921727G>T ENST00000257527.4 - 15 1749 c.1671C>A c.(1669-1671)gaC>gaA p.D557E ADAM19_ENST00000394020.1_Missense_Mutation_p.D559E|ADAM19_ENST00000430702.2_Missense_Mutation_p.D290E|ADAM19_ENST00000517905.1_Missense_Mutation_p.D557E NM_033274.3 NP_150377.1 Q9H013 ADA19_HUMAN ADAM metallopeptidase domain 19 557 Cys-rich. D -> V (in Ref. 1; AAG50282 and 5; AAF22162). proteolysis integral to membrane metalloendopeptidase activity|SH3 domain binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 53 Renal(175;0.00488) Medulloblastoma(196;0.0359)|all_neural(177;0.14) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) CACCATTCATGTCCTTTCCAC 0.517000 19 35 2.39187e-15 3.32503e-15 1 1 0 FAM120C 54954 broad.mit.edu 37 X 54209050 54209050 + Silent SNP C C G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chrX:54209050C>G ENST00000375180.2 - 1 638 c.582G>C c.(580-582)gcG>gcC p.A194A FAM120C_ENST00000328235.4_Silent_p.A194A|FAM120C_ENST00000497680.1_5'UTR|FAM120C_ENST00000477084.1_Silent_p.A194A NM_017848.4 NP_060318.3 Q9NX05 F120C_HUMAN family with sequence similarity 120C 194 breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 28 CGATCAGTTGCGCTGTCTGCC 0.716000 3 19 0 0 1 0 0 AHNAK 79026 broad.mit.edu 37 11 62292479 62292479 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:62292479G>A ENST00000378024.4 - 5 9684 c.9410C>T c.(9409-9411)cCa>cTa p.P3137L AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 3137 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) ATCCACATCTGGGGCATTAAT 0.468000 208 228 0 0 1 0 0 CXXC11 285093 broad.mit.edu 37 2 242815330 242815330 + Silent SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr2:242815330C>T ENST00000343216.3 + 2 1651 c.1623C>T c.(1621-1623)taC>taT p.Y541Y NM_173821.2 NP_776182.2 Q14D33 CB085_HUMAN CXXC finger protein 11 541 integral to membrane CCGAGCCCTACGAGGACTTCT 0.667000 5 199 0 0 1 0 0 PCDHB14 56122 broad.mit.edu 37 5 140605021 140605021 + Silent SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr5:140605021C>T ENST00000239449.4 + 1 1944 c.1944C>T c.(1942-1944)ggC>ggT p.G648G PCDHB14_ENST00000515856.2_Silent_p.G495G NM_018934.2 NP_061757.1 Q9Y5E9 PCDBE_HUMAN 648 Cadherin 6. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1) 49 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AGGACAATGGCGAGCCTCCTC 0.726000 11 54 0 0 1 0 0 IGSF9B 22997 broad.mit.edu 37 11 133789806 133789806 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:133789806C>T ENST00000321016.8 - 18 4044 c.3814G>A c.(3814-3816)Gcc>Acc p.A1272T IGSF9B_ENST00000533871.2_Missense_Mutation_p.A1272T Q9UPX0 TUTLB_HUMAN immunoglobulin superfamily, member 9B 1272 Pro-rich. integral to membrane|plasma membrane breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 all_hematologic(175;0.127) all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221) AAGCCCATGGCGGGCCGGTAG 0.692000 3 53 0 0 1 0 0 ACTN2 88 broad.mit.edu 37 1 236850097 236850097 + Missense_Mutation SNP A A G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:236850097A>G ENST00000366578.4 + 1 290 c.124A>G c.(124-126)Aag>Gag p.K42E ACTN2_ENST00000542672.1_Missense_Mutation_p.K42E|ACTN2_ENST00000492634.1_3'UTR NM_001103.2|NM_001278343.1 NP_001094.1|NP_001265272.1 P35609 ACTN2_HUMAN actinin, alpha 2 42 Actin-binding.|CH 1. focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3) 86 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174) OV - Ovarian serous cystadenocarcinoma(106;0.00168) GCAGCAGAGGAAGGTCAGCAg 0.716000 6 20 0 0 1 0 0 NRXN1 9378 broad.mit.edu 37 2 51255066 51255066 + Missense_Mutation SNP T T G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr2:51255066T>G ENST00000404971.1 - 2 1685 c.346A>C c.(346-348)Agc>Cgc p.S116R NRXN1_ENST00000402717.3_Missense_Mutation_p.S116R|NRXN1_ENST00000405581.1_Missense_Mutation_p.S116R|NRXN1_ENST00000406316.2_Missense_Mutation_p.S116R|NRXN1_ENST00000405472.3_Missense_Mutation_p.S116R|NRXN1_ENST00000401669.2_Missense_Mutation_p.S116R|NRXN1_ENST00000406859.3_Missense_Mutation_p.S116R NM_001135659.1 NP_001129131.1 Q9ULB1 NRX1A_HUMAN neurexin 1 116 Laminin G-like 1. adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition cell surface|integral to plasma membrane metal ion binding|protein binding|receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 58 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) ATGCGCACGCTGTGCCAGGCG 0.667000 8 46 0 0 1 0 0 ATP8B2 57198 broad.mit.edu 37 1 154303373 154303373 + Missense_Mutation SNP A A T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:154303373A>T ENST00000368489.3 + 4 272 c.272A>T c.(271-273)aAc>aTc p.N91I ATP8B2_ENST00000426445.1_3'UTR|ATP8B2_ENST00000341822.2_Missense_Mutation_p.N77I|ATP8B2_ENST00000368487.3_Missense_Mutation_p.N58I NM_020452.3 NP_065185.1 P98198 AT8B2_HUMAN ATPase, aminophospholipid transporter, class I, type 8B, member 2 77 ATP biosynthetic process plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity IL6R/ATP8B2(2) breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 51 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) GAAGTTGCCAACACTTACTTC 0.458000 14 52 0 0 1 0 0 ZPBP 11055 broad.mit.edu 37 7 50121398 50121398 + Nonsense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr7:50121398C>T ENST00000046087.2 - 3 375 c.306G>A c.(304-306)tgG>tgA p.W102* ZPBP_ENST00000419417.1_Nonsense_Mutation_p.W102* NM_001159878.1|NM_007009.2 NP_001153350.1|NP_008940.2 Q9BS86 ZPBP1_HUMAN zona pellucida binding protein 102 binding of sperm to zona pellucida extracellular region NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3) 29 Glioma(55;0.08)|all_neural(89;0.245) TAGGCCCATACCATTGGAATG 0.368000 4 33 0 0 1 0 0 OTOGL 283310 broad.mit.edu 37 12 80746082 80746082 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr12:80746082C>T ENST00000458043.2 + 44 5252 c.5246C>T c.(5245-5247)cCg>cTg p.P1749L OTOGL_ENST00000547103.1_Missense_Mutation_p.P1737L NM_173591.3 NP_775862.3 otogelin-like breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1) 23 TAGGTTTCACCGGAAGACTTT 0.343000 7 17 0 0 1 0 0 GPR112 139378 broad.mit.edu 37 X 135432217 135432217 + Missense_Mutation SNP A A T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chrX:135432217A>T ENST00000394143.1 + 6 6643 c.6352A>T c.(6352-6354)Agg>Tgg p.R2118W GPR112_ENST00000287534.4_Missense_Mutation_p.R2055W|GPR112_ENST00000370652.1_Missense_Mutation_p.R2118W|GPR112_ENST00000394141.1_Missense_Mutation_p.R1913W|GPR112_ENST00000412101.1_Missense_Mutation_p.R1913W NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 2118 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) TGCCAACCCCAGGACTGTGTC 0.478000 24 58 0 0 1 0 0 LIPC 3990 broad.mit.edu 37 15 58834827 58834827 + Missense_Mutation SNP C C T rs138967170 TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr15:58834827C>T ENST00000414170.3 + 5 838 c.551C>T c.(550-552)aCg>aTg p.T184M LIPC_ENST00000299022.5_Missense_Mutation_p.T184M|LIPC_ENST00000433326.2_Missense_Mutation_p.T123M|LIPC_ENST00000356113.6_Missense_Mutation_p.T184M P11150 LIPC_HUMAN lipase, hepatic 184 Heparin-binding (Potential). cholesterol homeostasis|chylomicron remnant clearance|fatty acid biosynthetic process|high-density lipoprotein particle remodeling|intermediate-density lipoprotein particle remodeling|low-density lipoprotein particle remodeling|phosphatidylcholine catabolic process|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling high-density lipoprotein particle apolipoprotein binding|heparin binding|low-density lipoprotein particle binding|phospholipase activity|triglyceride lipase activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Colorectal(260;0.215) GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548) ATCGGTGGAACGCACAAGATT 0.512000 37 78 0 0 1 0 0 AHNAK2 113146 broad.mit.edu 37 14 105411764 105411764 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr14:105411764C>T ENST00000333244.5 - 7 10143 c.10024G>A c.(10024-10026)Gtg>Atg p.V3342M AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 3342 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) GGGAGGCTCACGTCGGCCTCC 0.622000 5 335 0 0 1 0 0 LEPRE1 64175 broad.mit.edu 37 1 43220835 43220835 + Splice_Site SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:43220835C>A ENST00000236040.4 - 7 1264 c.e7+1 LEPRE1_ENST00000397054.3_Splice_Site|LEPRE1_ENST00000296388.5_Splice_Site NM_001243246.1 NP_001230175.1 Q32P28 P3H1_HUMAN leucine proline-enriched proteoglycan (leprecan) 1 negative regulation of cell proliferation endoplasmic reticulum|proteinaceous extracellular matrix iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity large_intestine(2)|lung(15)|ovary(5)|prostate(1)|urinary_tract(3) 26 Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126) AAGGTCCTCACTTCTGTTTCT 0.463000 13 41 7.93312e-07 9.17689e-07 1 1 0 ACTN2 88 broad.mit.edu 37 1 236902635 236902635 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:236902635C>A ENST00000366578.4 + 10 1076 c.910C>A c.(910-912)Ctg>Atg p.L304M ACTN2_ENST00000542672.1_Missense_Mutation_p.L304M|ACTN2_ENST00000492634.1_3'UTR|ACTN2_ENST00000546208.1_Intron NM_001103.2|NM_001278343.1 NP_001094.1|NP_001265272.1 P35609 ACTN2_HUMAN actinin, alpha 2 304 focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3) 86 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174) OV - Ovarian serous cystadenocarcinoma(106;0.00168) GATCCCCTGGCTGGAGAACCG 0.542000 32 173 6.05902e-23 9.15177e-23 1 1 0 PDCD11 22984 broad.mit.edu 37 10 105200102 105200102 + Missense_Mutation SNP A A C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr10:105200102A>C ENST00000369797.3 + 29 4298 c.4204A>C c.(4204-4206)Aag>Cag p.K1402Q NM_014976.1 NP_055791.1 Q14690 RRP5_HUMAN programmed cell death 11 1402 mRNA processing|rRNA processing nucleolus RNA binding|transcription factor binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 64 Colorectal(252;0.0747)|Breast(234;0.128) Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208) AGACACTGGGAAGCCAGACGT 0.483000 33 104 0 0 1 0 0 TESPA1 9840 broad.mit.edu 37 12 55356389 55356389 + Missense_Mutation SNP G G C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr12:55356389G>C ENST00000524622.1 - 7 1540 c.879C>G c.(877-879)ttC>ttG p.F293L TESPA1_ENST00000449076.1_Missense_Mutation_p.F431L|TESPA1_ENST00000532804.1_Missense_Mutation_p.F293L|TESPA1_ENST00000531122.1_Missense_Mutation_p.F293L|TESPA1_ENST00000316577.8_Missense_Mutation_p.F431L NM_001261844.1|NM_014796.2 NP_001248773.1|NP_055611.1 A2RU30 K0748_HUMAN thymocyte expressed, positive selection associated 1 431 TTCTTTTCCAGAAAGTCTCAT 0.498000 47 129 0 0 1 0 0 FLNC 2318 broad.mit.edu 37 7 128484762 128484762 + Silent SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr7:128484762G>A ENST00000325888.8 + 21 3504 c.3243G>A c.(3241-3243)gcG>gcA p.A1081A FLNC_ENST00000346177.6_Silent_p.A1081A NM_001458.4 NP_001449.3 Q14315 FLNC_HUMAN filamin C, gamma 1081 cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 128 GCACCCCCGCGCCATTCTCCA 0.647000 11 54 0 0 1 0 0 PHACTR1 221692 broad.mit.edu 37 6 12933902 12933902 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr6:12933902G>A ENST00000379348.2 + 4 465 c.288G>A c.(286-288)atG>atA p.M96I PHACTR1_ENST00000332995.7_Intron|PHACTR1_ENST00000379350.1_Intron Q9C0D0 PHAR1_HUMAN phosphatase and actin regulator 1 0 cell junction|cytoplasm|synapse actin binding|protein phosphatase inhibitor activity breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3) 26 Breast(50;0.0427)|Ovarian(93;0.12) all_hematologic(90;0.122)|Lung SC(78;0.195) Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239) AAGCAAGAATGGGACCAGCAG 0.498000 13 115 0 0 1 0 0 TMEM8B 51754 broad.mit.edu 37 9 35853796 35853796 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr9:35853796G>T ENST00000377988.2 + 13 2666 c.1378G>T c.(1378-1380)Ggc>Tgc p.G460C TMEM8B_ENST00000377991.4_Missense_Mutation_p.G460C NM_001042590.2 NP_001036055.1 A6NDV4 TMM8B_HUMAN transmembrane protein 8B 460 cell-matrix adhesion|regulation of growth|regulation of mitotic cell cycle cell surface|endoplasmic reticulum|integral to membrane|mitochondrion|nucleus|plasma membrane protein binding breast(1)|endometrium(2)|large_intestine(2)|lung(1)|ovary(1) 7 GGGCCTCGTGGGCCCAGGAGG 0.642000 22 61 1.1804e-14 1.62431e-14 1 1 0 TMEM181 57583 broad.mit.edu 37 6 158957859 158957859 + Silent SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr6:158957859G>A ENST00000367090.3 + 1 392 c.381G>A c.(379-381)aaG>aaA p.K127K NM_020823.1 NP_065874.1 Q9P2C4 TM181_HUMAN transmembrane protein 181 127 pathogenesis integral to membrane toxin binding central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1) 22 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;8.15e-18)|BRCA - Breast invasive adenocarcinoma(81;1.38e-05) GCGAGCTCAAGGAGGACCTCA 0.726000 11 22 0 0 1 0 0 UGT2B15 7366 broad.mit.edu 37 4 69536127 69536127 + Silent SNP A A T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr4:69536127A>T ENST00000338206.5 - 1 219 c.210T>A c.(208-210)tcT>tcA p.S70S NM_001076.3 NP_001067.2 P54855 UDB15_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B15 70 steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity ATTTAATAGCAGATGATTTAC 0.343000 66 140 0 0 1 0 0 SI 6476 broad.mit.edu 37 3 164777734 164777734 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr3:164777734C>A ENST00000264382.3 - 10 1164 c.1102G>T c.(1102-1104)Gtg>Ttg p.V368L NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 368 Isomaltase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) ACTTCTTTCACTACATCTAGT 0.383000 HNSCC(35;0.089) 56 166 3.37043e-27 5.20652e-27 1 1 0 CLIP2 7461 broad.mit.edu 37 7 73790270 73790270 + Silent SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr7:73790270C>A ENST00000223398.6 + 10 1866 c.1539C>A c.(1537-1539)acC>acA p.T513T CLIP2_ENST00000361545.5_Silent_p.T478T|CLIP2_ENST00000395060.1_Silent_p.T513T NM_003388.4 NP_003379.3 Q9UDT6 CLIP2_HUMAN CAP-GLY domain containing linker protein 2 513 microtubule associated complex breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3) 30 AGGAGCTCACCCTGCGCCGAG 0.682000 3 7 0.115264 0.116511 1 1 0 POLR1A 25885 broad.mit.edu 37 2 86325826 86325826 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr2:86325826G>A ENST00000263857.6 - 3 718 c.340C>T c.(340-342)Cgg>Tgg p.R114W POLR1A_ENST00000409681.1_Missense_Mutation_p.R114W O95602 RPA1_HUMAN polymerase (RNA) I polypeptide A, 194kDa 114 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter DNA-directed RNA polymerase I complex|nucleoplasm DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 63 ATCACGGCCCGGGGACAAGTC 0.507000 23 210 0 0 1 0 0 NAGLU 4669 broad.mit.edu 37 17 40690460 40690460 + Missense_Mutation SNP G G C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr17:40690460G>C ENST00000225927.2 + 3 736 c.635G>C c.(634-636)gGc>gCc p.G212A RP11-400F19.8_ENST00000585572.1_RNA NM_000263.3 NP_000254.2 P54802 ANAG_HUMAN N-acetylglucosaminidase, alpha 212 lysosome alpha-N-acetylglucosaminidase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|ovary(2)|skin(1) 12 all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344) BRCA - Breast invasive adenocarcinoma(366;0.13) N-Acetyl-D-glucosamine(DB00141) ACCTGGGATGGCCCCCTGCCC 0.592000 24 116 0 0 1 0 0 USH1C 10083 broad.mit.edu 37 11 17552946 17552946 + Splice_Site SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:17552946C>T ENST00000005226.7 - 3 247 c.248_splice c.e3+1 p.R83_splice USH1C_ENST00000527720.1_Splice_Site_p.R52_splice|USH1C_ENST00000527020.1_Splice_Site_p.R83_splice|USH1C_ENST00000318024.4_Splice_Site_p.R83_splice NM_153676.3 NP_710142.1 Q9Y6N9 USH1C_HUMAN Usher syndrome 1C (autosomal recessive, severe) 83 equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound apical part of cell|cytoplasm|stereocilium protein binding central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 48 TCCTCTGCACCTGGAGCGCCG 0.627000 10 15 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152285472 152285472 + Silent SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:152285472G>A ENST00000368799.1 - 3 1925 c.1890C>T c.(1888-1890)caC>caT p.H630H FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 630 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity p.H630Q(1) autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) AGTCTTCTGAGTGTCCCTGAC 0.567000 Ichthyosis 10 337 0 0 1 0 0 OR10T2 128360 broad.mit.edu 37 1 158369201 158369201 + Missense_Mutation SNP G G C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:158369201G>C ENST00000334438.1 - 1 55 c.56C>G c.(55-57)tCc>tGc p.S19C NM_001004475.1 NP_001004475.1 Q8NGX3 O10T2_HUMAN olfactory receptor, family 10, subfamily T, member 2 19 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 all_hematologic(112;0.0378) CCCCAGGCTGGAGAAACCCAC 0.458000 6 35 0 0 1 0 0 RGS7 6000 broad.mit.edu 37 1 240979664 240979664 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:240979664G>T ENST00000366565.1 - 11 1117 c.736C>A c.(736-738)Ccc>Acc p.P246T RGS7_ENST00000407727.1_Missense_Mutation_p.P246T|RGS7_ENST00000366563.1_Missense_Mutation_p.P246T|RGS7_ENST00000366562.4_Missense_Mutation_p.P246T|RGS7_ENST00000366564.1_Missense_Mutation_p.P246T|RGS7_ENST00000446183.2_Missense_Mutation_p.P162T|RGS7_ENST00000348120.2_Missense_Mutation_p.P193T|RGS7_ENST00000331110.7_Missense_Mutation_p.P220T|RGS7_ENST00000401882.1_Missense_Mutation_p.P193T NM_002924.4 NP_002915.3 P49802 RGS7_HUMAN regulator of G-protein signaling 7 246 G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|protein binding|signal transducer activity breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 all_cancers(173;0.0131) OV - Ovarian serous cystadenocarcinoma(106;0.027) TCTGGTGTGGGTGTGTGGGTA 0.353000 37 168 5.2432e-18 7.54846e-18 1 1 0 PDGFRA 5156 broad.mit.edu 37 4 55152033 55152033 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr4:55152033G>T ENST00000257290.5 + 18 2796 c.2465G>T c.(2464-2466)cGc>cTc p.R822L FIP1L1_ENST00000507166.1_Missense_Mutation_p.R582L NM_006206.4 NP_006197.1 P16234 PGFRA_HUMAN platelet-derived growth factor receptor, alpha polypeptide 822 Protein kinase. cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1) 967 all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08) GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256) Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268) CTGGCTGCTCGCAACGTCCTC 0.493000 """Mis, O, T""" FIP1L1 """GIST, idiopathic hypereosinophilic syndrome, paediatric GBM""" Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis TSP Lung(21;0.16) 40 85 9.84934e-19 1.42898e-18 1 1 0 AASDH 132949 broad.mit.edu 37 4 57204735 57204735 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr4:57204735C>T ENST00000205214.6 - 15 3310 c.3130G>A c.(3130-3132)Gat>Aat p.D1044N AASDH_ENST00000451613.1_3'UTR|AASDH_ENST00000434343.2_Missense_Mutation_p.D559N|AASDH_ENST00000513376.1_Missense_Mutation_p.D944N NM_181806.2 NP_861522.2 Q4L235 ACSF4_HUMAN aminoadipate-semialdehyde dehydrogenase 1044 fatty acid metabolic process acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1) 40 Glioma(25;0.08)|all_neural(26;0.101) all_hematologic(202;0.0017) ACTTTCCCATCAGTAGATGCT 0.433000 24 45 0 0 1 0 0 CEP164 22897 broad.mit.edu 37 11 117242024 117242024 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:117242024G>A ENST00000278935.3 + 9 1141 c.994G>A c.(994-996)Gca>Aca p.A332T CEP164_ENST00000533706.1_3'UTR NM_014956.4 NP_055771.4 Q9UPV0 CE164_HUMAN centrosomal protein 164kDa 332 cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis centriole|cytosol|nucleus breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3) 47 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008) GACCCCCAAGGCAGACCCTAC 0.537000 15 212 0 0 1 0 0 COL22A1 169044 broad.mit.edu 37 8 139611104 139611104 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr8:139611104C>A ENST00000303045.6 - 61 4669 c.4223G>T c.(4222-4224)gGt>gTt p.G1408V COL22A1_ENST00000435777.1_Missense_Mutation_p.G1388V|COL22A1_ENST00000341807.4_5'UTR NM_152888.1 NP_690848.1 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 1408 Collagen-like 14.|Gly-rich.|Pro-rich. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) GCCTTTTCCACCAGGAGGTCC 0.572000 HNSCC(7;0.00092) 6 39 0.248553 0.249554 1 1 0 CHRM3 1131 broad.mit.edu 37 1 240071054 240071054 + Silent SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:240071054G>T ENST00000255380.4 + 5 1082 c.303G>T c.(301-303)acG>acT p.T101T NM_000740.2 NP_000731.1 P20309 ACM3_HUMAN cholinergic receptor, muscarinic 3 101 cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1) 51 Ovarian(103;0.127) all_cancers(173;0.00567)|all_neural(198;0.203) OV - Ovarian serous cystadenocarcinoma(106;0.00989) Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505) AGCTGAAGACGGTCAACAACT 0.468000 15 52 1.52009e-12 2.00209e-12 1 1 0 MID1 4281 broad.mit.edu 37 X 10417702 10417702 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chrX:10417702C>A ENST00000317552.4 - 10 2110 c.1710G>T c.(1708-1710)aaG>aaT p.K570N MID1_ENST00000380779.1_Missense_Mutation_p.K570N|MID1_ENST00000453318.2_Missense_Mutation_p.K570N|MID1_ENST00000380785.1_Missense_Mutation_p.K570N|MID1_ENST00000479925.1_5'UTR|MID1_ENST00000380787.1_Missense_Mutation_p.K570N|MID1_ENST00000380782.2_Intron|MID1_ENST00000380780.1_Missense_Mutation_p.K570N NM_000381.3|NM_033289.1 NP_000372.1|NP_150631.1 O15344 TRI18_HUMAN midline 1 (Opitz/BBB syndrome) 570 B30.2/SPRY. microtubule cytoskeleton organization|pattern specification process|positive regulation of stress-activated MAPK cascade cytoplasm|microtubule|microtubule associated complex|spindle ligase activity|ubiquitin protein ligase binding|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 26 AAGCAGAGTTCTTCCCAATCC 0.522000 9 33 5.4927e-09 6.65953e-09 1 1 0 DDX54 79039 broad.mit.edu 37 12 113612894 113612894 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr12:113612894G>A ENST00000314045.7 - 8 848 c.821C>T c.(820-822)aCg>aTg p.T274M DDX54_ENST00000306014.5_Missense_Mutation_p.T274M NM_001111322.1 NP_001104792.1 Q8TDD1 DDX54_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 54 274 Helicase ATP-binding. estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent nucleolus ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 31 GAACAGCACCGTCTGGTGGCC 0.657000 OREG0022139 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 75 0 0 1 0 0 OR4Q3 441669 broad.mit.edu 37 14 20216172 20216172 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr14:20216172G>T ENST00000331723.1 + 1 586 c.586G>T c.(586-588)Gta>Tta p.V196L NM_172194.1 NP_751944.1 Q8NH05 OR4Q3_HUMAN olfactory receptor, family 4, subfamily Q, member 3 196 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2) 47 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) CACCTATGTGGTAGAGGTGCT 0.488000 13 57 0.00136819 0.0014374 1 1 0 MAGED2 10916 broad.mit.edu 37 X 54839587 54839587 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chrX:54839587G>T ENST00000375068.1 + 9 1435 c.1202G>T c.(1201-1203)cGc>cTc p.R401L MAGED2_ENST00000347546.3_Missense_Mutation_p.R345L|MAGED2_ENST00000218439.4_Missense_Mutation_p.R401L|MAGED2_ENST00000375053.2_Missense_Mutation_p.R401L|MAGED2_ENST00000375058.1_Missense_Mutation_p.R401L|MAGED2_ENST00000396224.1_Missense_Mutation_p.R401L|MAGED2_ENST00000343474.6_Missense_Mutation_p.R383L|MAGED2_ENST00000375062.4_Missense_Mutation_p.R316L|MAGED2_ENST00000375060.1_Missense_Mutation_p.R316L Q9UNF1 MAGD2_HUMAN melanoma antigen family D, 2 401 MAGE. p.R401H(1) breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 26 TTGGGGCTGCGCCCTGGGTAT 0.572000 31 110 1.62565e-12 2.1361e-12 1 1 0 GPR128 84873 broad.mit.edu 37 3 100364805 100364805 + Silent SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr3:100364805C>T ENST00000273352.3 + 9 1231 c.963C>T c.(961-963)tgC>tgT p.C321C GPR128_ENST00000475887.1_Silent_p.C26C NM_032787.2 NP_116176.2 Q96K78 GP128_HUMAN G protein-coupled receptor 128 321 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 56 CCAAGACATGCGGCTTTGTAG 0.308000 7 38 0 0 1 0 0 HAVCR2 84868 broad.mit.edu 37 5 156514118 156514118 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr5:156514118G>T ENST00000307851.4 - 7 1631 c.901C>A c.(901-903)Cca>Aca p.P301T HAVCR2_ENST00000522593.1_Missense_Mutation_p.P273T NM_032782.4 NP_116171.3 Q8TDQ0 HAVR2_HUMAN hepatitis A virus cellular receptor 2 301 integral to membrane cervix(1)|large_intestine(4)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 22 Renal(175;0.00212) Medulloblastoma(196;0.0354)|all_neural(177;0.0999) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TGGATCTATGGCATTGCAAAG 0.448000 13 13 2.32078e-09 2.86018e-09 1 1 0 PLEKHA6 22874 broad.mit.edu 37 1 204226816 204226816 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:204226816G>A ENST00000272203.3 - 9 1505 c.1189C>T c.(1189-1191)Cgc>Tgc p.R397C PLEKHA6_ENST00000414478.1_Missense_Mutation_p.R417C NM_014935.4 NP_055750.2 Q9Y2H5 PKHA6_HUMAN pleckstrin homology domain containing, family A member 6 397 breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 all_cancers(21;0.0222)|Breast(84;0.179) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229) CCCCCATTGCGGAAGGCATGG 0.682000 8 15 0 0 1 0 0 MYH4 4622 broad.mit.edu 37 17 10348411 10348411 + Missense_Mutation SNP A A T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr17:10348411A>T ENST00000255381.2 - 37 5458 c.5348T>A c.(5347-5349)cTg>cAg p.L1783Q CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 1783 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 CATCCGCTCCAGGTGGGCGCT 0.512000 53 127 0 0 1 0 0 CSF2RB 1439 broad.mit.edu 37 22 37333555 37333555 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr22:37333555C>A ENST00000262825.5 + 14 1940 c.1723C>A c.(1723-1725)Ccc>Acc p.P575T CSF2RB_ENST00000406230.1_Missense_Mutation_p.P575T|CSF2RB_ENST00000403662.3_Missense_Mutation_p.P569T|CSF2RB_ENST00000536485.1_Missense_Mutation_p.P516T NM_000395.2 NP_000386.1 P32927 IL3RB_HUMAN colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) 569 respiratory gaseous exchange granulocyte macrophage colony-stimulating factor receptor complex cytokine receptor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2) 42 Sargramostim(DB00020) GCCCCCCAGCCCCCAGCCAGG 0.642000 25 33 4.87955e-14 6.6212e-14 1 1 0 CRB1 23418 broad.mit.edu 37 1 197396875 197396875 + Missense_Mutation SNP T T C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:197396875T>C ENST00000367397.1 + 3 1421 c.563T>C c.(562-564)cTg>cCg p.L188P CRB1_ENST00000367400.3_Missense_Mutation_p.L807P|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000544212.1_Missense_Mutation_p.L288P|CRB1_ENST00000367399.2_Missense_Mutation_p.L695P|CRB1_ENST00000535699.1_Missense_Mutation_p.L738P P82279 CRUM1_HUMAN crumbs homolog 1 (Drosophila) 807 EGF-like 5; calcium-binding (Potential). cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 132 AAAATTGAACTGTATCAGTCT 0.363000 15 53 0 0 1 0 0 KCNA10 3744 broad.mit.edu 37 1 111060310 111060310 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:111060310G>T ENST00000369771.2 - 1 1487 c.1100C>A c.(1099-1101)aCa>aAa p.T367K NM_005549.2 NP_005540.1 Q16322 KCA10_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 10 367 voltage-gated potassium channel complex intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1) 35 all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301) Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134) CGCCTTCAGTGTTTGCCCGAG 0.557000 29 78 1.26454e-06 1.45829e-06 1 1 0 FAM71B 153745 broad.mit.edu 37 5 156589499 156589499 + Missense_Mutation SNP C C G rs148633922 TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr5:156589499C>G ENST00000302938.4 - 2 1872 c.1777G>C c.(1777-1779)Gag>Cag p.E593Q NM_130899.2 NP_570969.2 Q8TC56 FA71B_HUMAN family with sequence similarity 71, member B 593 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) TCCGTCTTCTCGGATGTCATA 0.517000 82 106 0 0 1 0 0 RPLP2 6181 broad.mit.edu 37 11 811600 811600 + Missense_Mutation SNP A A T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:811600A>T ENST00000321153.4 + 3 521 c.127A>T c.(127-129)Atc>Ttc p.I43F RPLP2_ENST00000530797.1_Missense_Mutation_p.I43F|RPLP2_ENST00000532004.1_3'UTR NM_001004.3 NP_000995.1 P05387 RLA2_HUMAN ribosomal protein, large, P2 43 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit RNA binding|structural constituent of ribosome lung(1) 1 all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198) all cancers(45;1.45e-25)|Epithelial(43;1.17e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.76e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) GCTTCAGGTTATCAGTGAGCT 0.512000 17 49 0 0 1 0 0 KRTAP10-12 386685 broad.mit.edu 37 21 46117155 46117155 + Silent SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr21:46117155C>T ENST00000400365.3 + 1 69 c.39C>T c.(37-39)cgC>cgT p.R13R TSPEAR_ENST00000323084.4_Intron NM_198699.1 NP_941972.1 P60413 KR10C_HUMAN keratin associated protein 10-12 13 keratin filament large_intestine(1)|lung(8) 9 ATGGCAGCCGCGTCTGCCTTC 0.662000 36 94 0 0 1 0 0 CLIP2 7461 broad.mit.edu 37 7 73731996 73731996 + Splice_Site SNP A A T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr7:73731996A>T ENST00000223398.6 + 2 447 c.121_splice c.e2+1 p.E40_splice CLIP2_ENST00000361545.5_Splice_Site_p.E40_splice|CLIP2_ENST00000395060.1_Splice_Site_p.E40_splice NM_003388.4 NP_003379.3 Q9UDT6 CLIP2_HUMAN CAP-GLY domain containing linker protein 2 40 microtubule associated complex breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3) 30 GCTCCAAGGAAGGTACGTGGC 0.637000 91 96 0 0 1 0 0 COL14A1 7373 broad.mit.edu 37 8 121344423 121344423 + Missense_Mutation SNP C C G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr8:121344423C>G ENST00000297848.3 + 41 4973 c.4703C>G c.(4702-4704)cCa>cGa p.P1568R COL14A1_ENST00000309791.4_Missense_Mutation_p.P1568R|COL14A1_ENST00000247781.3_Missense_Mutation_p.P1473R NM_021110.1 NP_066933.1 Q05707 COEA1_HUMAN collagen, type XIV, alpha 1 1568 Triple-helical region 1 (COL2). cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 119 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) CCAGGACCACCAGGGCCAATA 0.458000 16 38 0 0 1 0 0 HECW2 57520 broad.mit.edu 37 2 197171285 197171285 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr2:197171285G>A ENST00000260983.2 - 13 2923 c.2741C>T c.(2740-2742)aCg>aTg p.T914M HECW2_ENST00000409111.1_Missense_Mutation_p.T558M NM_020760.1 NP_065811.1 Q9P2P5 HECW2_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 914 Interaction with TP73. protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm ubiquitin-protein ligase activity biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 113 TAACAGCAACGTGATCCTGGA 0.517000 17 62 0 0 1 0 0 FOXO4 4303 broad.mit.edu 37 X 70320966 70320966 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chrX:70320966G>T ENST00000374259.3 + 2 1218 c.886G>T c.(886-888)Gtc>Ttc p.V296F FOXO4_ENST00000341558.3_Missense_Mutation_p.V241F NM_001170931.1|NM_005938.3 NP_001164402.1|NP_005929.2 P98177 FOXO4_HUMAN forkhead box O4 296 cell cycle arrest|cell differentiation|embryo development|G1 phase of mitotic cell cycle|insulin receptor signaling pathway|mitotic cell cycle G2/M transition DNA damage checkpoint|muscle organ development|negative regulation of angiogenesis|negative regulation of cell proliferation|negative regulation of smooth muscle cell differentiation|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|tissue development cytosol|transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1) 18 Renal(35;0.156) TGCAGGGGGTGTCCCTCCCAC 0.557000 OREG0019856 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 18 19 1.56452e-12 2.05941e-12 1 1 0 BRAF 673 broad.mit.edu 37 7 140549912 140549912 + Splice_Site SNP T T C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr7:140549912T>C ENST00000288602.6 - 2 299 c.240_splice c.e2+1 p.E80_splice NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 80 activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) AAAGCTTACCTCCAGATATAT 0.323000 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 15 114 0 0 1 0 0 CCR1 1230 broad.mit.edu 37 3 46245366 46245366 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr3:46245366C>T ENST00000296140.3 - 2 564 c.439G>A c.(439-441)Gtc>Atc p.V147I CCR3_ENST00000357422.2_Intron NM_001295.2 NP_001286.1 P32246 CCR1_HUMAN chemokine (C-C motif) receptor 1 147 cell adhesion|cell-cell signaling|cytokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response integral to plasma membrane C-C chemokine receptor activity autonomic_ganglia(1)|large_intestine(6)|lung(6)|pancreas(1)|skin(3) 17 BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203) CCAAAAGTGACGGTCCGTGCC 0.517000 7 37 0 0 1 0 0 TOX3 27324 broad.mit.edu 37 16 52480024 52480024 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr16:52480024G>A ENST00000219746.9 - 5 1072 c.788C>T c.(787-789)gCc>gTc p.A263V TOX3_ENST00000407228.3_Missense_Mutation_p.A258V NM_001080430.2 NP_001073899.2 O15405 TOX3_HUMAN TOX high mobility group box family member 3 263 apoptosis|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus chromatin binding|estrogen response element binding|phosphoprotein binding|protein homodimerization activity NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1) 24 GAAAAACAGGGCATATGCTGA 0.453000 9 37 0 0 1 0 0 ACAN 176 broad.mit.edu 37 15 89383359 89383359 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr15:89383359G>A ENST00000439576.2 + 4 945 c.571G>A c.(571-573)Gcc>Acc p.A191T ACAN_ENST00000352105.7_Missense_Mutation_p.A191T|ACAN_ENST00000559004.1_Missense_Mutation_p.A191T|ACAN_ENST00000561243.1_Missense_Mutation_p.A191T|ACAN_ENST00000558207.1_Missense_Mutation_p.A191T NM_013227.3 NP_037359.3 E7EX88 E7EX88_HUMAN aggrecan 191 cell adhesion hyaluronic acid binding|sugar binding NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) GCTGCAGGCCGCCTACGAAGA 0.637000 4 16 0 0 1 0 0 PLCL1 5334 broad.mit.edu 37 2 198950568 198950568 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr2:198950568C>A ENST00000428675.1 + 2 2725 c.2327C>A c.(2326-2328)cCt>cAt p.P776H PLCL1_ENST00000437704.2_Missense_Mutation_p.P678H NM_006226.3 NP_006217.3 Q15111 PLCL1_HUMAN phospholipase C-like 1 776 C2. intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Quinacrine(DB01103) AGTGATAATCCTATTTTTGAT 0.393000 28 87 1.06801e-11 1.38712e-11 1 1 0 TADA1 117143 broad.mit.edu 37 1 166833074 166833074 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:166833074C>T ENST00000367874.4 - 4 410 c.317G>A c.(316-318)cGt>cAt p.R106H NM_053053.3 NP_444281.1 Q96BN2 TADA1_HUMAN transcriptional adaptor 1 106 histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent STAGA complex transcription coactivator activity endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1) 11 AAATTTCTGACGAACAGAAGA 0.393000 7 71 0 0 1 0 0 SLC6A16 28968 broad.mit.edu 37 19 49814298 49814298 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:49814298G>T ENST00000454748.3 - 2 508 c.307C>A c.(307-309)Cgt>Agt p.R103S SLC6A16_ENST00000335875.4_Missense_Mutation_p.R103S Q9GZN6 S6A16_HUMAN solute carrier family 6, member 16 103 integral to membrane|intracellular neurotransmitter:sodium symporter activity NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336) CAGAACGGACGGGCAAGGAGG 0.517000 18 46 6.49762e-13 8.58313e-13 1 1 0 RASSF2 9770 broad.mit.edu 37 20 4771182 4771182 + Missense_Mutation SNP C C T rs145831009 byFrequency TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr20:4771182C>T ENST00000379400.3 - 7 647 c.452G>A c.(451-453)cGc>cAc p.R151H RASSF2_ENST00000379376.2_Missense_Mutation_p.R151H|RASSF2_ENST00000478553.1_5'UTR NM_014737.2 NP_055552.1 P50749 RASF2_HUMAN Ras association (RalGDS/AF-6) domain family member 2 151 cell cycle|signal transduction nucleus protein binding endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2) 34 ATTGCCACGGCGACGCACCCC 0.592000 3 19 0 0 1 0 0 GMPR 2766 broad.mit.edu 37 6 16279043 16279043 + Silent SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr6:16279043G>A ENST00000259727.4 + 6 690 c.576G>A c.(574-576)acG>acA p.T192T NM_006877.3 NP_006868.3 P36959 GMPR1_HUMAN guanosine monophosphate reductase 192 nucleotide metabolic process|purine base metabolic process|purine-containing compound salvage|response to cold cytosol GMP reductase activity|metal ion binding NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1) 20 Breast(50;0.0427)|Ovarian(93;0.103) all_hematologic(90;0.0895) GCACCAAGACGGGAGTGGGGT 0.562000 10 58 0 0 1 0 0 C1orf50 79078 broad.mit.edu 37 1 43233248 43233248 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:43233248G>A ENST00000372525.5 + 2 191 c.148G>A c.(148-150)Gcc>Acc p.A50T C1orf50_ENST00000536543.1_5'UTR NM_024097.3 NP_077002.2 Q9BV19 CA050_HUMAN chromosome 1 open reading frame 50 50 large_intestine(2)|ovary(1)|pancreas(1) 4 Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) CACCCACCGGGCCGGGGACCC 0.677000 11 20 0 0 1 0 0 GML 2765 broad.mit.edu 37 8 143928001 143928001 + Silent SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr8:143928001C>A ENST00000220940.1 + 4 462 c.372C>A c.(370-372)ccC>ccA p.P124P NM_002066.2 NP_002057.1 Q99445 GML_HUMAN glycosylphosphatidylinositol anchored molecule like 124 UPAR/Ly6. apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|negative regulation of cell proliferation anchored to membrane|extrinsic to membrane|plasma membrane p.P124P(1) NS(1)|central_nervous_system(2)|endometrium(1)|large_intestine(6)|lung(8) 18 all_cancers(97;4.26e-11)|all_epithelial(106;1.85e-08)|Lung NSC(106;0.000274)|all_lung(105;0.000755)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) ACATGTTACCCGATGAAGTAA 0.418000 36 53 1.04594e-18 1.51553e-18 1 1 0 GHR 2690 broad.mit.edu 37 5 42711437 42711437 + Silent SNP A A C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr5:42711437A>C ENST00000230882.4 + 7 937 c.747A>C c.(745-747)gtA>gtC p.V249V GHR_ENST00000537449.1_Silent_p.V62V|GHR_ENST00000357703.3_Silent_p.V227V NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2 NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1 P10912 GHR_HUMAN growth hormone receptor 249 Fibronectin type-III. 2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 Myeloproliferative disorder(839;0.00878) Pegvisomant(DB00082)|Somatropin recombinant(DB00052) TGCTCTATGTAACACTTCCTC 0.368000 33 224 0 0 1 0 0 ACRBP 84519 broad.mit.edu 37 12 6756075 6756075 + Silent SNP C C G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr12:6756075C>G ENST00000229243.2 - 2 240 c.147G>C c.(145-147)ctG>ctC p.L49L ACRBP_ENST00000536350.1_Silent_p.L49L|ACRBP_ENST00000414226.2_Silent_p.L49L NM_032489.2 NP_115878.2 Q8NEB7 ACRBP_HUMAN acrosin binding protein 49 acrosomal vesicle|extracellular region NS(1)|breast(1)|central_nervous_system(1)|large_intestine(8)|lung(5)|ovary(1) 17 TTGGAGTCAGCAGTGCGAAGA 0.607000 20 57 0 0 1 0 0 ZDBF2 57683 broad.mit.edu 37 2 207176035 207176035 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr2:207176035G>T ENST00000374423.3 + 5 7169 c.6783G>T c.(6781-6783)aaG>aaT p.K2261N NM_020923.1 NP_065974.1 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 2261 nucleic acid binding|zinc ion binding endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 GGCTAAAGAAGGCGAAGAGAA 0.453000 4 14 2.56e-06 2.90591e-06 1 1 0 CRIPAK 285464 broad.mit.edu 37 4 1388916 1388916 + Missense_Mutation SNP G G T rs71299249 TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr4:1388916G>T ENST00000324803.4 + 1 3577 c.617G>T c.(616-618)gGa>gTa p.G206V NM_175918.3 NP_787114.2 Q8N1N5 CRPAK_HUMAN cysteine-rich PAK1 inhibitor 206 ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus endoplasmic reticulum|nucleus|plasma membrane protein binding NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1) 35 OV - Ovarian serous cystadenocarcinoma(23;0.0106) TGCCGATGTGGAGTGCCTGCC 0.662000 128 354 1.73943e-47 2.817e-47 1 1 0 ZNF487 642819 broad.mit.edu 37 10 43971253 43971253 + Missense_Mutation SNP A A G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr10:43971253A>G ENST00000431662.1 + 2 187 c.187A>G c.(187-189)Aga>Gga p.R63G ZNF487_ENST00000437590.2_5'UTR GACCCCGTACAGAGACATGAT 0.473000 7 26 0 0 1 0 0 ABCA10 10349 broad.mit.edu 37 17 67160237 67160237 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr17:67160237G>A ENST00000269081.4 - 28 4250 c.3341C>T c.(3340-3342)aCc>aTc p.T1114I ABCA10_ENST00000416101.2_3'UTR|ABCA10_ENST00000519732.1_5'UTR NM_080282.3 NP_525021.3 Q8WWZ4 ABCAA_HUMAN ATP-binding cassette, sub-family A (ABC1), member 10 1114 transport integral to membrane ATP binding|ATPase activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 81 Breast(10;6.95e-12) TAAAAGAATGGTTTTATTGAC 0.318000 4 40 0 0 1 0 0 FAM91A1 157769 broad.mit.edu 37 8 124810416 124810416 + Silent SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr8:124810416C>T ENST00000334705.7 + 16 1744 c.1498C>T c.(1498-1500)Ctg>Ttg p.L500L FAM91A1_ENST00000521166.1_Silent_p.L500L NM_144963.2 NP_659400.2 Q658Y4 F91A1_HUMAN family with sequence similarity 91, member A1 500 breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 28 Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00192) AAATTACACGCTGCTTGTTTC 0.478000 48 88 0 0 1 0 0 SLC35A4 113829 broad.mit.edu 37 5 139947246 139947246 + Silent SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr5:139947246C>T ENST00000514199.1 + 2 2178 c.492C>T c.(490-492)ccC>ccT p.P164P APBB3_ENST00000507279.1_Intron|SLC35A4_ENST00000323146.3_Silent_p.P164P Q96G79 S35A4_HUMAN solute carrier family 35, member A4 164 Leu-rich. Golgi membrane|integral to membrane sugar:hydrogen symporter activity endometrium(4)|kidney(2)|large_intestine(3)|lung(4) 13 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTCAAGTTCCCGGGAACACCC 0.652000 12 34 0 0 1 0 0 HIST3H3 8290 broad.mit.edu 37 1 228612632 228612632 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:228612632C>T ENST00000366696.1 - 1 394 c.395G>A c.(394-396)cGc>cAc p.R132H NM_003493.2 NP_003484.1 Q16695 H31T_HUMAN histone cluster 3, H3 132 nucleosome assembly|telomere maintenance nucleoplasm|nucleosome DNA binding|protein binding large_intestine(1)|lung(2)|prostate(2)|skin(1) 6 Prostate(94;0.0724) CCGCTCCCCGCGGATACGGCG 0.587000 9 87 0 0 1 0 0 ADAM33 80332 broad.mit.edu 37 20 3653452 3653452 + Silent SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr20:3653452C>T ENST00000356518.2 - 12 1468 c.1227G>A c.(1225-1227)ccG>ccA p.P409P ADAM33_ENST00000466620.1_5'UTR|ADAM33_ENST00000350009.2_Silent_p.P409P|ADAM33_ENST00000379861.4_Silent_p.P409P NM_025220.2 NP_079496.1 Q9BZ11 ADA33_HUMAN ADAM metallopeptidase domain 33 409 Peptidase M12B. proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3) 29 GTCCGGGGTCCGGGGCATTGG 0.731000 5 18 0 0 1 0 0 ZNF695 57116 broad.mit.edu 37 1 247151520 247151520 + Silent SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:247151520C>T ENST00000339986.7 - 4 444 c.297G>A c.(295-297)gaG>gaA p.E99E ZNF695_ENST00000487338.2_Silent_p.E99E|ZNF695_ENST00000498046.2_5'UTR NM_020394.4 NP_065127.4 Q8IW36 ZN695_HUMAN zinc finger protein 695 99 regulation of transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding endometrium(1)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1) 13 all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518) all_cancers(173;0.0266) OV - Ovarian serous cystadenocarcinoma(106;0.00271) GCAGGCCCTGCTCTGGCAAAA 0.358000 13 113 0 0 1 0 0 ADNP2 22850 broad.mit.edu 37 18 77895496 77895496 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr18:77895496G>A ENST00000262198.4 + 4 2655 c.2200G>A c.(2200-2202)Gcg>Acg p.A734T NM_014913.3 NP_055728.1 Q6IQ32 ADNP2_HUMAN ADNP homeobox 2 734 cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2) 42 all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2) Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164) AAAACTGGCAGCGTGTGCACC 0.498000 21 132 0 0 1 0 0 BEST1 7439 broad.mit.edu 37 11 61725666 61725666 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:61725666C>T ENST00000449131.2 + 6 669 c.583C>T c.(583-585)Cgg>Tgg p.R195W BEST1_ENST00000301774.9_Intron|BEST1_ENST00000534553.1_Intron|BEST1_ENST00000378043.4_Missense_Mutation_p.R255W|BEST1_ENST00000526988.1_Missense_Mutation_p.R149W|BEST1_ENST00000435278.2_Intron|BEST1_ENST00000378042.3_Missense_Mutation_p.R195W NM_001139443.1 NP_001132915.1 O76090 BEST1_HUMAN bestrophin 1 255 A -> V (in VMD2). response to stimulus|transepithelial chloride transport|visual perception basolateral plasma membrane|chloride channel complex|cytosol|membrane fraction chloride channel activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|urinary_tract(2) 25 TCTAGTTGGGCGGCAGTTTCT 0.567000 24 64 0 0 1 0 0 UBQLNL 143630 broad.mit.edu 37 11 5536688 5536688 + Silent SNP T T C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:5536688T>C ENST00000380184.1 - 1 1247 c.984A>G c.(982-984)gcA>gcG p.A328A HBG2_ENST00000380259.2_Intron NM_145053.4 NP_659490.4 Q8IYU4 UBQLN_HUMAN ubiquilin-like 328 endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 33 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136) TGACTCGGGTTGCAGGATGCT 0.507000 7 79 0 0 1 0 0 CRP 1401 broad.mit.edu 37 1 159683599 159683599 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:159683599C>T ENST00000255030.5 - 2 494 c.391G>A c.(391-393)Ggg>Agg p.G131R CRP_ENST00000437342.1_5'UTR|CRP_ENST00000343919.2_Intron|CRP_ENST00000368111.1_Intron|CRP_ENST00000368110.1_Intron|CRP_ENST00000368112.1_Intron NM_000567.2 NP_000558.2 P02741 CRP_HUMAN C-reactive protein, pentraxin-related 131 Pentaxin. acute-phase response|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|opsonization choline binding|Gram-positive bacterial cell surface binding|low-density lipoprotein particle binding|metal ion binding|protein binding p.G131W(1) breast(1)|endometrium(3)|kidney(1)|lung(15)|ovary(1)|skin(1) 22 all_hematologic(112;0.0429) Atorvastatin(DB01076)|Bezafibrate(DB01393) CTGGGCTTCCCATCTACCCAG 0.522000 287 200 0 0 1 0 0 CSF2RB 1439 broad.mit.edu 37 22 37334228 37334228 + Missense_Mutation SNP T T A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr22:37334228T>A ENST00000262825.5 + 14 2613 c.2396T>A c.(2395-2397)gTc>gAc p.V799D CSF2RB_ENST00000406230.1_Missense_Mutation_p.V799D|CSF2RB_ENST00000403662.3_Missense_Mutation_p.V793D|CSF2RB_ENST00000536485.1_Missense_Mutation_p.V740D NM_000395.2 NP_000386.1 P32927 IL3RB_HUMAN colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) 793 respiratory gaseous exchange granulocyte macrophage colony-stimulating factor receptor complex cytokine receptor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2) 42 Sargramostim(DB00020) AAAAGCCCTGTCCTGAACCCA 0.622000 28 109 0 0 1 0 0 ITPR3 3710 broad.mit.edu 37 6 33657961 33657961 + Missense_Mutation SNP T T C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr6:33657961T>C ENST00000374316.5 + 52 8078 c.7018T>C c.(7018-7020)Ttc>Ctc p.F2340L ITPR3_ENST00000605930.1_Missense_Mutation_p.F2340L Q14573 ITPR3_HUMAN inositol 1,4,5-trisphosphate receptor, type 3 2340 activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 TCATGAGCTGTTCTACAGCAT 0.592000 9 19 0 0 1 0 0 CNBD1 168975 broad.mit.edu 37 8 87899799 87899799 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr8:87899799G>T ENST00000518476.1 + 2 169 c.118G>T c.(118-120)Ggc>Tgc p.G40C NM_173538.2 NP_775809.1 Q8NA66 CNBD1_HUMAN cyclic nucleotide binding domain containing 1 40 breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1) 32 CATTAATTATGGCCAGTTGAA 0.279000 3 7 0.004672 0.00486053 1 1 0 CALCA 796 broad.mit.edu 37 11 14991500 14991500 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:14991500G>T ENST00000361010.3 - 3 282 c.208C>A c.(208-210)Caa>Aaa p.Q70K CALCA_ENST00000331587.4_Missense_Mutation_p.Q70K|CALCB_ENST00000523376.1_Intron|CALCA_ENST00000486207.1_Missense_Mutation_p.Q70K|CALCA_ENST00000396372.2_Missense_Mutation_p.Q70K|CALCA_ENST00000359642.3_Missense_Mutation_p.Q70K NM_001033953.2 NP_001029125.1 P06881 CALCA_HUMAN calcitonin-related polypeptide alpha 70 activation of adenylate cyclase activity|cell-cell signaling|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|endothelial cell migration|endothelial cell proliferation|leukocyte cell-cell adhesion|negative regulation of blood pressure|negative regulation of bone resorption|negative regulation of calcium ion transport into cytosol|negative regulation of osteoclast differentiation|neurological system process involved in regulation of systemic arterial blood pressure|positive regulation of interleukin-1 alpha production|positive regulation of interleukin-8 production|positive regulation of macrophage differentiation|positive regulation of vasodilation|regulation of blood pressure|vasculature development|vasodilation cytosol|extracellular space hormone activity central_nervous_system(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1) 8 Phentolamine(DB00692) TCTCTCTCTTGCTCCTGCTCC 0.632000 OREG0020791 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 25 73 5.61819e-17 8.01628e-17 1 1 0 RAMP2 10266 broad.mit.edu 37 17 40914377 40914377 + Silent SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr17:40914377G>A ENST00000253796.5 + 3 236 c.168G>A c.(166-168)ggG>ggA p.G56G RAMP2_ENST00000587142.1_Silent_p.G61G|RAMP2_ENST00000588576.1_Intron|RAMP2_ENST00000589683.1_5'UTR NM_005854.2 NP_005845.2 O60895 RAMP2_HUMAN receptor (G protein-coupled) activity modifying protein 2 56 intracellular protein transport|receptor-mediated endocytosis|regulation of G-protein coupled receptor protein signaling pathway coated pit|integral to plasma membrane|lysosome protein transporter activity endometrium(2)|lung(1)|stomach(1) 4 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.0741) Pramlintide(DB01278) CTACAGGGGGGACGGTGAAGA 0.493000 53 135 0 0 1 0 0 CDH13 1012 broad.mit.edu 37 16 83065758 83065758 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr16:83065758C>A ENST00000566620.1 + 3 591 c.301C>A c.(301-303)Ccc>Acc p.P101T CDH13_ENST00000428848.3_Missense_Mutation_p.P101T|CDH13_ENST00000431540.3_Missense_Mutation_p.P101T|CDH13_ENST00000446376.2_Missense_Mutation_p.P101T|CDH13_ENST00000569454.1_3'UTR|CDH13_ENST00000565636.1_Missense_Mutation_p.P101T|CDH13_ENST00000268613.10_Missense_Mutation_p.P148T NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4 NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1 P55290 CAD13_HUMAN cadherin 13 101 adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding large_intestine(1) 1 all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09) COAD - Colon adenocarcinoma(5;0.0268) TGCACGGACCCCCCATGCGGA 0.522000 9 9 0.0692343 0.0702363 1 1 0 PKHD1L1 93035 broad.mit.edu 37 8 110452937 110452937 + Splice_Site SNP A A G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr8:110452937A>G ENST00000378402.5 + 33 4060 c.e33-1 NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) TTTTTTTCTCAGAGACAAATT 0.348000 HNSCC(38;0.096) 12 62 0 0 1 0 0 SART3 9733 broad.mit.edu 37 12 108941751 108941751 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr12:108941751C>A ENST00000228284.3 - 3 690 c.456G>T c.(454-456)tgG>tgT p.W152C SART3_ENST00000431469.2_Missense_Mutation_p.W152C|SART3_ENST00000552221.1_5'UTR NM_014706.3 NP_055521.1 Q15020 SART3_HUMAN squamous cell carcinoma antigen recognized by T cells 3 152 RNA processing cytoplasm|nuclear speck nucleotide binding|protein binding|RNA binding NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|stomach(1) 25 CGTCATGCAGCCACTCCAGCC 0.498000 Porokeratosis 9 32 1.58986e-06 1.82314e-06 1 1 0 CYYR1 116159 broad.mit.edu 37 21 27852671 27852671 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr21:27852671C>A ENST00000299340.4 - 3 597 c.254G>T c.(253-255)tGc>tTc p.C85F AP001597.1_ENST00000357401.3_RNA|AP001597.1_ENST00000414486.1_RNA|CYYR1_ENST00000400043.3_Missense_Mutation_p.C85F|CYYR1_ENST00000435845.2_3'UTR NM_052954.2 NP_443186.1 Q96J86 CYYR1_HUMAN cysteine/tyrosine-rich 1 85 integral to membrane large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 15 CATGCACATGCAGATGCATAT 0.488000 44 52 3.05275e-18 4.40342e-18 1 1 0 AKAP6 9472 broad.mit.edu 37 14 33201884 33201884 + Silent SNP T T C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr14:33201884T>C ENST00000557354.1 + 10 3324 c.3225T>C c.(3223-3225)atT>atC p.I1075I AKAP6_ENST00000557272.1_Intron|AKAP6_ENST00000280979.4_Intron Q13023 AKAP6_HUMAN A kinase (PRKA) anchor protein 6 0 protein targeting calcium channel complex|nuclear membrane|sarcoplasmic reticulum protein kinase A binding|receptor binding NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2) 122 Breast(36;0.0388)|Prostate(35;0.15) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116) GBM - Glioblastoma multiforme(265;0.019) GATTTCTAATTTGAGGCACAA 0.353000 4 32 0 0 1 0 0 TECTA 7007 broad.mit.edu 37 11 121000390 121000390 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:121000390G>T ENST00000392793.1 + 10 2682 c.2411G>T c.(2410-2412)gGg>gTg p.G804V TECTA_ENST00000264037.2_Missense_Mutation_p.G804V O75443 TECTA_HUMAN tectorin alpha 804 VWFD 2. cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix TECTA/TBCEL(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 135 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) CATCCTTCGGGGAAGCTGGAA 0.438000 68 153 2.84776e-26 4.37501e-26 1 1 0 ATP10D 57205 broad.mit.edu 37 4 47560211 47560211 + Silent SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr4:47560211C>T ENST00000273859.3 + 12 2624 c.2355C>T c.(2353-2355)caC>caT p.H785H AC092597.3_ENST00000508081.1_RNA NM_020453.3 NP_065186.3 Q9P241 AT10D_HUMAN ATPase, class V, type 10D 785 ATP biosynthetic process|cation transport integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1) 66 TGGTCCGACACCCTCTTTCCA 0.443000 25 99 0 0 1 0 0 KAT5 10524 broad.mit.edu 37 11 65482089 65482089 + Silent SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:65482089C>A ENST00000341318.4 + 7 1048 c.814C>A c.(814-816)Cgg>Agg p.R272R KAT5_ENST00000530446.1_Silent_p.R220R|KAT5_ENST00000534650.1_Silent_p.R28R|KAT5_ENST00000377046.3_Silent_p.R239R|KAT5_ENST00000352980.4_Silent_p.R187R NM_182710.2 NP_874369.1 Q92993 KAT5_HUMAN K(lysine) acetyltransferase 5 239 androgen receptor signaling pathway|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|double-strand break repair|interspecies interaction between organisms|negative regulation of interleukin-2 production|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent NuA4 histone acetyltransferase complex|nucleolus|perinuclear region of cytoplasm|Piccolo NuA4 histone acetyltransferase complex androgen receptor binding|histone acetyltransferase activity|metal ion binding|repressing transcription factor binding|transcription coactivator activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9) 21 TGAGCTGGGCCGGCACCGCCT 0.582000 26 103 7.92952e-12 1.03167e-11 1 1 0 TTN 7273 broad.mit.edu 37 2 179647602 179647602 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr2:179647602C>A ENST00000589042.1 - 18 3255 c.3031G>T c.(3031-3033)Ggg>Tgg p.G1011W TTN_ENST00000591111.1_Missense_Mutation_p.G1011W|TTN_ENST00000359218.5_Missense_Mutation_p.G965W|TTN_ENST00000360870.5_Missense_Mutation_p.G1011W|TTN_ENST00000342175.6_Missense_Mutation_p.G965W|TTN_ENST00000342992.6_Missense_Mutation_p.G1011W|TTN_ENST00000460472.2_Missense_Mutation_p.G965W NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 1011 Ig-like 3. 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) GTAAATCGCCCGCTGTCTTCC 0.507000 19 47 8.34094e-07 9.62878e-07 1 1 0 MAPK7 5598 broad.mit.edu 37 17 19284396 19284396 + Nonsense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr17:19284396G>T ENST00000308406.5 + 4 1260 c.874G>T c.(874-876)Gag>Tag p.E292* MAPK7_ENST00000299612.7_Nonsense_Mutation_p.E153*|MAPK7_ENST00000571657.1_Intron|MAPK7_ENST00000395602.4_Nonsense_Mutation_p.E292*|MAPK7_ENST00000395604.3_Nonsense_Mutation_p.E292* NM_139033.2 NP_620602.2 Q13164 MK07_HUMAN mitogen-activated protein kinase 7 292 Necessary for oligomerization (By similarity).|Protein kinase. cell cycle|cell differentiation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|MAP kinase activity|protein binding autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 30 all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206) TGTGGGGGCTGAGAGGGTGCG 0.617000 18 41 6.94344e-10 8.6523e-10 1 1 0 PTPN2 5771 broad.mit.edu 37 18 12817224 12817224 + Silent SNP C C T rs141927482 byFrequency TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr18:12817224C>T ENST00000309660.5 - 6 729 c.636G>A c.(634-636)gcG>gcA p.A212A PTPN2_ENST00000591115.1_Silent_p.A235A|PTPN2_ENST00000353319.4_Silent_p.A212A|PTPN2_ENST00000591497.1_Silent_p.A183A|PTPN2_ENST00000327283.3_Silent_p.A212A NM_002828.3 NP_002819.2 P17706 PTN2_HUMAN protein tyrosine phosphatase, non-receptor type 2 212 Tyrosine-protein phosphatase. interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway endoplasmic reticulum|nucleoplasm protein binding breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|prostate(1)|skin(3) 13 Lung NSC(161;8.94e-06) AGTGGATCACCGCAGGCCCAT 0.473000 42 56 0 0 1 0 0 DRD1 1812 broad.mit.edu 37 5 174869841 174869841 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr5:174869841C>A ENST00000393752.2 - 2 1254 c.262G>T c.(262-264)Ggc>Tgc p.G88C NM_000794.3 NP_000785.1 P21728 DRD1_HUMAN dopamine receptor D1 88 activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning endoplasmic reticulum membrane|membrane fraction protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 23 all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104) Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624) GGCCAGAAGCCAGCAATCTCA 0.552000 20 27 1.15919e-05 1.2942e-05 1 1 0 SLC6A13 6540 broad.mit.edu 37 12 335607 335607 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr12:335607C>A ENST00000343164.4 - 9 1061 c.1009G>T c.(1009-1011)Ggc>Tgc p.G337C SLC6A13_ENST00000445055.2_Missense_Mutation_p.G245C NM_016615.4 NP_057699.2 Q9NSD5 S6A13_HUMAN solute carrier family 6 (neurotransmitter transporter), member 13 337 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) GACATGAAGCCCAGGATGGAG 0.622000 15 43 0.000308642 0.000330131 1 1 0 SH2D1B 117157 broad.mit.edu 37 1 162381712 162381712 + Missense_Mutation SNP T T G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:162381712T>G ENST00000367929.2 - 1 204 c.95A>C c.(94-96)gAc>gCc p.D32A SH2D1B_ENST00000493550.1_5'UTR|SH2D1B_ENST00000359567.3_Missense_Mutation_p.D32A NM_053282.4 NP_444512.2 O14796 SH21B_HUMAN SH2 domain containing 1B 32 SH2. p.D32G(1) kidney(1)|large_intestine(1)|lung(4)|pancreas(1) 7 all_hematologic(112;0.115) BRCA - Breast invasive adenocarcinoma(70;0.126) CGACTCGCTGTCTCTTAAAAG 0.507000 20 71 0 0 1 0 0 MPO 4353 broad.mit.edu 37 17 56355399 56355399 + Silent SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr17:56355399G>A ENST00000340482.3 - 6 1265 c.1089C>T c.(1087-1089)aaC>aaT p.N363N MPO_ENST00000225275.3_Silent_p.N331N|MPO_ENST00000578493.1_5'UTR P05164 PERM_HUMAN myeloperoxidase 331 anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling extracellular space|lysosome|nucleus|stored secretory granule chromatin binding|heme binding|heparin binding|peroxidase activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 46 Cefdinir(DB00535) AAGTGAGCGCGTTGATCTGGT 0.642000 28 85 0 0 1 0 0 FBXW10 10517 broad.mit.edu 37 17 18681912 18681912 + Silent SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr17:18681912C>T ENST00000308799.4 + 12 2706 c.2487C>T c.(2485-2487)agC>agT p.S829S FBXW10_ENST00000301938.4_Silent_p.S767S|FBXW10_ENST00000395665.4_Silent_p.S820S|FBXW10_ENST00000395667.1_Silent_p.S819S Q5XX13 FBW10_HUMAN F-box and WD repeat domain containing 10 820 NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 42 TGACTGTTAGCGCCCTGCAGC 0.478000 7 38 0 0 1 0 0 PANX3 116337 broad.mit.edu 37 11 124481559 124481559 + Missense_Mutation SNP G G C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:124481559G>C ENST00000284288.2 + 1 174 c.107G>C c.(106-108)cGg>cCg p.R36P NM_052959.2 NP_443191.1 Q96QZ0 PANX3_HUMAN pannexin 3 36 protein hexamerization gap junction|integral to membrane gap junction hemi-channel activity|ion channel activity p.R36Q(1) NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|urinary_tract(1) 26 all_hematologic(175;0.215) Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219) CCCCTGGACCGGATAGTCAAG 0.597000 17 67 0 0 1 0 0 PPP6R1 22870 broad.mit.edu 37 19 55750845 55750845 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:55750845C>T ENST00000412770.2 - 15 2245 c.1679G>A c.(1678-1680)cGc>cAc p.R560H PPP6R1_ENST00000587283.1_Missense_Mutation_p.R560H NM_014931.3 NP_055746.3 Q9UPN7 PP6R1_HUMAN protein phosphatase 6, regulatory subunit 1 560 regulation of phosphoprotein phosphatase activity cytoplasm protein phosphatase binding breast(1) 1 AGAGGTCATGCGCTGCATCTG 0.602000 13 28 0 0 1 0 0 RIOK3 8780 broad.mit.edu 37 18 21059325 21059325 + Silent SNP A A G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr18:21059325A>G ENST00000339486.3 + 12 2006 c.1389A>G c.(1387-1389)gaA>gaG p.E463E RIOK3_ENST00000577501.1_Silent_p.E460E|RIOK3_ENST00000581585.1_Silent_p.E447E NM_003831.3 NP_003822.2 O14730 RIOK3_HUMAN RIO kinase 3 463 Protein kinase. chromosome segregation ATP binding|protein binding|protein serine/threonine kinase activity central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(2) 10 all_cancers(21;0.000106)|all_epithelial(16;6.74e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0202)|Ovarian(20;0.127) GTGAACGAGAACTCTTCAATG 0.373000 5 47 0 0 1 0 0 AMY1C 278 broad.mit.edu 37 1 104297223 104297223 + Silent SNP A A T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:104297223A>T ENST00000370079.3 + 6 1045 c.981A>T c.(979-981)atA>atT p.I327I NM_001008219.1 NP_001008220.1 P04745 AMY1_HUMAN amylase, alpha 1C (salivary) 327 carbohydrate metabolic process|digestion extracellular region alpha-amylase activity|metal ion binding|protein binding lung(5)|skin(3) 8 all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451) Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111) GAGCCTCTATACTTACCTTCT 0.403000 10 640 0 0 1 0 0 TFAP2D 83741 broad.mit.edu 37 6 50686841 50686841 + Silent SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr6:50686841C>A ENST00000008391.3 + 3 804 c.576C>A c.(574-576)ggC>ggA p.G192G TFAP2D_ENST00000492804.1_3'UTR NM_172238.3 NP_758438.2 Q7Z6R9 AP2D_HUMAN transcription factor AP-2 delta (activating enhancer binding protein 2 delta) 192 DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1) 60 Lung NSC(77;0.0334) TTCTCAATGGCCAAGGTGGAG 0.398000 6 18 0.00116845 0.00122986 1 1 0 TRIM50 135892 broad.mit.edu 37 7 72734169 72734169 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr7:72734169C>A ENST00000333149.2 - 3 672 c.472G>T c.(472-474)Gtg>Ttg p.V158L TRIM50_ENST00000453152.1_Missense_Mutation_p.V158L NM_178125.2 NP_835226.1 Q86XT4 TRI50_HUMAN tripartite motif containing 50 158 cytoplasm|intracellular membrane-bounded organelle ligase activity|zinc ion binding endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2) 20 CGGTTGTTCACCAGTTTGGCG 0.587000 82 113 2.3666e-43 3.81891e-43 1 1 0 SPDYC 387778 broad.mit.edu 37 11 64938899 64938899 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:64938899G>T ENST00000377185.2 + 2 210 c.128G>T c.(127-129)cGg>cTg p.R43L NM_001008778.1 NP_001008778.1 Q5MJ68 SPDYC_HUMAN speedy/RINGO cell cycle regulator family member C 43 cell cycle nucleus protein kinase binding breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1) 16 GGCTGCAGCCGGCAAGGTGGG 0.627000 24 56 4.26978e-12 5.57457e-12 1 1 0 FGF2 2247 broad.mit.edu 37 4 123748452 123748452 + Silent SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr4:123748452G>T ENST00000264498.3 + 1 590 c.522G>T c.(520-522)ctG>ctT p.L174L NM_002006.4 NP_001997.5 P09038 FGF2_HUMAN fibroblast growth factor 2 (basic) 174 activation of MAPK activity|branching involved in ureteric bud morphogenesis|cell migration involved in sprouting angiogenesis|chemotaxis|chondroblast differentiation|embryonic morphogenesis|fibroblast growth factor receptor signaling pathway|inositol phosphate biosynthetic process|insulin receptor signaling pathway|negative regulation of blood vessel endothelial cell migration|negative regulation of cell death|organ morphogenesis|phosphatidylinositol biosynthetic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of cardiac muscle cell proliferation|positive regulation of cell division|positive regulation of cell fate specification|positive regulation of ERK1 and ERK2 cascade|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of phospholipase C activity|Ras protein signal transduction|release of sequestered calcium ion into cytosol|wound healing extracellular space fibroblast growth factor receptor binding|growth factor activity|heparin binding|ligand-dependent nuclear receptor transcription coactivator activity central_nervous_system(1)|cervix(1)|endometrium(1)|lung(3)|ovary(1)|skin(1) 8 Pentosan Polysulfate(DB00686) GCTTCTTCCTGCGCATCCACC 0.672000 8 36 0.000274275 0.000293932 1 1 0 KIF1C 10749 broad.mit.edu 37 17 4923972 4923972 + Splice_Site SNP A A T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr17:4923972A>T ENST00000320785.5 + 20 2293 c.1937_splice c.e20+1 p.R646_splice KIF1C_ENST00000573815.1_3'UTR NM_006612.5 NP_006603.2 O43896 KIF1C_HUMAN kinesin family member 1C 646 microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER endoplasmic reticulum|Golgi apparatus|microtubule ATP binding|microtubule motor activity NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3) 30 AATGGAGAAGAGGTGCGAGGG 0.622000 15 13 0 0 1 0 0 WSCD2 9671 broad.mit.edu 37 12 108620802 108620802 + Missense_Mutation SNP C C G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr12:108620802C>G ENST00000332082.4 + 7 1658 c.840C>G c.(838-840)tgC>tgG p.C280W WSCD2_ENST00000261400.3_Missense_Mutation_p.C280W|WSCD2_ENST00000547525.1_Missense_Mutation_p.C280W|WSCD2_ENST00000549903.1_Missense_Mutation_p.C280W Q2TBF2 WSCD2_HUMAN WSC domain containing 2 280 WSC 2. integral to membrane breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 57 GCACCGCCTGCCACTGTGGGT 0.597000 22 49 0 0 1 0 0 SLCO4A1 28231 broad.mit.edu 37 20 61288434 61288434 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr20:61288434G>A ENST00000217159.1 + 2 833 c.628G>A c.(628-630)Gcc>Acc p.A210T SLCO4A1_ENST00000370507.1_Missense_Mutation_p.A210T NM_016354.3 NP_057438.3 Q96BD0 SO4A1_HUMAN solute carrier organic anion transporter family, member 4A1 210 sodium-independent organic anion transport integral to membrane|plasma membrane thyroid hormone transmembrane transporter activity endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2) 21 Breast(26;3.65e-08) BRCA - Breast invasive adenocarcinoma(19;2.33e-06) GACGTGCCCTGCCAACCCCGG 0.682000 6 22 0 0 1 0 0 DKK2 27123 broad.mit.edu 37 4 107956660 107956660 + Missense_Mutation SNP C C G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr4:107956660C>G ENST00000285311.3 - 1 794 c.89G>C c.(88-90)aGt>aCt p.S30T DKK2_ENST00000510463.1_Intron|DKK2_ENST00000513208.1_Intron NM_014421.2 NP_055236.1 Q9UBU2 DKK2_HUMAN dickkopf WNT signaling pathway inhibitor 2 30 multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway extracellular space autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 32 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;6.34e-06) GGCCCGCGAACTGCCGATCTG 0.632000 35 115 0 0 1 0 0 LYST 1130 broad.mit.edu 37 1 235866047 235866047 + Splice_Site SNP C C G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:235866047C>G ENST00000389794.3 - 45 10548 c.10374_splice c.e45+1 p.P3458_splice LYST_ENST00000473037.1_5'UTR|LYST_ENST00000389793.2_Splice_Site_p.P3458_splice Q99698 LYST_HUMAN lysosomal trafficking regulator 3458 defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 162 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) AATGACATACCGGATAGGTGA 0.483000 28 89 0 0 1 0 0 LIPG 9388 broad.mit.edu 37 18 47101831 47101831 + Missense_Mutation SNP T T C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr18:47101831T>C ENST00000261292.4 + 5 942 c.664T>C c.(664-666)Tac>Cac p.Y222H LIPG_ENST00000580036.1_Missense_Mutation_p.Y222H|LIPG_ENST00000427224.2_Intron|LIPG_ENST00000577628.1_Missense_Mutation_p.Y258H NM_006033.2 NP_006024.1 Q9Y5X9 LIPE_HUMAN lipase, endothelial 222 cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport extracellular space heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2) 18 CCTCCACACCTACACGCGTTC 0.562000 11 66 0 0 1 0 0 SOGA2 23255 broad.mit.edu 37 18 8824793 8824793 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr18:8824793G>T ENST00000359865.3 + 15 3427 c.3285G>T c.(3283-3285)gaG>gaT p.E1095D SOGA2_ENST00000400050.3_Missense_Mutation_p.E1054D|SOGA2_ENST00000517570.1_Missense_Mutation_p.E1054D|SOGA2_ENST00000518815.1_Missense_Mutation_p.E420D|SOGA2_ENST00000306285.7_Missense_Mutation_p.E420D|SOGA2_ENST00000306329.11_Missense_Mutation_p.E1414D NM_015210.3 NP_056025.2 Q9Y4B5 CC165_HUMAN SOGA family member 2 1405 GCAGCAAGGAGGATGTCACCC 0.607000 5 86 0.000602214 0.000639568 1 1 0 DLG2 1740 broad.mit.edu 37 11 83641488 83641488 + Translation_Start_Site SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:83641488C>T ENST00000376106.3 - 0 897 DLG2_ENST00000398309.2_Missense_Mutation_p.C355Y|DLG2_ENST00000543673.1_Missense_Mutation_p.C460Y|DLG2_ENST00000537455.1_Missense_Mutation_p.C109Y|DLG2_ENST00000376104.2_Missense_Mutation_p.C460Y|DLG2_ENST00000398301.2_Missense_Mutation_p.C394Y|DLG2_ENST00000524982.1_Missense_Mutation_p.C355Y|DLG2_ENST00000280241.8_Missense_Mutation_p.C394Y|DLG2_ENST00000418306.2_Intron|DLG2_ENST00000532653.1_Missense_Mutation_p.C355Y|DLG2_ENST00000330014.6_Missense_Mutation_p.C294Y|DLG2_ENST00000531015.1_Missense_Mutation_p.C322Y Q15700 DLG2_HUMAN discs, large homolog 2 (Drosophila) cell junction|postsynaptic density|postsynaptic membrane guanylate kinase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 71 all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036) AGGCTTATCACATAGTTTGTT 0.488000 37 110 0 0 1 0 0 MSL3 10943 broad.mit.edu 37 X 11781090 11781090 + Silent SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chrX:11781090C>T ENST00000337339.2 + 7 750 c.723C>T c.(721-723)aaC>aaT p.N241N MSL3_ENST00000361672.2_Silent_p.N92N|MSL3_ENST00000380693.3_Silent_p.N75N|MSL3_ENST00000312196.4_Silent_p.N241N|MSL3_ENST00000398527.2_Silent_p.N229N NM_078628.1 NP_523352.1 Q8N5Y2 MS3L1_HUMAN male-specific lethal 3 homolog (Drosophila) 241 histone H4-K16 acetylation|multicellular organismal development|transcription from RNA polymerase II promoter MSL complex DNA binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1) 19 CCAACATGAACGTGCATTATA 0.443000 6 45 0 0 1 0 0 ZNF536 9745 broad.mit.edu 37 19 30936591 30936591 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:30936591G>T ENST00000355537.3 + 2 2269 c.2122G>T c.(2122-2124)Ggg>Tgg p.G708W NM_014717.1 NP_055532.1 O15090 ZN536_HUMAN zinc finger protein 536 708 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding p.G708W(1) NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 182 Esophageal squamous(110;0.0834) CTCCCAGACCGGGAGTGCCCA 0.677000 15 32 2.32078e-09 2.86018e-09 1 1 0 MIEF1 54471 broad.mit.edu 37 22 39908302 39908302 + Nonsense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr22:39908302C>T ENST00000325301.2 + 5 812 c.388C>T c.(388-390)Cga>Tga p.R130* SMCR7L_ENST00000404569.1_Nonsense_Mutation_p.R130*|SMCR7L_ENST00000402881.1_Nonsense_Mutation_p.R130* NM_019008.4 NP_061881.2 Q9NQG6 SMC7L_HUMAN 130 integral to membrane|mitochondrion central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|liver(1)|lung(6)|ovary(1)|skin(1) 16 Melanoma(58;0.04) GAAGAAGTCACGACTCCGCAT 0.602000 8 78 0 0 1 0 0 ZNF732 654254 broad.mit.edu 37 4 289822 289822 + Silent SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr4:289822G>A ENST00000419098.1 - 2 136 c.126C>T c.(124-126)tcC>tcT p.S42S NM_001137608.1 NP_001131080.1 B4DXR9 ZN732_HUMAN zinc finger protein 732 42 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|lung(2) 3 CCTCACCCAGGGAGATCAGGT 0.423000 8 51 0 0 1 0 0 LDB2 9079 broad.mit.edu 37 4 16587547 16587547 + Missense_Mutation SNP T T A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr4:16587547T>A ENST00000502640.1 - 5 761 c.613A>T c.(613-615)Agg>Tgg p.R205W LDB2_ENST00000503178.2_Missense_Mutation_p.R81W|LDB2_ENST00000304523.5_Missense_Mutation_p.R205W|LDB2_ENST00000515064.1_Missense_Mutation_p.R205W|LDB2_ENST00000441778.2_Missense_Mutation_p.R205W O43679 LDB2_HUMAN LIM domain binding 2 205 LIM domain binding|transcription cofactor activity breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1) 33 GATCTTACCCTGAGGTAGTTG 0.408000 22 56 0 0 1 0 0 LEPR 3953 broad.mit.edu 37 1 66088638 66088638 + Missense_Mutation SNP T T A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:66088638T>A ENST00000349533.6 + 19 2832 c.2647T>A c.(2647-2649)Tgg>Agg p.W883R LEPR_ENST00000406510.3_Intron|LEPR_ENST00000371058.1_Missense_Mutation_p.W883R|LEPR_ENST00000344610.8_Missense_Mutation_p.W883R|LEPR_ENST00000371060.3_Missense_Mutation_p.W883R|LEPR_ENST00000371059.3_Missense_Mutation_p.W883R NM_002303.5 NP_002294.2 P48357 LEPR_HUMAN leptin receptor 883 energy reserve metabolic process|multicellular organismal development extracellular region|integral to membrane|plasma membrane cytokine receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2) 36 OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094) GAATTGTTCCTGGGCACAAGG 0.343000 12 27 0 0 1 0 0 VRK3 51231 broad.mit.edu 37 19 50496116 50496116 + Splice_Site SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:50496116C>A ENST00000599538.1 - 10 1628 c.e10+1 VRK3_ENST00000377011.2_Splice_Site|VRK3_ENST00000316763.3_Splice_Site|VRK3_ENST00000443401.2_Splice_Site|VRK3_ENST00000601341.1_Splice_Site|VRK3_ENST00000593919.1_Splice_Site|VRK3_ENST00000594092.1_Splice_Site|VRK3_ENST00000424804.2_Splice_Site|VRK3_ENST00000601912.1_Splice_Site|VRK3_ENST00000594948.1_Splice_Site Q8IV63 VRK3_HUMAN vaccinia related kinase 3 nucleus ATP binding|protein kinase activity breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)|stomach(2)|urinary_tract(1) 23 all_neural(266;0.0459)|Ovarian(192;0.0481) GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652) CTGGCTCTTACCTGACTCTGG 0.473000 37 91 1.57019e-19 2.30494e-19 1 1 0 DPPA3 359787 broad.mit.edu 37 12 7864237 7864237 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr12:7864237G>T ENST00000345088.2 + 1 188 c.71G>T c.(70-72)cGg>cTg p.R24L NM_199286.2 NP_954980.1 Q6W0C5 DPPA3_HUMAN developmental pluripotency associated 3 24 cytoplasm|nucleus endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2) 8 Kidney(36;0.0887) GAAAATTCCCGGGACGATTCA 0.458000 14 23 4.3838e-07 5.10798e-07 1 1 0 SOX10 6663 broad.mit.edu 37 22 38374019 38374019 + Silent SNP G G C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr22:38374019G>C ENST00000396884.2 - 3 834 c.552C>G c.(550-552)gcC>gcG p.A184A POLR2F_ENST00000407936.1_Intron|POLR2F_ENST00000405557.1_Intron|SOX10_ENST00000360880.2_Silent_p.A184A NM_006941.3 NP_008872.1 P56693 SOX10_HUMAN SRY (sex determining region Y)-box 10 184 cytoplasm|nucleus DNA binding|identical protein binding|transcription coactivator activity NS(6)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|skin(2) 20 Melanoma(58;0.045) CCTCGCCCTGGGCGGCCTTCC 0.687000 22 17 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237586416 237586416 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:237586416G>T ENST00000366574.2 + 12 1190 c.873G>T c.(871-873)tgG>tgT p.W291C RYR2_ENST00000360064.6_Missense_Mutation_p.W289C|RYR2_ENST00000542537.1_Missense_Mutation_p.W275C NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 291 MIR 4. 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) ACATAAGATGGGGACAGCCAT 0.423000 33 138 2.87052e-16 4.05197e-16 1 1 0 TEP1 7011 broad.mit.edu 37 14 20852648 20852648 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr14:20852648C>T ENST00000262715.5 - 23 3281 c.3241G>A c.(3241-3243)Ggt>Agt p.G1081S TEP1_ENST00000556935.1_Missense_Mutation_p.G973S NM_007110.4 NP_009041.2 Q99973 TEP1_HUMAN telomerase-associated protein 1 1081 telomere maintenance via recombination chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex ATP binding|RNA binding NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 96 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;7.42e-08)|all cancers(55;6.46e-07) GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233) GCTGCCACACCCCCCCACTCA 0.587000 5 281 0 0 1 0 0 MFSD8 256471 broad.mit.edu 37 4 128870977 128870977 + Silent SNP T T A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr4:128870977T>A ENST00000296468.3 - 4 307 c.180A>T c.(178-180)atA>atT p.I60I MFSD8_ENST00000541133.1_Silent_p.I15I|MFSD8_ENST00000515130.1_5'UTR|MFSD8_ENST00000513559.1_Silent_p.I15I NM_152778.2 NP_689991.1 Q8NHS3 MFSD8_HUMAN major facilitator superfamily domain containing 8 60 cell death|transmembrane transport integral to membrane|lysosomal membrane cervix(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1) 23 GATATGGCCATATGGACATCA 0.313000 45 97 0 0 1 0 0 LVRN 206338 broad.mit.edu 37 5 115298832 115298832 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr5:115298832G>T ENST00000357872.4 + 1 642 c.518G>T c.(517-519)cGc>cTc p.R173L AQPEP_ENST00000395528.2_5'UTR NM_173800.4 NP_776161.3 Q6Q4G3 AMPQ_HUMAN 173 proteolysis integral to membrane metallopeptidase activity|zinc ion binding ACAGTGGGCCGCGTGCCCGTG 0.657000 9 22 0.00448238 0.00467627 1 1 0 HTR2A 3356 broad.mit.edu 37 13 47409048 47409048 + Missense_Mutation SNP G G A rs6308 byFrequency TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr13:47409048G>A ENST00000378688.4 - 3 1471 c.1340C>T c.(1339-1341)gCt>gTt p.A447V HTR2A_ENST00000543956.1_Missense_Mutation_p.A363V|HTR2A_ENST00000542664.1_Missense_Mutation_p.A447V P28223 5HT2A_HUMAN 5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled 447 A -> V (in dbSNP:rs6308). ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission integral to plasma membrane 1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333) GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224) Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246) CTTTCCTAGAGCAACCATTGA 0.443000 51 60 0 0 1 0 0 SERPINB7 8710 broad.mit.edu 37 18 61460403 61460403 + Silent SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr18:61460403C>T ENST00000398019.2 + 4 553 c.228C>T c.(226-228)ctC>ctT p.L76L SERPINB7_ENST00000540675.1_Silent_p.L59L|SERPINB7_ENST00000336429.2_Silent_p.L76L|SERPINB7_ENST00000546027.1_Silent_p.L76L NM_003784.3 NP_003775.1 O75635 SPB7_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 7 76 regulation of proteolysis cytoplasm serine-type endopeptidase inhibitor activity central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3) 27 Esophageal squamous(42;0.129) AGTCAGGGCTCCAGTCTCAAC 0.323000 8 14 0 0 1 0 0 SGSM2 9905 broad.mit.edu 37 17 2278921 2278921 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr17:2278921G>A ENST00000268989.3 + 18 2413 c.2236G>A c.(2236-2238)Gac>Aac p.D746N SGSM2_ENST00000574563.1_Missense_Mutation_p.D701N|RP1-59D14.5_ENST00000574290.1_RNA|SGSM2_ENST00000426855.2_Missense_Mutation_p.D701N NM_014853.2 NP_055668.2 O43147 SGSM2_HUMAN small G protein signaling modulator 2 701 Rab-GAP TBC. intracellular Rab GTPase activator activity biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115) CGTGGAGTTCGACTCTCCAGA 0.622000 14 46 0 0 1 0 0 CA9 768 broad.mit.edu 37 9 35674171 35674171 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr9:35674171C>A ENST00000378357.4 + 1 319 c.215C>A c.(214-216)cCc>cAc p.P72H NM_001216.2 NP_001207.2 Q16790 CAH9_HUMAN carbonic anhydrase IX 72 Proteoglycan-like (PG). one-carbon metabolic process integral to membrane|microvillus membrane|nucleolus carbonate dehydratase activity|zinc ion binding kidney(1)|large_intestine(3)|lung(5)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1) 17 all_epithelial(49;0.217) Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) GAGGATTCACCCAGAGAGGAG 0.567000 5 26 0.0215528 0.0220241 1 1 0 HAVCR2 84868 broad.mit.edu 37 5 156514117 156514117 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr5:156514117G>T ENST00000307851.4 - 7 1632 c.902C>A c.(901-903)cCa>cAa p.P301Q HAVCR2_ENST00000522593.1_Missense_Mutation_p.P273Q NM_032782.4 NP_116171.3 Q8TDQ0 HAVR2_HUMAN hepatitis A virus cellular receptor 2 301 integral to membrane cervix(1)|large_intestine(4)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 22 Renal(175;0.00212) Medulloblastoma(196;0.0354)|all_neural(177;0.0999) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TTGGATCTATGGCATTGCAAA 0.448000 13 14 2.32078e-09 2.86018e-09 1 1 0 PLD5 200150 broad.mit.edu 37 1 242264057 242264057 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:242264057C>A ENST00000442594.2 - 10 1500 c.991G>T c.(991-993)Gct>Tct p.A331S PLD5_ENST00000536534.1_Missense_Mutation_p.A423S|PLD5_ENST00000427495.1_Missense_Mutation_p.A361S NM_152666.2 NP_689879.2 Q8N7P1 PLD5_HUMAN phospholipase D family, member 5 423 integral to membrane catalytic activity breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1) 55 Melanoma(84;0.242) OV - Ovarian serous cystadenocarcinoma(106;0.0329) GTAGCACAAGCATTCTCTCTT 0.388000 11 50 3.07112e-06 3.47729e-06 1 1 0 SMARCB1 6598 broad.mit.edu 37 22 24145517 24145517 + Missense_Mutation SNP A A G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr22:24145517A>G ENST00000344921.6 + 5 770 c.563A>G c.(562-564)aAc>aGc p.N188S SMARCB1_ENST00000263121.7_Missense_Mutation_p.N179S|SMARCB1_ENST00000407422.3_Missense_Mutation_p.N170S|SMARCB1_ENST00000407082.3_Missense_Mutation_p.N133S Q12824 SNF5_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 179 2 X approximate tandem repeats.|HIV-1 integrase-binding.|MYC-binding. cell cycle|chromatin remodeling|DNA integration|interspecies interaction between organisms|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|retroviral genome replication|transcription, DNA-dependent nBAF complex|npBAF complex|nucleolus|nucleoplasm|SWI/SNF complex p53 binding p.?(6) bone(4)|central_nervous_system(198)|endometrium(4)|haematopoietic_and_lymphoid_tissue(25)|kidney(3)|large_intestine(5)|liver(2)|lung(5)|meninges(5)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|soft_tissue(194) 458 Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05) ATCCATGAGAACGCATCTCAG 0.552000 """D, N, F, S""" malignant rhabdoid malignant rhabdoid 26 208 0 0 1 0 0 FCER1A 2205 broad.mit.edu 37 1 159272168 159272168 + Missense_Mutation SNP T T A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:159272168T>A ENST00000368115.1 + 2 113 c.14T>A c.(13-15)aTg>aAg p.M5K FCER1A_ENST00000368114.1_Missense_Mutation_p.M5K NM_002001.3 NP_001992.1 P12319 FCERA_HUMAN Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide 5 integral to plasma membrane autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 all_hematologic(112;0.0429) Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043) GCTCCTGCCATGGAATCCCCT 0.468000 65 212 0 0 1 0 0 RYR1 6261 broad.mit.edu 37 19 39023341 39023341 + Missense_Mutation SNP G G A rs145499779 TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:39023341G>A ENST00000355481.4 + 77 11340 c.11209G>A c.(11209-11211)Ggt>Agt p.G3737S RYR1_ENST00000360985.3_Missense_Mutation_p.G3742S|RYR1_ENST00000359596.3_Missense_Mutation_p.G3742S NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 3742 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) AGGGGAGAACGGTGAAGCTGA 0.602000 15 43 0 0 1 0 0 TFB2M 64216 broad.mit.edu 37 1 246704449 246704449 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:246704449C>A ENST00000366514.4 - 8 1260 c.1075G>T c.(1075-1077)Gat>Tat p.D359Y NM_022366.2 NP_071761.1 Q9H5Q4 TFB2M_HUMAN transcription factor B2, mitochondrial 359 positive regulation of transcription, DNA-dependent|transcription initiation from mitochondrial promoter mitochondrial nucleoid protein binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity|transcription cofactor activity p.D359N(1) breast(1)|endometrium(1)|kidney(12)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 28 all_cancers(71;4.25e-05)|all_epithelial(71;4.92e-06)|Ovarian(71;0.0254)|all_lung(81;0.0272)|Breast(184;0.0318)|Lung NSC(105;0.0376) OV - Ovarian serous cystadenocarcinoma(106;0.00358) ACTTTCTCATCCTCCTGTTTT 0.348000 12 33 1.61879e-10 2.04676e-10 1 1 0 ICAM5 7087 broad.mit.edu 37 19 10403740 10403740 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:10403740C>T ENST00000221980.4 + 6 1346 c.1283C>T c.(1282-1284)aCg>aTg p.T428M NM_003259.3 NP_003250.3 Q9UMF0 ICAM5_HUMAN intercellular adhesion molecule 5, telencephalin 428 Ig-like C2-type 5. cell-cell adhesion integral to plasma membrane breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06) CCAGAGCAGACGCTGCGCTGC 0.701000 16 102 0 0 1 0 0 EXT2 2132 broad.mit.edu 37 11 44129708 44129708 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:44129708G>T ENST00000395673.3 + 2 601 c.545G>T c.(544-546)cGg>cTg p.R182L EXT2_ENST00000529186.1_3'UTR|EXT2_ENST00000343631.3_Missense_Mutation_p.R149L|EXT2_ENST00000533608.1_Missense_Mutation_p.R149L|EXT2_ENST00000358681.4_Missense_Mutation_p.R149L NM_000401.3 NP_000392.3 Q93063 EXT2_HUMAN exostosin glycosyltransferase 2 149 glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 32 GACATCAACCGGGCCTGTCTG 0.512000 """Mis, N, F, S""" """exostoses, osteosarcoma""" Hereditary Multiple Exostoses 14 41 5.01169e-05 5.49156e-05 1 1 0 MBNL2 10150 broad.mit.edu 37 13 97999159 97999159 + Silent SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr13:97999159C>T ENST00000345429.6 + 5 1423 c.642C>T c.(640-642)acC>acT p.T214T MBNL2_ENST00000343600.4_Silent_p.T214T|MBNL2_ENST00000376673.3_Silent_p.T214T|MBNL2_ENST00000445661.2_Intron|MBNL2_ENST00000397601.1_Silent_p.T214T NM_144778.3 NP_659002.1 Q5VZF2 MBNL2_HUMAN muscleblind-like splicing regulator 2 214 mRNA processing|regulation of RNA splicing|RNA splicing cytoplasm|nucleus RNA binding|zinc ion binding endometrium(4)|large_intestine(4)|lung(7)|prostate(1)|skin(1) 17 all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) BRCA - Breast invasive adenocarcinoma(86;0.218) GTGACAACACCGTAACCGTTT 0.527000 6 144 0 0 1 0 0 SPATS2 65244 broad.mit.edu 37 12 49916602 49916602 + Silent SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr12:49916602G>A ENST00000553127.1 + 13 1590 c.1077G>A c.(1075-1077)gaG>gaA p.E359E SPATS2_ENST00000321898.6_Silent_p.E359E|SPATS2_ENST00000552918.1_Silent_p.E359E Q86XZ4 SPAS2_HUMAN spermatogenesis associated, serine-rich 2 359 cytoplasm breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|prostate(1)|urinary_tract(4) 21 GTGATGTAGAGACCCTAAAGA 0.458000 10 41 0 0 1 0 0 OR8K1 390157 broad.mit.edu 37 11 56113767 56113767 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:56113767C>A ENST00000279783.2 + 1 347 c.253C>A c.(253-255)Ccg>Acg p.P85T NM_001002907.1 NP_001002907.1 Q8NGG5 OR8K1_HUMAN olfactory receptor, family 8, subfamily K, member 1 85 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 33 Esophageal squamous(21;0.00448) TGTCATTGCCCCGAAGATGTT 0.403000 HNSCC(65;0.19) 32 99 9.17885e-22 1.37254e-21 1 1 0 SPATA31C1 441452 broad.mit.edu 37 9 90535252 90535252 + RNA SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr9:90535252G>T ENST00000602681.1 + 0 1156 AAGAACACCTGATGGAGCCTC 0.577000 48 127 2.81731e-22 4.22973e-22 1 1 0 ALMS1 7840 broad.mit.edu 37 2 73677495 73677495 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr2:73677495G>T ENST00000264448.6 + 8 3949 c.3838G>T c.(3838-3840)Gta>Tta p.V1280L ALMS1_ENST00000377715.1_Missense_Mutation_p.V1280L|ALMS1_ENST00000409009.1_Missense_Mutation_p.V1238L NM_015120.4 NP_055935.4 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 1280 34 X 47 AA approximate tandem repeat. G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 147 CACACCAGCTGTAACCTCTAC 0.438000 45 93 7.88023e-25 1.20404e-24 1 1 0 OR51Q1 390061 broad.mit.edu 37 11 5443456 5443456 + Missense_Mutation SNP A A T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:5443456A>T ENST00000300778.4 + 1 116 c.26A>T c.(25-27)cAa>cTa p.Q9L HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron NM_001004757.2 NP_001004757.1 Q8NH59 O51Q1_HUMAN olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene) 9 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2) 37 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) AACACCACACAAGAAGGCATC 0.458000 43 101 0 0 1 0 0 GALNT2 2590 broad.mit.edu 37 1 230381893 230381893 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:230381893G>T ENST00000366672.4 + 8 886 c.814G>T c.(814-816)Ggc>Tgc p.G272C GALNT2_ENST00000543760.1_Missense_Mutation_p.G234C|GALNT2_ENST00000541865.1_Missense_Mutation_p.G182C NM_004481.3 NP_004472.1 Q10471 GALT2_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2) 272 immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2) 32 Breast(184;0.193)|Ovarian(103;0.249) all_cancers(173;0.156)|Prostate(94;0.179) TGACTTGAAGGGCGGTAGGTG 0.507000 8 86 0.000157383 0.000170454 1 1 0 FBXW12 285231 broad.mit.edu 37 3 48423486 48423486 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr3:48423486C>A ENST00000296438.5 + 10 1392 c.1206C>A c.(1204-1206)caC>caA p.H402Q FBXW12_ENST00000445170.1_Missense_Mutation_p.H383Q|FBXW12_ENST00000436231.1_Missense_Mutation_p.H245Q|FBXW12_ENST00000415155.1_Missense_Mutation_p.H332Q|FBXW12_ENST00000468158.1_3'UTR NM_207102.2 NP_996985.2 Q6X9E4 FBW12_HUMAN F-box and WD repeat domain containing 12 402 breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) ACTCTGTGCACGTGTACATGT 0.517000 31 45 7.11191e-15 9.81058e-15 1 1 0 VSIG1 340547 broad.mit.edu 37 X 107319357 107319357 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chrX:107319357G>A ENST00000415430.3 + 7 1008 c.847G>A c.(847-849)Gcc>Acc p.A283T VSIG1_ENST00000217957.5_Missense_Mutation_p.A247T NM_001170553.1 NP_001164024.1 Q86XK7 VSIG1_HUMAN V-set and immunoglobulin domain containing 1 247 integral to membrane breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 17 CCTGGTAGGTGCCGCCATCAT 0.423000 26 105 0 0 1 0 0 UBASH3B 84959 broad.mit.edu 37 11 122650348 122650348 + Silent SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:122650348G>A ENST00000284273.5 + 4 921 c.546G>A c.(544-546)gcG>gcA p.A182A NM_032873.4 NP_116262.2 Q8TF42 UBS3B_HUMAN ubiquitin associated and SH3 domain containing B 182 cytoplasm|nucleus protein tyrosine phosphatase activity breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2) 26 Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104) BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463) AAGACAGTGCGGAGGTCCTCA 0.562000 30 129 0 0 1 0 0 RAP1GAP2 23108 broad.mit.edu 37 17 2901670 2901670 + Splice_Site SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr17:2901670G>T ENST00000254695.8 + 14 1290 c.1200_splice c.e14+1 p.K400_splice RAP1GAP2_ENST00000542807.1_Splice_Site_p.K400_splice|RAP1GAP2_ENST00000540393.2_Splice_Site_p.K381_splice|RAP1GAP2_ENST00000366401.4_Splice_Site_p.K385_splice NM_015085.4 NP_055900.4 Q684P5 RPGP2_HUMAN RAP1 GTPase activating protein 2 400 Rap-GAP. regulation of small GTPase mediated signal transduction centrosome|cytosol|perinuclear region of cytoplasm GTPase activator activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 11 CATCCTACAAGGTAAGGAGAA 0.537000 24 20 3.28513e-13 4.36008e-13 1 1 0 EVC2 132884 broad.mit.edu 37 4 5624405 5624405 + Missense_Mutation SNP C C G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr4:5624405C>G ENST00000310917.2 - 14 2851 c.2120G>C c.(2119-2121)cGg>cCg p.R707P EVC2_ENST00000344938.1_Missense_Mutation_p.R787P|EVC2_ENST00000344408.5_Missense_Mutation_p.R787P NM_001166136.1 NP_001159608.1 Q86UK5 LBN_HUMAN Ellis van Creveld syndrome 2 787 integral to membrane NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 81 CTGCTCGGCCCGTGCAGCCAT 0.647000 15 33 0 0 1 0 0 WDR17 116966 broad.mit.edu 37 4 177083284 177083284 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr4:177083284G>T ENST00000393643.2 + 21 3061 c.2809G>T c.(2809-2811)Gta>Tta p.V937L WDR17_ENST00000508596.1_Missense_Mutation_p.V937L|WDR17_ENST00000280190.4_Missense_Mutation_p.V961L|WDR17_ENST00000507824.2_Missense_Mutation_p.V944L NM_170710.4 NP_733828.2 Q8IZU2 WDR17_HUMAN WD repeat domain 17 961 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 92 Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232) TGGTCGAGCAGTACTAGCCGC 0.343000 3 46 0.115264 0.116511 1 1 0 COL2A1 1280 broad.mit.edu 37 12 48386708 48386708 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr12:48386708G>A ENST00000380518.3 - 16 1140 c.976C>T c.(976-978)Cgt>Tgt p.R326C COL2A1_ENST00000337299.6_Missense_Mutation_p.R257C NM_001844.4|NM_033150.2 NP_001835.3|NP_149162.2 P02458 CO2A1_HUMAN collagen, type II, alpha 1 326 Triple-helical region. axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception collagen type II identical protein binding|platelet-derived growth factor binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3) 64 Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214) Collagenase(DB00048) GGCAGGCCACGAGGACCCTGG 0.557000 10 31 0 0 1 0 0 CACNA1E 777 broad.mit.edu 37 1 181727100 181727100 + Silent SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:181727100C>T ENST00000526775.1 + 30 4455 c.4290C>T c.(4288-4290)ttC>ttT p.F1430F CACNA1E_ENST00000367573.2_Silent_p.F1449F|CACNA1E_ENST00000367567.4_Silent_p.F1056F|CACNA1E_ENST00000357570.5_Silent_p.F1400F|CACNA1E_ENST00000367570.1_Silent_p.F1449F|CACNA1E_ENST00000358338.5_Silent_p.F1381F|CACNA1E_ENST00000360108.3_Silent_p.F1430F NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 1449 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity p.F1449F(1) NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 GCATCGACTTCGCCATCAGCG 0.522000 15 139 0 0 1 0 0 ZFP37 7539 broad.mit.edu 37 9 115818903 115818903 + Silent SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr9:115818903C>T ENST00000374227.3 - 1 93 c.66G>A c.(64-66)gcG>gcA p.A22A ZFP37_ENST00000555206.1_Silent_p.A22A|ZFP37_ENST00000553380.1_Silent_p.A22A Q9Y6Q3 ZFP37_HUMAN ZFP37 zinc finger protein 22 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 38 TGGTCGTTTCCGCACTTCTCC 0.662000 35 161 0 0 1 0 0 COL5A3 50509 broad.mit.edu 37 19 10088272 10088272 + Silent SNP G G T rs143655167 TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:10088272G>T ENST00000264828.3 - 42 3209 c.3124C>A c.(3124-3126)Cgg>Agg p.R1042R NM_015719.3 NP_056534.2 P25940 CO5A3_HUMAN collagen, type V, alpha 3 1042 Triple-helical region. R -> P (in dbSNP:rs2161468). collagen fibril organization|skin development collagen type V collagen binding|extracellular matrix structural constituent NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 116 Epithelial(33;7.11e-05) TCACTTACCCGGGACCCCTTC 0.642000 5 20 3.59834e-05 3.95641e-05 1 1 0 ACR 49 broad.mit.edu 37 22 51182634 51182634 + Splice_Site SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr22:51182634G>A ENST00000216139.5 + 4 751 c.711_splice c.e4+1 p.Q237_splice ACR_ENST00000527761.1_3'UTR NM_001097.2 NP_001088.2 P10323 ACRO_HUMAN acrosin 237 Peptidase S1. acrosome matrix dispersal|activation of adenylate cyclase activity acrosomal matrix|protein complex amidase activity|copper ion binding|DNA binding|drug binding|fucose binding|mannose binding|protein binding|serine-type endopeptidase activity|zinc ion binding endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|skin(1) 7 all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;1.1e-06)|LUAD - Lung adenocarcinoma(64;0.247) ACACCTGCCAGGTAACCTTCC 0.587000 17 40 0 0 1 0 0 SRRM2 23524 broad.mit.edu 37 16 2814774 2814774 + Silent SNP G G A rs145082336 byFrequency TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr16:2814774G>A ENST00000301740.8 + 11 4794 c.4245G>A c.(4243-4245)tcG>tcA p.S1415S NM_016333.3 NP_057417.3 Q9UQ35 SRRM2_HUMAN serine/arginine repetitive matrix 2 1415 Ser-rich. Cajal body|catalytic step 2 spliceosome|nuclear speck C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7) 105 GAACACCCTCGAGAGAAAGAA 0.478000 108 147 0 0 1 0 0 TMEM132E 124842 broad.mit.edu 37 17 32954025 32954025 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr17:32954025C>A ENST00000321639.5 + 3 1005 c.677C>A c.(676-678)gCc>gAc p.A226D NM_207313.1 NP_997196.1 Q6IEE7 T132E_HUMAN transmembrane protein 132E 226 integral to membrane breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 57 BRCA - Breast invasive adenocarcinoma(366;0.231) CTCTATCTGGCCCCCAACTCC 0.612000 18 79 0.000132079 0.000143812 1 1 0 ZNF462 58499 broad.mit.edu 37 9 109686887 109686887 + Missense_Mutation SNP A A G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr9:109686887A>G ENST00000277225.5 + 3 983 c.694A>G c.(694-696)Atg>Gtg p.M232V ZNF462_ENST00000457913.1_Missense_Mutation_p.M232V Q96JM2 ZN462_HUMAN zinc finger protein 462 232 transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 CTTAGAGTCTATGGTCAAGCC 0.557000 20 43 0 0 1 0 0 GPR149 344758 broad.mit.edu 37 3 154139017 154139017 + Silent SNP A A G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr3:154139017A>G ENST00000389740.2 - 3 1533 c.1434T>C c.(1432-1434)atT>atC p.I478I NM_001038705.1 NP_001033794.1 Q86SP6 GP149_HUMAN G protein-coupled receptor 149 478 integral to membrane|plasma membrane G-protein coupled receptor activity autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2) 47 LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173) TAGCTTCTGTAATATCAGTAT 0.403000 54 114 0 0 1 0 0 RCOR3 55758 broad.mit.edu 37 1 211452578 211452578 + Splice_Site SNP A A T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:211452578A>T ENST00000367005.4 + 6 608 c.e6-1 RCOR3_ENST00000367006.4_Splice_Site|RCOR3_ENST00000419091.2_Splice_Site|RCOR3_ENST00000452621.2_Splice_Site NM_018254.3 NP_060724.1 Q9P2K3 RCOR3_HUMAN REST corepressor 3 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(81;0.00961)|all cancers(67;0.0999)|Epithelial(68;0.171) GTTTCTTCTCAGTGATGATGA 0.353000 15 37 0 0 1 0 0 FEZ1 9638 broad.mit.edu 37 11 125351440 125351440 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:125351440G>T ENST00000278919.3 - 3 635 c.401C>A c.(400-402)tCt>tAt p.S134Y FEZ1_ENST00000527350.1_5'UTR NM_005103.4 NP_005094.1 Q99689 FEZ1_HUMAN fasciculation and elongation protein zeta 1 (zygin I) 134 axon guidance|cell adhesion|transport microtubule|plasma membrane breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(1) 24 all_hematologic(175;0.228) Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0934) CTCAGTGTCAGAGCAGTTGCC 0.473000 60 181 5.10508e-28 7.91341e-28 1 1 0 DYM 54808 broad.mit.edu 37 18 46889571 46889571 + Silent SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr18:46889571G>A ENST00000269445.6 - 6 911 c.454C>T c.(454-456)Ctg>Ttg p.L152L DYM_ENST00000578396.1_5'UTR|DYM_ENST00000442713.2_Intron NM_017653.3 NP_060123.3 Q7RTS9 DYM_HUMAN dymeclin 152 Golgi apparatus NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 18 AAACAGCACAGCAATTCTTCC 0.348000 15 50 0 0 1 0 0 SPATA16 83893 broad.mit.edu 37 3 172835428 172835428 + Missense_Mutation SNP A A T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr3:172835428A>T ENST00000351008.3 - 2 277 c.94T>A c.(94-96)Tcc>Acc p.S32T NM_031955.5 NP_114161.3 Q9BXB7 SPT16_HUMAN spermatogenesis associated 16 32 cell differentiation|multicellular organismal development|spermatogenesis Golgi apparatus binding breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 43 Ovarian(172;0.00319)|Breast(254;0.197) LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14) GCTAAGGTGGACATTTTCTTG 0.403000 7 211 0 0 1 0 0 ITIH6 347365 broad.mit.edu 37 X 54783747 54783747 + Silent SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chrX:54783747G>A ENST00000218436.6 - 8 2789 c.2760C>T c.(2758-2760)acC>acT p.T920T NM_198510.2 NP_940912.1 Q6UXX5 ITH5L_HUMAN inter-alpha-trypsin inhibitor heavy chain family, member 6 920 Poly-Thr.|Pro-rich. hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity CAAGGACAGAGGTGGTTGTGG 0.572000 14 58 0 0 1 0 0 GSPT2 23708 broad.mit.edu 37 X 51487925 51487925 + Missense_Mutation SNP G G C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chrX:51487925G>C ENST00000340438.4 + 1 1445 c.1203G>C c.(1201-1203)caG>caC p.Q401H NM_018094.4 NP_060564.2 Q8IYD1 ERF3B_HUMAN G1 to S phase transition 2 401 cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|translational termination cytoplasm GTP binding|GTPase activity|protein binding breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1) 20 Ovarian(276;0.236) TTAAAGAGCAGTCAGATTTCT 0.403000 12 57 0 0 1 0 0 SPECC1 92521 broad.mit.edu 37 17 20209366 20209366 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr17:20209366G>A ENST00000395530.2 + 12 3053 c.2845G>A c.(2845-2847)Gct>Act p.A949T SPECC1_ENST00000261503.5_Missense_Mutation_p.A1030T|AC004702.2_ENST00000580225.1_lincRNA|SPECC1_ENST00000395527.4_Missense_Mutation_p.A1030T|SPECC1_ENST00000536879.1_Missense_Mutation_p.A370T NM_001033555.2 NP_001028727.1 Q5M775 CYTSB_HUMAN sperm antigen with calponin homology and coiled-coil domains 1 1030 nucleus breast(1)|large_intestine(3)|ovary(4) 8 KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196) ATTTGAAGCGGCTGAAAGTGT 0.353000 23 54 0 0 1 0 0 RAP1GDS1 5910 broad.mit.edu 37 4 99325714 99325714 + Nonsense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr4:99325714G>T ENST00000408927.3 + 7 837 c.724G>T c.(724-726)Gaa>Taa p.E242* RAP1GDS1_ENST00000339360.5_Nonsense_Mutation_p.E243*|RAP1GDS1_ENST00000264572.7_Nonsense_Mutation_p.E151*|RAP1GDS1_ENST00000453712.2_Nonsense_Mutation_p.E243*|RAP1GDS1_ENST00000408900.3_Nonsense_Mutation_p.E193*|RAP1GDS1_ENST00000380158.4_Nonsense_Mutation_p.E194* NM_001100426.1|NM_001100427.1|NM_021159.4 NP_001093896.1|NP_001093897.1|NP_066982.3 P52306 GDS1_HUMAN RAP1, GTP-GDP dissociation stimulator 1 242 binding|GTPase activator activity breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1) 28 OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576) TGATAAGAGAGAAATGATTTT 0.313000 T NUP98 T-ALL 19 40 1.01871e-10 1.29314e-10 1 1 0 CYP3A4 1576 broad.mit.edu 37 7 99361602 99361602 + Missense_Mutation SNP A A G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr7:99361602A>G ENST00000354593.2 - 5 555 c.452T>C c.(451-453)aTc>aCc p.I151T CYP3A4_ENST00000336411.2_Missense_Mutation_p.I301T P08684 CP3A4_HUMAN cytochrome P450, family 3, subfamily A, polypeptide 4 301 alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process cell surface|endoplasmic reticulum membrane|integral to membrane|microsome albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2) 18 Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228) Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909) AAAAATAAAGATAATTGATTG 0.443000 33 40 0 0 1 0 0 KRTAP4-9 100132386 broad.mit.edu 37 17 39261990 39261990 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr17:39261990C>A ENST00000391415.1 + 1 407 c.350C>A c.(349-351)cCt>cAt p.P117H NM_001146041.1 NP_001139513.1 Q9BYQ8 KRA49_HUMAN keratin associated protein 4-9 117 29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP]. keratin filament central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3) 14 TGCTGCCACCCTAGGtgctgc 0.652000 11 29 0.00010058 0.000109621 1 1 0 OR10P1 121130 broad.mit.edu 37 12 56030945 56030945 + Silent SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr12:56030945C>T ENST00000309675.2 + 1 302 c.270C>T c.(268-270)ccC>ccT p.P90P NM_206899.1 NP_996782.1 Q8NGE3 O10P1_HUMAN olfactory receptor, family 10, subfamily P, member 1 90 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 26 CCCCGCATCCCCAGGCCATCT 0.602000 29 54 0 0 1 0 0 PNMAL1 55228 broad.mit.edu 37 19 46974154 46974154 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:46974154G>T ENST00000313683.10 - 2 444 c.139C>A c.(139-141)Ctc>Atc p.L47I PNMAL1_ENST00000602246.1_Missense_Mutation_p.L47I|PNMAL1_ENST00000438932.2_Missense_Mutation_p.L47I NM_001103149.1|NM_018215.3 NP_001096619.1|NP_060685.2 Q86V59 PNML1_HUMAN paraneoplastic Ma antigen family-like 1 47 cervix(1)|endometrium(2)|large_intestine(8)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 Ovarian(192;0.00965)|all_neural(266;0.0459) OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427) agtggggagaggaccccattc 0.537000 13 35 5.50884e-06 6.18744e-06 1 1 0 TERT 7015 broad.mit.edu 37 5 1294342 1294342 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr5:1294342C>A ENST00000310581.5 - 2 716 c.659G>T c.(658-660)gGt>gTt p.G220V TERT_ENST00000508104.2_Missense_Mutation_p.G220V|TERT_ENST00000296820.5_Missense_Mutation_p.G220V|TERT_ENST00000334602.6_Missense_Mutation_p.G220V NM_001193376.1|NM_198253.2 NP_001180305.1|NP_937983.2 O14746 TERT_HUMAN telomerase reverse transcriptase 220 RNA-interacting domain 1. anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase cytoplasm|nucleolus|PML body|telomerase holoenzyme complex protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 41 all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10) Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) CCTCCTCGCACCCGGGGCTGG 0.741000 TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis 9 34 7.48243e-07 8.66895e-07 1 1 0 HRNR 388697 broad.mit.edu 37 1 152187486 152187486 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:152187486G>A ENST00000368801.2 - 3 6694 c.6619C>T c.(6619-6621)Cgt>Tgt p.R2207C FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 2207 keratinization calcium ion binding|protein binding p.R2207C(1) autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTGGAAGAACGACCTGAGCCA 0.602000 29 664 0 0 1 0 0 SRCAP 10847 broad.mit.edu 37 16 30750299 30750299 + Missense_Mutation SNP C C G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr16:30750299C>G ENST00000262518.4 + 34 9323 c.8938C>G c.(8938-8940)Cca>Gca p.P2980A SRCAP_ENST00000344771.4_Missense_Mutation_p.P2822A|SRCAP_ENST00000395059.2_Missense_Mutation_p.P2918A NM_006662.2 NP_006653.2 Q6ZRS2 SRCAP_HUMAN Snf2-related CREBBP activator protein 2980 Pro-rich. interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 136 Colorectal(24;0.198) CCCACTCCCACCACTGCTAGT 0.577000 4 92 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237780625 237780625 + Missense_Mutation SNP C C G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:237780625C>G ENST00000366574.2 + 38 6072 c.5755C>G c.(5755-5757)Cgg>Ggg p.R1919G RYR2_ENST00000360064.6_Missense_Mutation_p.R1917G|RYR2_ENST00000542537.1_Missense_Mutation_p.R1903G NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 1919 4 X approximate repeats. 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 p.R1917W(2) 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) CTGCCAGGTCCGGCACCGGAT 0.403000 10 26 0 0 1 0 0 TMC4 147798 broad.mit.edu 37 19 54673269 54673269 + Nonsense_Mutation SNP C C T rs147493600 TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:54673269C>T ENST00000376591.4 - 3 572 c.441G>A c.(439-441)tgG>tgA p.W147* TMC4_ENST00000476013.2_5'UTR|TMC4_ENST00000301187.4_Nonsense_Mutation_p.W141* NM_001145303.1|NM_144686.2 NP_001138775.1|NP_653287.1 Q7Z404 TMC4_HUMAN transmembrane channel-like 4 147 integral to membrane breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1) 22 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) TCTTCAGTGTCCACGCCCAGG 0.642000 9 63 0 0 1 0 0 ZYG11B 79699 broad.mit.edu 37 1 53262032 53262032 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:53262032C>T ENST00000294353.6 + 7 1548 c.1403C>T c.(1402-1404)gCa>gTa p.A468V ZYG11B_ENST00000443756.2_Missense_Mutation_p.A468V|ZYG11B_ENST00000545132.1_Missense_Mutation_p.A468V NM_024646.2 NP_078922.1 Q9C0D3 ZY11B_HUMAN zyg-11 family member B, cell cycle regulator 468 protein binding breast(1)|endometrium(1)|kidney(6)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 30 CAAAGGATGGCAGTTGCTATC 0.418000 8 35 0 0 1 0 0 DCAF4L2 138009 broad.mit.edu 37 8 88885536 88885536 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr8:88885536C>A ENST00000319675.3 - 1 760 c.664G>T c.(664-666)Ggg>Tgg p.G222W NM_152418.3 NP_689631.1 Q8NA75 DC4L2_HUMAN DDB1 and CUL4 associated factor 4-like 2 222 breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 83 CTGCTAGTCCCAAATGACTGC 0.532000 28 109 9.39395e-14 1.26626e-13 1 1 0 NLRP3 114548 broad.mit.edu 37 1 247592996 247592996 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:247592996C>A ENST00000366497.2 + 5 3046 c.2266C>A c.(2266-2268)Cca>Aca p.P756T NLRP3_ENST00000336119.3_Missense_Mutation_p.P756T|NLRP3_ENST00000391828.3_Missense_Mutation_p.P756T|NLRP3_ENST00000348069.2_Intron|NLRP3_ENST00000391827.2_Intron|NLRP3_ENST00000366496.2_Missense_Mutation_p.P756T NM_001127461.2 NP_001120933.1 Q96P20 NALP3_HUMAN NLR family, pyrin domain containing 3 813 detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 142 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) TCTGGGGGACCCAGGGATGAG 0.527000 21 78 8.10497e-08 9.62385e-08 1 1 0 LAX1 54900 broad.mit.edu 37 1 203743258 203743258 + Missense_Mutation SNP C C G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:203743258C>G ENST00000442561.2 + 5 1036 c.646C>G c.(646-648)Ctc>Gtc p.L216V LAX1_ENST00000367217.5_Missense_Mutation_p.L200V|LAX1_ENST00000367215.1_3'UTR NM_017773.3 NP_060243.2 Q8IWV1 LAX1_HUMAN lymphocyte transmembrane adaptor 1 216 B cell activation|immune response|inactivation of MAPK activity|intracellular signal transduction|negative regulation of T cell activation Golgi apparatus|integral to membrane|plasma membrane protein kinase binding|SH2 domain binding central_nervous_system(2)|endometrium(3)|large_intestine(2)|lung(13)|prostate(1)|stomach(1)|urinary_tract(2) 24 all_cancers(21;0.0915) BRCA - Breast invasive adenocarcinoma(75;0.109) TTCCAGAAATCTCTTTGTTCT 0.478000 7 59 0 0 1 0 0 GRM3 2913 broad.mit.edu 37 7 86415817 86415817 + Missense_Mutation SNP C C A rs112122758 TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr7:86415817C>A ENST00000361669.2 + 3 1808 c.709C>A c.(709-711)Cgc>Agc p.R237S AC005009.2_ENST00000418031.1_RNA|GRM3_ENST00000439827.1_Missense_Mutation_p.R237S|GRM3_ENST00000546348.1_Intron|AC005009.2_ENST00000452471.1_RNA|GRM3_ENST00000394720.2_Missense_Mutation_p.R235S|GRM3_ENST00000536043.1_Missense_Mutation_p.R109S NM_000840.2 NP_000831.2 Q14832 GRM3_HUMAN glutamate receptor, metabotropic 3 237 synaptic transmission integral to plasma membrane NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5) 109 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) AGCCCGCCTGCGCAACATCTG 0.607000 39 39 7.53189e-24 1.14614e-23 1 1 0 FSD2 123722 broad.mit.edu 37 15 83447540 83447540 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr15:83447540C>A ENST00000334574.8 - 6 1270 c.1089G>T c.(1087-1089)atG>atT p.M363I FSD2_ENST00000541889.1_Missense_Mutation_p.M363I A1L4K1 FSD2_HUMAN fibronectin type III and SPRY domain containing 2 363 breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10) 18 TAATGGAGCCCATCAGCTGCT 0.473000 11 12 1.58986e-06 1.82314e-06 1 1 0 KCNAB2 8514 broad.mit.edu 37 1 6147535 6147535 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:6147535G>T ENST00000164247.1 + 8 899 c.335G>T c.(334-336)aGc>aTc p.S112I KCNAB2_ENST00000352527.1_Missense_Mutation_p.S98I|KCNAB2_ENST00000378111.1_Intron|KCNAB2_ENST00000602612.1_Missense_Mutation_p.S112I|KCNAB2_ENST00000341524.1_Missense_Mutation_p.S112I|KCNAB2_ENST00000378083.3_Missense_Mutation_p.S145I|KCNAB2_ENST00000378097.1_Missense_Mutation_p.S112I|KCNAB2_ENST00000458166.2_Missense_Mutation_p.S45I|KCNAB2_ENST00000378087.3_Intron|KCNAB2_ENST00000378092.1_Missense_Mutation_p.S98I NM_001199860.1 NP_001186789.1 Q13303 KCAB2_HUMAN potassium voltage-gated channel, shaker-related subfamily, beta member 2 112 cytoplasm|integral to membrane|juxtaparanode region of axon oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity large_intestine(1)|lung(4)|skin(3) 8 Ovarian(185;0.0634) all_cancers(23;5.85e-39)|all_epithelial(116;4.88e-22)|all_lung(118;4.21e-08)|Lung NSC(185;9.77e-07)|all_hematologic(16;2.78e-06)|all_neural(13;3.18e-06)|Acute lymphoblastic leukemia(12;0.000272)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00106)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211) Epithelial(90;6.9e-37)|GBM - Glioblastoma multiforme(13;8.8e-31)|OV - Ovarian serous cystadenocarcinoma(86;1.45e-19)|Colorectal(212;2.46e-07)|COAD - Colon adenocarcinoma(227;2.07e-05)|Kidney(185;7.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00131)|BRCA - Breast invasive adenocarcinoma(365;0.00133)|STAD - Stomach adenocarcinoma(132;0.00391)|READ - Rectum adenocarcinoma(331;0.0649) AGGCGGTCCAGCCTCGTCATC 0.632000 31 63 4.02929e-09 4.91981e-09 1 1 0 KRBA1 84626 broad.mit.edu 37 7 149426299 149426299 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr7:149426299G>A ENST00000255992.10 + 13 2047 c.1648G>A c.(1648-1650)Gag>Aag p.E550K KRBA1_ENST00000479560.1_3'UTR|KRBA1_ENST00000485033.2_Intron|KRBA1_ENST00000319551.8_Intron NM_032534.2 NP_115923.2 A5PL33 KRBA1_HUMAN KRAB-A domain containing 1 550 breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1) 27 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) TGAGGCCTGCGAGTCAGCCGT 0.632000 5 24 0 0 1 0 0 KLHDC4 54758 broad.mit.edu 37 16 87743023 87743023 + Missense_Mutation SNP C C G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr16:87743023C>G ENST00000270583.5 - 10 1353 c.1295G>C c.(1294-1296)cGc>cCc p.R432P KLHDC4_ENST00000347925.5_Missense_Mutation_p.R401P|KLHDC4_ENST00000353170.5_Missense_Mutation_p.R375P|KLHDC4_ENST00000566349.1_5'UTR NM_017566.3 NP_060036.2 Q8TBB5 KLDC4_HUMAN kelch domain containing 4 432 breast(2)|endometrium(3)|lung(10)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2) 21 BRCA - Breast invasive adenocarcinoma(80;0.0283) GGCGTTGGAGCGTGGACACGG 0.687000 35 42 0 0 1 0 0 LILRB4 11006 broad.mit.edu 37 19 55174488 55174488 + Translation_Start_Site SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:55174488G>A ENST00000391736.1 + 3 318 c.3G>A c.(1-3)atG>atA p.M1I LILRB4_ENST00000270452.2_Start_Codon_SNP_p.M1I|LILRB4_ENST00000391734.3_Start_Codon_SNP_p.M1I|LILRB4_ENST00000391733.3_Start_Codon_SNP_p.M1I|LILRB4_ENST00000430952.2_Start_Codon_SNP_p.M1I NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2 NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1 Q8NHJ6 LIRB4_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4 1 integral to membrane|plasma membrane antigen binding|receptor activity breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3) 39 GBM - Glioblastoma multiforme(193;0.035) GAGACGCCATGATCCCCACCT 0.617000 OREG0003670 type=REGULATORY REGION|Gene=LILRB4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 22 63 0 0 1 0 0 CD300LD 100131439 broad.mit.edu 37 17 72578396 72578396 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr17:72578396G>T ENST00000375352.1 - 3 514 c.434C>A c.(433-435)aCa>aAa p.T145K NM_001115152.1 NP_001108624.1 Q6UXZ3 CLM4_HUMAN CD300 molecule-like family member d 145 integral to membrane|plasma membrane receptor activity large_intestine(1)|lung(2)|prostate(1)|stomach(1) 5 GGCTGCAGCTGTGAAAGCCAG 0.577000 10 94 2.10051e-16 2.97439e-16 1 1 0 USP49 25862 broad.mit.edu 37 6 41773703 41773703 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr6:41773703C>T ENST00000394253.3 - 3 1348 c.1019G>A c.(1018-1020)cGg>cAg p.R340Q USP49_ENST00000297229.2_Missense_Mutation_p.R340Q|USP49_ENST00000373009.3_Missense_Mutation_p.R340Q|USP49_ENST00000373006.1_Missense_Mutation_p.R340Q|USP49_ENST00000373010.1_Missense_Mutation_p.R340Q Q70CQ1 UBP49_HUMAN ubiquitin specific peptidase 49 340 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding p.R340Q(1) breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2) 23 Ovarian(28;0.0919)|Colorectal(47;0.121) STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) CTCCAGACTCCGACTAATGGA 0.597000 14 38 0 0 1 0 0 CLCN1 1180 broad.mit.edu 37 7 143044019 143044019 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr7:143044019G>T ENST00000343257.2 + 20 2467 c.2380G>T c.(2380-2382)Gtg>Ttg p.V794L NM_000083.2 NP_000074.2 P35523 CLCN1_HUMAN chloride channel, voltage-sensitive 1 794 muscle contraction chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 58 Melanoma(164;0.205) CACAGATTTAGTGGATAACAT 0.408000 51 52 1.70205e-38 2.73083e-38 1 1 0 KRTAP10-9 386676 broad.mit.edu 37 21 46047221 46047221 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr21:46047221C>A ENST00000397911.3 + 1 182 c.133C>A c.(133-135)Ctg>Atg p.L45M TSPEAR_ENST00000323084.4_Intron|KRTAP10-9_ENST00000484861.1_3'UTR NM_198690.2 NP_941963.2 P60411 KR109_HUMAN keratin associated protein 10-9 45 25 X 5 AA repeats of C-C-X(3). keratin filament endometrium(1)|kidney(1)|large_intestine(1)|lung(6) 9 CTGCCTGACCCTGGTCTGCAC 0.697000 35 97 4.39465e-27 6.78403e-27 1 1 0 CNOT4 4850 broad.mit.edu 37 7 135078972 135078972 + Missense_Mutation SNP T T G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr7:135078972T>G ENST00000428680.2 - 10 1595 c.1316A>C c.(1315-1317)cAc>cCc p.H439P CNOT4_ENST00000423368.2_Missense_Mutation_p.H442P|CNOT4_ENST00000451834.1_Missense_Mutation_p.H439P|CNOT4_ENST00000361528.4_Missense_Mutation_p.H439P|CNOT4_ENST00000541284.1_Missense_Mutation_p.H442P|CNOT4_ENST00000414802.1_Intron|CNOT4_ENST00000315544.5_Missense_Mutation_p.H442P|CNOT4_ENST00000356162.4_Intron NM_001008225.2 NP_001008226.1 O95628 CNOT4_HUMAN CCR4-NOT transcription complex, subunit 4 442 nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1) 22 GGTTGTAGTGTGTGAAGAGGA 0.498000 67 68 0 0 1 0 0 MYPN 84665 broad.mit.edu 37 10 69925568 69925568 + Silent SNP C C T rs138354021 TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr10:69925568C>T ENST00000358913.5 + 9 2081 c.1593C>T c.(1591-1593)caC>caT p.H531H MYPN_ENST00000354393.2_Silent_p.H256H|MYPN_ENST00000540630.1_Silent_p.H531H NM_001256267.1|NM_032578.3 NP_001243196.1|NP_115967.2 Q86TC9 MYPN_HUMAN myopalladin 531 Ig-like 2. nucleus|sarcomere actin binding breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5) 94 CACAGCTGCACGTGAGAGGTA 0.433000 17 65 0 0 1 0 0 IL21R 50615 broad.mit.edu 37 16 27460310 27460310 + Silent SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr16:27460310C>A ENST00000337929.3 + 9 1796 c.1323C>A c.(1321-1323)ccC>ccA p.P441P IL21R_ENST00000395755.1_Silent_p.P441P|IL21R_ENST00000395754.4_Silent_p.P441P|IL21R-AS1_ENST00000563191.1_RNA|IL21R_ENST00000564089.1_Silent_p.P441P NM_181078.2 NP_851564.1 Q9HBE5 IL21R_HUMAN interleukin 21 receptor 441 natural killer cell activation integral to membrane interleukin-21 receptor activity breast(2)|large_intestine(3)|lung(1)|ovary(2) 8 TAGGAGGGCCCCTGGGAAGCC 0.667000 T BCL6 NHL 44 49 1.61004e-24 2.45835e-24 1 1 0 FLG 2312 broad.mit.edu 37 1 152277995 152277995 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:152277995C>T ENST00000368799.1 - 3 9402 c.9367G>A c.(9367-9369)Ggg>Agg p.G3123R FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 3123 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TGGTGGTACCCCTGCCTTCCT 0.607000 Ichthyosis 6 327 0 0 1 0 0 STK31 56164 broad.mit.edu 37 7 23809339 23809339 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr7:23809339G>T ENST00000354639.3 + 13 2072 c.1608G>T c.(1606-1608)gaG>gaT p.E536D STK31_ENST00000355870.3_Missense_Mutation_p.E559D|STK31_ENST00000433467.2_Missense_Mutation_p.E559D|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000428484.1_Missense_Mutation_p.E536D NM_001260504.1|NM_032944.3 NP_001247433.1|NP_116562.2 Q9BXU1 STK31_HUMAN serine/threonine kinase 31 559 ATP binding|nucleic acid binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 AGAAGACTGAGTCAAGTGTCT 0.383000 66 79 7.73544e-29 1.2049e-28 1 1 0 TP73 7161 broad.mit.edu 37 1 3638723 3638723 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:3638723G>T ENST00000378295.4 + 5 723 c.568G>T c.(568-570)Gtc>Ttc p.V190F TP73_ENST00000603362.1_Missense_Mutation_p.V190F|TP73_ENST00000604074.1_Missense_Mutation_p.V190F|TP73_ENST00000378280.1_Missense_Mutation_p.V141F|TP73_ENST00000354437.4_Missense_Mutation_p.V190F|TP73_ENST00000357733.3_Missense_Mutation_p.V190F|TP73_ENST00000378288.4_Missense_Mutation_p.V141F|TP73_ENST00000378285.1_Missense_Mutation_p.V141F|TP73_ENST00000346387.4_Missense_Mutation_p.V190F|TP73_ENST00000378290.4_Missense_Mutation_p.V119F|TP73_ENST00000604479.1_Missense_Mutation_p.V190F NM_001204185.1|NM_005427.3 NP_001191114.1|NP_005418.1 O15350 P73_HUMAN tumor protein p73 190 DNA-binding (Potential). cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mismatch repair|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of JUN kinase activity|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|protein tetramerization|response to gamma radiation|response to X-ray chromatin|cytosol|transcription factor complex chromatin binding|damaged DNA binding|double-stranded DNA binding|metal ion binding|p53 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|transcription repressor activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|lung(8)|ovary(1)|prostate(1) 20 all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198) all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127) Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226) CGTGACCGACGTCGTGAAACG 0.647000 19 38 2.39187e-15 3.32503e-15 1 1 0 DPPA3 359787 broad.mit.edu 37 12 7864238 7864238 + Silent SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr12:7864238G>T ENST00000345088.2 + 1 189 c.72G>T c.(70-72)cgG>cgT p.R24R NM_199286.2 NP_954980.1 Q6W0C5 DPPA3_HUMAN developmental pluripotency associated 3 24 cytoplasm|nucleus endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2) 8 Kidney(36;0.0887) AAAATTCCCGGGACGATTCAG 0.453000 13 24 5.50884e-06 6.18744e-06 1 1 0 ITGBL1 9358 broad.mit.edu 37 13 102235704 102235704 + Nonsense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr13:102235704C>A ENST00000376180.3 + 6 1085 c.866C>A c.(865-867)tCa>tAa p.S289* ITGBL1_ENST00000376162.3_Nonsense_Mutation_p.S196*|ITGBL1_ENST00000545560.2_Nonsense_Mutation_p.S148* NM_001271756.1|NM_004791.1 NP_001258685.1|NP_004782.1 O95965 ITGBL_HUMAN integrin, beta-like 1 (with EGF-like repeat domains) 289 Cysteine-rich tandem repeats. cell-matrix adhesion|integrin-mediated signaling pathway extracellular region|integrin complex binding|receptor activity breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3) 31 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) GACTTCTGTTCAGGTAAGGGC 0.433000 25 121 4.59853e-10 5.75907e-10 1 1 0 PCDHGA12 26025 broad.mit.edu 37 5 140812476 140812476 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr5:140812476G>T ENST00000252085.3 + 1 2292 c.2150G>T c.(2149-2151)cGg>cTg p.R717L PCDHGB7_ENST00000398594.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron NM_003735.2|NM_032094.1 NP_003726.1|NP_115265.1 breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 58 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTCAGGCTGCGGCGCTGGCAC 0.652000 55 75 3.81248e-40 6.13442e-40 1 1 0 CPNE4 131034 broad.mit.edu 37 3 131271328 131271328 + Missense_Mutation SNP T T C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr3:131271328T>C ENST00000512055.1 - 17 3250 c.1124A>G c.(1123-1125)cAt>cGt p.H375R CPNE4_ENST00000512332.1_Missense_Mutation_p.H393R|CPNE4_ENST00000511604.1_Missense_Mutation_p.H375R|CPNE4_ENST00000429747.1_Missense_Mutation_p.H375R|CPNE4_ENST00000502818.1_Missense_Mutation_p.H393R Q96A23 CPNE4_HUMAN copine IV 375 VWFA. central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 39 TGCAAAGTCATGAGAGACCTA 0.393000 12 63 0 0 1 0 0 ECD 11319 broad.mit.edu 37 10 74912076 74912076 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr10:74912076C>A ENST00000372979.4 - 7 1093 c.887G>T c.(886-888)cGa>cTa p.R296L ECD_ENST00000454759.1_Intron|ECD_ENST00000430082.1_Missense_Mutation_p.R296L NM_007265.2 NP_009196.1 O95905 SGT1_HUMAN ecdysoneless homolog (Drosophila) 296 regulation of glycolysis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleus transcription coactivator activity breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Prostate(51;0.0119) TTCATGGGCTCGGTACTGGGG 0.423000 20 61 2.70639e-06 3.06898e-06 1 1 0 CACNA1D 776 broad.mit.edu 37 3 53531424 53531424 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr3:53531424G>A ENST00000288139.3 + 2 431 c.313G>A c.(313-315)Gcc>Acc p.A105T CACNA1D_ENST00000350061.5_Missense_Mutation_p.A105T|CACNA1D_ENST00000422281.2_Missense_Mutation_p.A105T NM_000720.2 NP_000711.1 Q01668 CAC1D_HUMAN calcium channel, voltage-dependent, L type, alpha 1D subunit 105 axon guidance|energy reserve metabolic process|regulation of insulin secretion voltage-gated calcium channel complex voltage-gated calcium channel activity p.A105T(4) breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 90 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) Verapamil(DB00661) ACCTGCCCGCGCCCTTTTCTG 0.478000 18 75 0 0 1 0 0 F13A1 2162 broad.mit.edu 37 6 6225019 6225019 + Silent SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr6:6225019C>T ENST00000264870.3 - 7 1138 c.873G>A c.(871-873)tcG>tcA p.S291S NM_000129.3 NP_000120.2 P00488 F13A_HUMAN coagulation factor XIII, A1 polypeptide 291 peptide cross-linking|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 62 Ovarian(93;0.0816) all_hematologic(90;0.152) L-Glutamine(DB00130) CAGTCCAGGCCGATGGGGGGA 0.498000 27 83 0 0 1 0 0 SUCO 51430 broad.mit.edu 37 1 172520659 172520659 + Missense_Mutation SNP A A T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:172520659A>T ENST00000367723.3 + 3 782 c.658A>T c.(658-660)Agc>Tgc p.S220C SUCO_ENST00000263688.3_Missense_Mutation_p.S24C NM_016227.2 NP_057311.2 SUN domain containing ossification factor CAGGCTTCCCAGCTGGCGTGT 0.393000 12 38 0 0 1 0 0 GUCY1B3 2983 broad.mit.edu 37 4 156725880 156725880 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr4:156725880G>T ENST00000264424.8 + 12 1772 c.1690G>T c.(1690-1692)Gtg>Ttg p.V564L GUCY1B3_ENST00000502959.1_Missense_Mutation_p.V586L|GUCY1B3_ENST00000503520.1_Missense_Mutation_p.V531L|GUCY1B3_ENST00000505154.1_Missense_Mutation_p.V496L|GUCY1B3_ENST00000505764.1_Missense_Mutation_p.V544L|GUCY1B3_ENST00000507146.1_Missense_Mutation_p.V539L|GUCY1B3_ENST00000513437.1_Missense_Mutation_p.V496L NM_000857.2 NP_000848.1 Q02153 GCYB1_HUMAN guanylate cyclase 1, soluble, beta 3 564 blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation guanylate cyclase complex, soluble|intracellular membrane-bounded organelle GTP binding|guanylate cyclase activity|receptor activity NS(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.148) AAAAATAAATGTGTCTGAATA 0.388000 13 26 4.36969e-10 5.48166e-10 1 1 0 FAM47A 158724 broad.mit.edu 37 X 34150222 34150222 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chrX:34150222G>T ENST00000346193.3 - 1 225 c.174C>A c.(172-174)ttC>ttA p.F58L NM_203408.3 NP_981953.2 Q5JRC9 FA47A_HUMAN family with sequence similarity 47, member A 58 NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 97 AGCCGTAGCGGAAGTCGTCCA 0.557000 21 81 1.96292e-10 2.47211e-10 1 1 0 SPEF2 79925 broad.mit.edu 37 5 35795804 35795804 + Splice_Site SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr5:35795804G>T ENST00000440995.2 + 33 4722 c.e33-1 CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000356031.3_Splice_Site|SPEF2_ENST00000303129.4_Splice_Site Q9C093 SPEF2_HUMAN sperm flagellar 2 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 37 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) TTTTTATGTAGGCTGGTCTGT 0.358000 30 121 5.77227e-19 8.38549e-19 1 1 0 SHANK1 50944 broad.mit.edu 37 19 51165381 51165381 + Missense_Mutation SNP C C G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:51165381C>G ENST00000293441.1 - 23 6345 c.6327G>C c.(6325-6327)tgG>tgC p.W2109C SHANK1_ENST00000391813.1_Missense_Mutation_p.W1496C|SHANK1_ENST00000359082.3_Missense_Mutation_p.W2100C|SHANK1_ENST00000391814.1_Missense_Mutation_p.W2117C|SYT3_ENST00000544769.1_Intron NM_016148.2 NP_057232.2 Q9Y566 SHAN1_HUMAN SH3 and multiple ankyrin repeat domains 1 2109 SAM. cytoskeletal anchoring at plasma membrane cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane ionotropic glutamate receptor binding breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 64 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199) CCAAACCCAGCCACTCCAGCC 0.627000 27 53 0 0 1 0 0 ERMN 57471 broad.mit.edu 37 2 158178034 158178034 + Silent SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr2:158178034G>T ENST00000410096.1 - 3 895 c.604C>A c.(604-606)Cga>Aga p.R202R ERMN_ENST00000397283.2_Silent_p.R215R|ERMN_ENST00000420719.2_Silent_p.R182R|ERMN_ENST00000535935.1_Silent_p.R96R NM_020711.1 NP_065762.1 Q8TAM6 ERMIN_HUMAN ermin, ERM-like protein 202 cytoplasm|cytoskeleton endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1) 12 TCTATCACTCGAACTtcatct 0.383000 31 70 3.1745e-13 4.22575e-13 1 1 0 EIF4ENIF1 56478 broad.mit.edu 37 22 31859761 31859761 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr22:31859761C>T ENST00000397525.1 - 5 714 c.491G>A c.(490-492)cGg>cAg p.R164Q RP11-247I13.11_ENST00000483736.1_RNA|EIF4ENIF1_ENST00000344710.5_Intron|EIF4ENIF1_ENST00000330125.5_Missense_Mutation_p.R164Q|EIF4ENIF1_ENST00000397523.1_Missense_Mutation_p.R164Q|RP11-247I13.8_ENST00000439588.1_RNA|RP11-247I13.11_ENST00000464523.1_RNA NM_001164501.1 NP_001157973.1 Q9NRA8 4ET_HUMAN eukaryotic translation initiation factor 4E nuclear import factor 1 164 Arg-rich. nucleus protein binding|protein transporter activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 CTCAAAGGTCCGGGCAGAGAT 0.532000 13 111 0 0 1 0 0 SYN3 8224 broad.mit.edu 37 22 32934035 32934035 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr22:32934035C>T ENST00000358763.2 - 9 1221 c.979G>A c.(979-981)Gcc>Acc p.A327T SYN3_ENST00000332840.5_Missense_Mutation_p.A327T NM_001135774.1 NP_001129246.1 O14994 SYN3_HUMAN synapsin III 327 C; actin-binding and synaptic-vesicle binding. neurotransmitter secretion cell junction|synaptic vesicle membrane ATP binding|ligase activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 33 TCTGTCATGGCCACCTGCTCC 0.537000 11 101 0 0 1 0 0 LRP1 4035 broad.mit.edu 37 12 57591140 57591140 + Silent SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr12:57591140C>T ENST00000243077.3 + 57 9601 c.9135C>T c.(9133-9135)gaC>gaT p.D3045D NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 3045 aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) TCAACCTGGACGGGTCCAACT 0.587000 20 164 0 0 1 0 0 GAL3ST1 9514 broad.mit.edu 37 22 30951613 30951613 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr22:30951613G>A ENST00000402321.1 - 3 916 c.599C>T c.(598-600)cCg>cTg p.P200L GAL3ST1_ENST00000338911.5_Missense_Mutation_p.P200L|GAL3ST1_ENST00000401975.1_Missense_Mutation_p.P200L|GAL3ST1_ENST00000443111.2_Missense_Mutation_p.P200L|GAL3ST1_ENST00000406955.1_Missense_Mutation_p.P200L|GAL3ST1_ENST00000406361.1_Missense_Mutation_p.P200L|GAL3ST1_ENST00000402369.1_Missense_Mutation_p.P200L Q99999 G3ST1_HUMAN galactose-3-O-sulfotransferase 1 200 protein N-linked glycosylation Golgi membrane|integral to plasma membrane|membrane fraction galactosylceramide sulfotransferase activity NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 21 GTAGCGATCCGGGTCTTGCAG 0.627000 20 140 0 0 1 0 0 SUCLG1 8802 broad.mit.edu 37 2 84670503 84670503 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr2:84670503C>T ENST00000393868.2 - 3 433 c.223G>A c.(223-225)Gca>Aca p.A75T NM_003849.3 NP_003840.2 P53597 SUCA_HUMAN succinate-CoA ligase, alpha subunit 75 tricarboxylic acid cycle ATP citrate synthase activity|GTP binding|succinate-CoA ligase (GDP-forming) activity kidney(4)|large_intestine(4)|lung(2) 10 Succinic acid(DB00139) TATTCCAATGCCTGCTGGCTG 0.483000 8 44 0 0 1 0 0 PVRL1 5818 broad.mit.edu 37 11 119548515 119548515 + Silent SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:119548515C>T ENST00000264025.3 - 3 1013 c.483G>A c.(481-483)aaG>aaA p.K161K PVRL1_ENST00000340882.2_Silent_p.K161K|PVRL1_ENST00000524510.1_5'UTR|PVRL1_ENST00000341398.2_Silent_p.K161K NM_002855.4 NP_002846.3 Q15223 PVRL1_HUMAN poliovirus receptor-related 1 (herpesvirus entry mediator C) 161 Ig-like C2-type 1. adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response cell-cell adherens junction|extracellular region|integral to membrane cell adhesion molecule binding|coreceptor activity|protein homodimerization activity breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.29e-05) CATCCTGCCCCTTCTTGGCTC 0.567000 14 67 0 0 1 0 0 ADAMTS5 11096 broad.mit.edu 37 21 28306884 28306884 + Silent SNP C C G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr21:28306884C>G ENST00000284987.5 - 4 1711 c.1590G>C c.(1588-1590)ctG>ctC p.L530L AP001601.2_ENST00000426771.1_RNA NM_007038.3 NP_008969.2 Q9UNA0 ATS5_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 5 530 Disintegrin. proteolysis proteinaceous extracellular matrix integrin binding|metalloendopeptidase activity|zinc ion binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 72 GCTTCTTGGTCAGACAGACCA 0.552000 16 27 0 0 1 0 0 EPG5 57724 broad.mit.edu 37 18 43483969 43483969 + Silent SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr18:43483969G>T ENST00000282041.5 - 25 4477 c.4443C>A c.(4441-4443)tcC>tcA p.S1481S EPG5_ENST00000585906.1_5'UTR NM_020964.2 NP_066015.2 Q9HCE0 EPG5_HUMAN ectopic P-granules autophagy protein 5 homolog (C. elegans) 1481 autophagy NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 95 CCAGCTGCACGGACAAACTGC 0.512000 26 29 3.01185e-09 3.67951e-09 1 1 0 IGFN1 91156 broad.mit.edu 37 1 201195197 201195197 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:201195197G>A ENST00000335211.4 + 22 10862 c.10732G>A c.(10732-10734)Ggg>Agg p.G3578R IGFN1_ENST00000295591.8_3'UTR NM_001164586.1 NP_001158058.1 immunoglobulin-like and fibronectin type III domain containing 1 autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 GAATGAGCTGGGGGCCAGCAA 0.682000 20 55 0 0 1 0 0 NPL 80896 broad.mit.edu 37 1 182783956 182783956 + Silent SNP T T A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:182783956T>A ENST00000367554.3 + 5 588 c.270T>A c.(268-270)gcT>gcA p.A90A NPL_ENST00000463899.1_3'UTR|NPL_ENST00000367553.1_Silent_p.A109A|NPL_ENST00000258317.2_Silent_p.A109A|NPL_ENST00000367555.1_Silent_p.A109A|NPL_ENST00000367552.2_Silent_p.A109A NM_001200050.1 NP_001186979.1 Q9BXD5 NPL_HUMAN N-acetylneuraminate pyruvate lyase (dihydrodipicolinate synthase) 109 carbohydrate metabolic process cytoplasm N-acetylneuraminate lyase activity breast(1)|central_nervous_system(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(1)|stomach(1) 15 ATGGCATCGCTGTCATTGCAC 0.443000 22 43 0 0 1 0 0 SLC12A5 57468 broad.mit.edu 37 20 44682252 44682252 + Silent SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr20:44682252G>T ENST00000454036.1 + 20 2728 c.2652G>T c.(2650-2652)gtG>gtT p.V884V SLC12A5_ENST00000243964.3_Silent_p.V861V NM_001134771.1 NP_001128243.1 Q9H2X9 S12A5_HUMAN solute carrier family 12 (potassium/chloride transporter), member 5 884 potassium ion transport|sodium ion transport integral to membrane potassium:chloride symporter activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1) 80 Myeloproliferative disorder(115;0.0122) Bumetanide(DB00887)|Potassium Chloride(DB00761) TCTTCACTGTGGCCCAGATGG 0.527000 39 103 2.26627e-22 3.41158e-22 1 1 0 IRF7 3665 broad.mit.edu 37 11 613338 613338 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:613338G>A ENST00000397566.1 - 7 1553 c.1144C>T c.(1144-1146)Cgg>Tgg p.R382W IRF7_ENST00000397562.3_Missense_Mutation_p.R76W|IRF7_ENST00000348655.6_Missense_Mutation_p.R340W|IRF7_ENST00000330243.5_Missense_Mutation_p.R382W|IRF7_ENST00000525445.1_Missense_Mutation_p.R263W|IRF7_ENST00000397570.1_Missense_Mutation_p.R340W|IRF7_ENST00000397574.2_Missense_Mutation_p.R369W NM_004031.2 NP_004022.2 Q92985 IRF7_HUMAN interferon regulatory factor 7 369 interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of interferon-alpha production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway cytosol|endosome membrane|nucleoplasm|plasma membrane DNA binding|protein binding|sequence-specific DNA binding transcription factor activity endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136) all cancers(45;7.68e-28)|Epithelial(43;7.44e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;6.96e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) CCCATGCGCCGGGCCCACAGC 0.701000 12 75 0 0 1 0 0 GAB4 128954 broad.mit.edu 37 22 17444714 17444714 + Silent SNP C C T rs142725655 by1000genomes TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr22:17444714C>T ENST00000400588.1 - 9 1589 c.1482G>A c.(1480-1482)ccG>ccA p.P494P NM_001037814.1 NP_001032903.1 Q2WGN9 GAB4_HUMAN GRB2-associated binding protein family, member 4 494 breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 44 all_epithelial(15;0.112)|Lung NSC(13;0.248) ATGCAGATGCCGGGTTCTGCT 0.592000 5 55 0 0 1 0 0 TLR4 7099 broad.mit.edu 37 9 120476340 120476340 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr9:120476340C>A ENST00000355622.6 + 3 2035 c.1934C>A c.(1933-1935)tCt>tAt p.S645Y TLR4_ENST00000394487.4_Missense_Mutation_p.S605Y|TLR4_ENST00000472304.1_3'UTR NM_138554.4|NM_138557.2 NP_612564.1|NP_612567.1 O00206 TLR4_HUMAN toll-like receptor 4 645 activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm lipopolysaccharide receptor activity|transmembrane receptor activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 103 CTTGTAGTATCTGTTGTAGCA 0.428000 17 27 2.23348e-06 2.543e-06 1 1 0 NPTX2 4885 broad.mit.edu 37 7 98257789 98257789 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr7:98257789G>A ENST00000265634.3 + 5 1309 c.1144G>A c.(1144-1146)Gtc>Atc p.V382I NM_002523.2 NP_002514.1 P47972 NPTX2_HUMAN neuronal pentraxin II 382 Pentaxin. synaptic transmission extracellular region metal ion binding|sugar binding breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 18 all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142) STAD - Stomach adenocarcinoma(171;0.215) ATGGGACCGCGTCCTTCGCGC 0.557000 8 9 0 0 1 0 0 OR5P3 120066 broad.mit.edu 37 11 7847517 7847517 + Translation_Start_Site SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:7847517C>A ENST00000328375.1 - 1 2 c.3G>T c.(1-3)atG>atT p.M1I RP11-35J10.5_ENST00000527565.1_lincRNA NM_153445.1 NP_703146.1 Q8WZ94 OR5P3_HUMAN olfactory receptor, family 5, subfamily P, member 3 1 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1) 15 Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) TTCCAGTCCCCATCTATATTG 0.323000 21 55 3.10358e-05 3.42585e-05 1 1 0 NCOR1 9611 broad.mit.edu 37 17 16004911 16004911 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr17:16004911C>A ENST00000268712.3 - 20 2600 c.2343G>T c.(2341-2343)gaG>gaT p.E781D NCOR1_ENST00000395851.1_Missense_Mutation_p.E797D|NCOR1_ENST00000395848.1_Missense_Mutation_p.E688D NM_006311.3 NP_006302.2 O75376 NCOR1_HUMAN nuclear receptor corepressor 1 781 cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter nuclear chromatin|spindle microtubule|transcriptional repressor complex histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10) 107 UCEC - Uterine corpus endometrioid carcinoma (92;0.101) TCACCTGGGTCTCCACACTTT 0.522000 43 89 8.01111e-26 1.22822e-25 1 1 0 PPAP2A 8611 broad.mit.edu 37 5 54721792 54721792 + Missense_Mutation SNP C C T rs139142643 TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr5:54721792C>T ENST00000307259.8 - 5 1045 c.625G>A c.(625-627)Gta>Ata p.V209I PPAP2A_ENST00000264775.5_Missense_Mutation_p.V210I NM_003711.2 NP_003702.2 O14494 LPP1_HUMAN phosphatidic acid phosphatase type 2A 209 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|androgen receptor signaling pathway|germ cell migration|negative regulation of cell proliferation|phospholipid dephosphorylation|regulation of lipid metabolic process|sphingolipid metabolic process integral to plasma membrane|membrane fraction phosphatidate phosphatase activity|sphingosine-1-phosphate phosphatase activity breast(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1) 9 Lung NSC(810;4.08e-05)|Prostate(74;0.0181)|Breast(144;0.0544) TAAATGGATACGGCAACAAGA 0.428000 11 52 0 0 1 0 0 RBMX 27316 broad.mit.edu 37 X 135956385 135956385 + Nonsense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chrX:135956385G>T ENST00000320676.7 - 9 1246 c.1092C>A c.(1090-1092)taC>taA p.Y364* RBMX_ENST00000562646.1_3'UTR|RBMX_ENST00000570135.1_Nonsense_Mutation_p.Y229*|RBMX_ENST00000431446.3_Intron|RBMX_ENST00000565438.1_Nonsense_Mutation_p.Y236* NM_002139.3 NP_002130.2 P38159 HNRPG_HUMAN RNA binding motif protein, X-linked 364 catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|protein binding|RNA binding NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1) 33 Acute lymphoblastic leukemia(192;0.000127) TTGAACTGCTGTAGGAATCAC 0.532000 20 99 6.33239e-15 8.74064e-15 1 1 0 C11orf31 280636 broad.mit.edu 37 11 57509596 57509596 + Silent SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:57509596G>A ENST00000388857.4 + 3 300 c.276G>A c.(274-276)gaG>gaA p.E92E TMX2-CTNND1_ENST00000528395.1_Intron|C11orf31_ENST00000534355.1_Silent_p.E92E Q8IZQ5 SELH_HUMAN chromosome 11 open reading frame 31 92 cell redox homeostasis selenium binding CAGGTGCGGAGCTCTGGACTG 0.512000 6 21 0 0 1 0 0 NIPAL3 57185 broad.mit.edu 37 1 24771674 24771674 + Splice_Site SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:24771674G>T ENST00000003912.3 + 6 803 c.e6-1 NIPAL3_ENST00000358028.4_Splice_Site|NIPAL3_ENST00000339255.2_Splice_Site|NIPAL3_ENST00000374399.4_Splice_Site|NIPAL3_ENST00000428131.1_Splice_Site Q6P499 NPAL3_HUMAN NIPA-like domain containing 3 integral to membrane endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(1) 14 TCATTTTTCAGCTAGTGCCAT 0.433000 13 33 0.0135373 0.0139221 1 1 0 HMGXB4 10042 broad.mit.edu 37 22 35661297 35661297 + Nonsense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr22:35661297G>T ENST00000216106.5 + 5 1044 c.916G>T c.(916-918)Gag>Tag p.E306* HMGXB4_ENST00000444518.2_Nonsense_Mutation_p.E197* NM_001003681.2 NP_001003681.1 Q9UGU5 HMGX4_HUMAN HMG box domain containing 4 306 endosome to lysosome transport|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway NURF complex DNA binding breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 AGAGGCTGGGGAGTTAGTGAT 0.438000 16 58 6.31663e-08 7.5123e-08 1 1 0 DCST1 149095 broad.mit.edu 37 1 155020385 155020385 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:155020385G>A ENST00000295542.1 + 15 1831 c.1735G>A c.(1735-1737)Gca>Aca p.A579T DCST1_ENST00000423025.2_Missense_Mutation_p.A554T|DCST1_ENST00000392480.1_Missense_Mutation_p.A579T|DCST1_ENST00000368419.2_Missense_Mutation_p.A579T NM_152494.3 NP_689707.2 Q5T197 DCST1_HUMAN DC-STAMP domain containing 1 579 integral to membrane zinc ion binding p.A579T(1) breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 27 all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.000434) GAGGGTCATCGCAGCCTTCTA 0.587000 6 76 0 0 1 0 0 YKT6 10652 broad.mit.edu 37 7 44251864 44251864 + Missense_Mutation SNP T T C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr7:44251864T>C ENST00000223369.2 + 7 667 c.580T>C c.(580-582)Tgc>Cgc p.C194R YKT6_ENST00000447123.1_3'UTR|YKT6_ENST00000496112.1_Missense_Mutation_p.C160R NM_006555.3 NP_006546.1 O15498 YKT6_HUMAN YKT6 v-SNARE homolog (S. cerevisiae) 194 v-SNARE coiled-coil homology. ER to Golgi vesicle-mediated transport|protein transport|retrograde transport, endosome to Golgi|vesicle docking involved in exocytosis|vesicle targeting cytoplasmic vesicle membrane|cytosol|endoplasmic reticulum|endosome|Golgi membrane|integral to plasma membrane|mitochondrion|SNARE complex protein-cysteine S-palmitoleyltransferase activity|SNAP receptor activity breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1) 7 ACAAAACTCATGCTGTGCCAT 0.532000 46 237 0 0 1 0 0 KRTAP10-12 386685 broad.mit.edu 37 21 46117653 46117653 + Missense_Mutation SNP C C G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr21:46117653C>G ENST00000400365.3 + 1 567 c.537C>G c.(535-537)tgC>tgG p.C179W TSPEAR_ENST00000323084.4_Intron NM_198699.1 NP_941972.1 P60413 KR10C_HUMAN keratin associated protein 10-12 179 19 X 5 AA repeats of C-C-X(3). keratin filament large_intestine(1)|lung(8) 9 AGTCTAGCTGCCAGCCAGCTT 0.672000 114 215 0 0 1 0 0 ING5 84289 broad.mit.edu 37 2 242644135 242644135 + Silent SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr2:242644135G>T ENST00000313552.6 + 2 131 c.105G>T c.(103-105)acG>acT p.T35T ING5_ENST00000482774.1_3'UTR|ING5_ENST00000406941.1_Silent_p.T35T NM_032329.4 NP_115705.2 Q8WYH8 ING5_HUMAN inhibitor of growth family, member 5 35 DNA replication|histone H3 acetylation|negative regulation of cell proliferation|negative regulation of growth|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex protein binding|zinc ion binding large_intestine(1)|lung(1)|skin(1) 3 all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;2.16e-33)|all cancers(36;4.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839) ACCAGAGGACGGAAGGTGGGT 0.557000 29 82 2.4375e-19 3.56409e-19 1 1 0 TRPV2 51393 broad.mit.edu 37 17 16326847 16326847 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr17:16326847G>T ENST00000338560.7 + 5 1089 c.690G>T c.(688-690)gaG>gaT p.E230D TRPV2_ENST00000577397.1_Intron NM_016113.4 NP_057197.2 Q9Y5S1 TRPV2_HUMAN transient receptor potential cation channel, subfamily V, member 2 230 Required for interaction with SLC50A1 (By similarity). sensory perception integral to plasma membrane|melanosome calcium channel activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3) 28 UCEC - Uterine corpus endometrioid carcinoma (92;0.0837) ACCTCCTGGAGAACCCACACC 0.607000 9 33 3.09899e-07 3.62599e-07 1 1 0 MORC3 23515 broad.mit.edu 37 21 37744773 37744773 + Silent SNP A A T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr21:37744773A>T ENST00000400485.1 + 16 2686 c.2610A>T c.(2608-2610)acA>acT p.T870T MORC3_ENST00000487909.1_3'UTR NM_015358.2 NP_056173.1 Q14149 MORC3_HUMAN MORC family CW-type zinc finger 3 870 cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization aggresome|intermediate filament cytoskeleton|PML body ATP binding|zinc ion binding breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 35 AGACGGCAACAGATGTTTCAA 0.363000 19 61 0 0 1 0 0 TRIM17 51127 broad.mit.edu 37 1 228596424 228596424 + Silent SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:228596424C>T ENST00000366697.2 - 6 1868 c.912G>A c.(910-912)gcG>gcA p.A304A RP11-245P10.4_ENST00000436779.1_RNA|TRIM17_ENST00000456946.2_3'UTR|TRIM17_ENST00000366698.2_Silent_p.A304A|TRIM17_ENST00000295033.3_Silent_p.A304A Q9Y577 TRI17_HUMAN tripartite motif containing 17 304 B30.2/SPRY. protein autoubiquitination intracellular protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1) 10 Prostate(94;0.0724) GGTAGGGGTACGCGGAGGTGG 0.627000 7 110 0 0 1 0 0 CACNA1C 775 broad.mit.edu 37 12 2224480 2224480 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr12:2224480G>T ENST00000399655.1 + 2 405 c.140G>T c.(139-141)gGg>gTg p.G47V CACNA1C_ENST00000399629.1_Missense_Mutation_p.G47V|CACNA1C_ENST00000399637.1_Missense_Mutation_p.G47V|CACNA1C_ENST00000399601.1_Missense_Mutation_p.G47V|CACNA1C_ENST00000399621.1_Missense_Mutation_p.G47V|CACNA1C_ENST00000335762.5_Missense_Mutation_p.G47V|CACNA1C_ENST00000327702.7_Missense_Mutation_p.G47V|CACNA1C_ENST00000480911.1_Missense_Mutation_p.G47V|CACNA1C_ENST00000406454.3_Missense_Mutation_p.G47V|CACNA1C_ENST00000399634.1_Missense_Mutation_p.G47V|CACNA1C_ENST00000399638.1_Missense_Mutation_p.G47V|CACNA1C_ENST00000399617.1_Missense_Mutation_p.G47V|CACNA1C_ENST00000399644.1_Missense_Mutation_p.G47V|CACNA1C_ENST00000347598.4_Missense_Mutation_p.G47V|CACNA1C_ENST00000399606.1_Missense_Mutation_p.G47V|CACNA1C_ENST00000399641.1_Missense_Mutation_p.G47V|CACNA1C_ENST00000399649.1_Missense_Mutation_p.G47V|CACNA1C_ENST00000399591.1_Missense_Mutation_p.G47V|CACNA1C_ENST00000399603.1_Missense_Mutation_p.G47V|CACNA1C_ENST00000399597.1_Missense_Mutation_p.G47V|CACNA1C_ENST00000344100.3_Missense_Mutation_p.G47V|CACNA1C_ENST00000402845.3_Missense_Mutation_p.G47V|CACNA1C_ENST00000399595.1_Missense_Mutation_p.G47V NM_000719.6|NM_001129829.1|NM_001129834.1 NP_000710.5|NP_001123301.1|NP_001123306.1 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, alpha 1C subunit 47 axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4) 132 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) CCCACCCCGGGGGCTGCCCTG 0.672000 5 7 1.23904e-05 1.37992e-05 1 1 0 RGS7 6000 broad.mit.edu 37 1 240975218 240975218 + Splice_Site SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:240975218C>A ENST00000366565.1 - 14 1463 c.1082_splice c.e14+1 p.R361_splice RGS7_ENST00000407727.1_Splice_Site_p.R361_splice|RGS7_ENST00000366563.1_Splice_Site_p.R361_splice|RGS7_ENST00000366562.4_Splice_Site_p.R361_splice|RGS7_ENST00000366564.1_Splice_Site_p.R361_splice|RGS7_ENST00000446183.2_Splice_Site_p.R277_splice|RGS7_ENST00000348120.2_Splice_Site_p.R308_splice|RGS7_ENST00000331110.7_Splice_Site_p.R335_splice|RGS7_ENST00000401882.1_Splice_Site_p.R308_splice NM_002924.4 NP_002915.3 P49802 RGS7_HUMAN regulator of G-protein signaling 7 361 RGS. G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|protein binding|signal transducer activity breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 all_cancers(173;0.0131) OV - Ovarian serous cystadenocarcinoma(106;0.027) TGTGTTTTACCTTAAATTTTC 0.388000 16 61 2.35188e-11 3.04225e-11 1 1 0 SPTA1 6708 broad.mit.edu 37 1 158614143 158614143 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:158614143G>A ENST00000368148.3 - 30 4418 c.4238C>T c.(4237-4239)gCa>gTa p.A1413V SPTA1_ENST00000368147.3_Missense_Mutation_p.A1413V NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 1413 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) ATTCTCACGTGCCACCATCCA 0.473000 20 73 0 0 1 0 0 MIR1185-2 100302209 broad.mit.edu 37 14 101510612 101510612 + RNA SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr14:101510612C>A ENST00000408687.1 + 0 78 NR_031571.1 CTCTCATTTGCGTATCAAACT 0.502000 5 23 0.184627 0.185704 1 1 0 MDGA2 161357 broad.mit.edu 37 14 47504416 47504416 + Missense_Mutation SNP T T G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr14:47504416T>G ENST00000426342.1 - 8 1469 c.723A>C c.(721-723)aaA>aaC p.K241N MDGA2_ENST00000439988.2_Missense_Mutation_p.K470N|MDGA2_ENST00000399232.2_Missense_Mutation_p.K539N|MDGA2_ENST00000357362.3_Missense_Mutation_p.K241N NM_182830.3 NP_878250.2 Q7Z553 MDGA2_HUMAN MAM domain containing glycosylphosphatidylinositol anchor 2 470 spinal cord motor neuron differentiation anchored to membrane|plasma membrane breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5) 76 TTGGTTTAGGTTTGCCAGTTA 0.423000 23 110 0 0 1 0 0 DSCAM 1826 broad.mit.edu 37 21 41385178 41385178 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr21:41385178G>A ENST00000400454.1 - 33 6299 c.5822C>T c.(5821-5823)aCg>aTg p.T1941M NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 1941 HRPGDLIHLPPYLRMDFLLNRGGPGTSRDLSLGQACLEPQK SRTLKRPTVLEPIPMEAASSASSTREGQSWQPGAVATLPQR EGAELGQAAKMSSSQESLLDSRGHLKGNNPYAKSYTLV -> IGQVTSYICLHTLEWTFC (in Ref. 1; AAC17966). cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) CTCCAGGACCGTGGGGCGCTT 0.627000 14 39 0 0 1 0 0 DAPK3 1613 broad.mit.edu 37 19 3959300 3959300 + Silent SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:3959300G>A ENST00000545797.2 - 9 1407 c.1164C>T c.(1162-1164)acC>acT p.T388T DAPK3_ENST00000301264.3_Silent_p.T388T O43293 DAPK3_HUMAN death-associated protein kinase 3 388 apoptosis|chromatin modification|induction of apoptosis|intracellular protein kinase cascade cytoplasm|PML body ATP binding|leucine zipper domain binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2) 21 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18) TGAGCGCCTCGGTCTTGAGCA 0.706000 4 15 0 0 1 0 0 HEPHL1 341208 broad.mit.edu 37 11 93754640 93754640 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:93754640G>A ENST00000315765.9 + 1 114 c.106G>A c.(106-108)Gaa>Aaa p.E36K NM_001098672.1 NP_001092142.1 Q6MZM0 HPHL1_HUMAN hephaestin-like 1 36 Plastocyanin-like 1. copper ion transport integral to membrane copper ion binding|oxidoreductase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 61 Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824) GATTGTGGAAGAATACTGGAA 0.478000 32 143 0 0 1 0 0 CSPG4 1464 broad.mit.edu 37 15 75982104 75982104 + Silent SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr15:75982104G>T ENST00000308508.5 - 3 1394 c.1302C>A c.(1300-1302)atC>atA p.I434I NM_001897.4 NP_001888.2 Q6UVK1 CSPG4_HUMAN chondroitin sulfate proteoglycan 4 434 Globular or compact configuration stabilized by disulfide bonds.|Neurite growth inhibition (By similarity). angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane protein kinase binding|signal transducer activity breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4) 48 CCAGTGGGCTGATAGTCAGCA 0.647000 5 79 0.0381472 0.0387871 1 1 0 TRPM2 7226 broad.mit.edu 37 21 45798949 45798949 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr21:45798949G>A ENST00000397928.1 + 8 1529 c.1084G>A c.(1084-1086)Gtc>Atc p.V362I TRPM2_ENST00000300482.5_Missense_Mutation_p.V362I|TRPM2_ENST00000397932.2_Missense_Mutation_p.V362I|TRPM2_ENST00000300481.9_Missense_Mutation_p.V362I|TRPM2_ENST00000498430.1_3'UTR NM_003307.3 NP_003298.1 O94759 TRPM2_HUMAN transient receptor potential cation channel, subfamily M, member 2 362 integral to plasma membrane ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 76 CGTGGCCGACGTCATTGCCCA 0.617000 15 101 0 0 1 0 0 EIF5B 9669 broad.mit.edu 37 2 100013306 100013306 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr2:100013306C>T ENST00000289371.5 + 22 3540 c.3338C>T c.(3337-3339)aCg>aTg p.T1113M NM_015904.3 NP_056988.3 O60841 IF2P_HUMAN eukaryotic translation initiation factor 5B 1113 regulation of translational initiation cytosol GTP binding|GTPase activity|protein binding|translation initiation factor activity breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 ATGGGGGTGACGGTGGAAGCA 0.428000 7 95 0 0 1 0 0 DSG2 1829 broad.mit.edu 37 18 29126544 29126544 + Silent SNP T T C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr18:29126544T>C ENST00000261590.8 + 15 3404 c.3195T>C c.(3193-3195)acT>acC p.T1065T RP11-75N4.2_ENST00000583706.1_RNA NM_001943.3 NP_001934.2 Q14126 DSG2_HUMAN desmoglein 2 1065 cellular component disassembly involved in apoptosis|homophilic cell adhesion desmosome|integral to membrane calcium ion binding breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1) 49 OV - Ovarian serous cystadenocarcinoma(10;0.0068) AGATTCCCACTGAAAATTCTA 0.478000 15 93 0 0 1 0 0 LONRF3 79836 broad.mit.edu 37 X 118109308 118109308 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chrX:118109308G>T ENST00000365713.2 + 1 728 c.565G>T c.(565-567)Gac>Tac p.D189Y LONRF3_ENST00000371628.3_Missense_Mutation_p.D189Y|LONRF3_ENST00000304778.7_Missense_Mutation_p.D189Y Q496Y0 LONF3_HUMAN LON peptidase N-terminal domain and ring finger 3 189 proteolysis ATP-dependent peptidase activity|protein binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 36 GCGGGCCGCCGACCGGCGCTG 0.672000 10 30 0.000673444 0.000712181 1 1 0 C1orf21 81563 broad.mit.edu 37 1 184446685 184446685 + Silent SNP T T C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:184446685T>C ENST00000235307.6 + 2 477 c.42T>C c.(40-42)aaT>aaC p.N14N NM_030806.3 NP_110433.1 Q9H246 CA021_HUMAN chromosome 1 open reading frame 21 14 breast(1)|lung(1) 2 Breast(1374;0.00262) Colorectal(1306;4.8e-08)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314) CTGTTCAAAATGAAGAGGAAG 0.498000 5 49 0 0 1 0 0 EPAS1 2034 broad.mit.edu 37 2 46574053 46574053 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr2:46574053C>T ENST00000263734.3 + 2 578 c.68C>T c.(67-69)gCg>gTg p.A23V EPAS1_ENST00000467888.1_3'UTR NM_001430.4 NP_001421.2 Q99814 EPAS1_HUMAN endothelial PAS domain protein 1 23 angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia transcription factor complex histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18) LUSC - Lung squamous cell carcinoma(58;0.151) CGGGATGCTGCGCGGTGCCGG 0.592000 12 81 0 0 1 0 0 CLEC17A 388512 broad.mit.edu 37 19 14707927 14707927 + Missense_Mutation SNP A A T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:14707927A>T ENST00000547437.1 + 10 677 c.600A>T c.(598-600)gaA>gaT p.E200D CLEC17A_ENST00000417570.1_Missense_Mutation_p.E200D|CLEC17A_ENST00000397439.2_Missense_Mutation_p.E183D NM_207390.3 NP_997273.3 Q6ZS10 CL17A_HUMAN C-type lectin domain family 17, member A 200 cell surface|integral to membrane fucose binding|mannose binding|metal ion binding|receptor activity AGTTGATGGAAGAACTGAGAA 0.498000 7 17 0 0 1 0 0 NPPB 4879 broad.mit.edu 37 1 11917729 11917729 + Splice_Site SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:11917729C>T ENST00000376468.3 - 3 486 c.e3-1 NM_002521.2 NP_002512.1 P16860 ANFB_HUMAN natriuretic peptide B body fluid secretion|cGMP biosynthetic process|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation extracellular space diuretic hormone activity haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(1) 11 Ovarian(185;0.249) Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) Carvedilol(DB01136)|Nesiritide(DB04899)|Testosterone(DB00624) CGCCTCAGCACTGTCAGGGAA 0.557000 3 40 0 0 1 0 0 SOX11 6664 broad.mit.edu 37 2 5833260 5833260 + Missense_Mutation SNP A A G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr2:5833260A>G ENST00000322002.3 + 1 462 c.407A>G c.(406-408)cAg>cGg p.Q136R NM_003108.3 NP_003099.1 P35716 SOX11_HUMAN SRY (sex determining region Y)-box 11 136 cardiac ventricle formation|closure of optic fissure|cornea development in camera-type eye|embryonic digestive tract morphogenesis|embryonic skeletal system morphogenesis|eyelid development in camera-type eye|glial cell proliferation|hard palate development|lens morphogenesis in camera-type eye|limb bud formation|lung morphogenesis|negative regulation of cell death|negative regulation of glial cell proliferation|negative regulation of lymphocyte proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|neural crest cell development|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|outflow tract morphogenesis|positive regulation of BMP signaling pathway|positive regulation of hippo signaling cascade|positive regulation of hormone secretion|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of ossification|positive regulation of osteoblast differentiation|positive regulation of stem cell proliferation|regulation of transforming growth factor beta receptor signaling pathway|signal transduction involved in G1/S transition checkpoint|soft palate development|somite development|spinal cord development|sympathetic nervous system development|ventricular septum morphogenesis cytoplasm|nucleolus enhancer sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity|translation factor activity, nucleic acid binding central_nervous_system(5)|cervix(1)|endometrium(1)|liver(1)|lung(4)|stomach(1) 13 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191) OV - Ovarian serous cystadenocarcinoma(76;0.132) AGCGCCAGCCAGAGCCCAGAG 0.701000 6 12 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9066407 9066407 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:9066407C>A ENST00000397910.4 - 3 21242 c.21039G>T c.(21037-21039)atG>atT p.M7013I NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 7015 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 AGAGCCTTGTCATTGTTCTTG 0.512000 60 197 3.30226e-22 4.95449e-22 1 1 0 DMD 1756 broad.mit.edu 37 X 31747768 31747768 + Missense_Mutation SNP C C G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chrX:31747768C>G ENST00000357033.4 - 52 7846 c.7640G>C c.(7639-7641)aGa>aCa p.R2547T DMD_ENST00000378707.3_Missense_Mutation_p.R87T|DMD_ENST00000359836.1_Missense_Mutation_p.R87T|DMD_ENST00000343523.2_Missense_Mutation_p.R87T|DMD_ENST00000378677.2_Missense_Mutation_p.R2543T|DMD_ENST00000474231.1_Missense_Mutation_p.R87T|DMD_ENST00000541735.1_Missense_Mutation_p.R87T NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2 NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1 P11532 DMD_HUMAN dystrophin 2547 muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2) 77 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) AATGATTGTTCTAGCCTCTTG 0.408000 27 77 0 0 1 0 0 FER 2241 broad.mit.edu 37 5 108380497 108380497 + Splice_Site SNP G G C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr5:108380497G>C ENST00000281092.4 + 15 2213 c.e15+1 FER_ENST00000438717.2_Splice_Site NM_005246.2 NP_005237.2 P16591 FER_HUMAN fer (fps/fes related) tyrosine kinase intracellular signal transduction|peptidyl-tyrosine phosphorylation cytoplasm|nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2) 32 all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152) OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174) AAGAAGCCAAGTGAGttattt 0.239000 28 17 0 0 1 0 0 WIZ 58525 broad.mit.edu 37 19 15535511 15535511 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:15535511G>A ENST00000389282.4 - 8 4726 c.4513C>T c.(4513-4515)Cgg>Tgg p.R1505W WIZ_ENST00000545156.1_Missense_Mutation_p.R819W|WIZ_ENST00000599686.2_Missense_Mutation_p.R689W|WIZ_ENST00000599910.1_Missense_Mutation_p.R822W|WIZ_ENST00000263381.6_Missense_Mutation_p.R648W O95785 WIZ_HUMAN widely interspaced zinc finger motifs 1505 nucleus zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1) 24 TCGGCTGCCCGGCCAGCCTCG 0.726000 3 9 0 0 1 0 0 PCDHA4 56144 broad.mit.edu 37 5 140188390 140188390 + Missense_Mutation SNP G G C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr5:140188390G>C ENST00000530339.1 + 1 1618 c.1618G>C c.(1618-1620)Gcc>Ccc p.A540P PCDHA4_ENST00000512229.2_Missense_Mutation_p.A540P|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.A540P|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron NM_018907.2 NP_061730.1 breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGCTCGCGATGCCGGCGTGCC 0.657000 35 42 0 0 1 0 0 INSC 387755 broad.mit.edu 37 11 15197613 15197613 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:15197613C>A ENST00000379554.3 + 3 570 c.524C>A c.(523-525)tCc>tAc p.S175Y INSC_ENST00000424273.1_Missense_Mutation_p.S128Y|INSC_ENST00000379556.3_Missense_Mutation_p.S128Y|INSC_ENST00000530161.1_Missense_Mutation_p.S128Y|INSC_ENST00000525218.1_Missense_Mutation_p.S128Y|INSC_ENST00000528567.1_Missense_Mutation_p.S128Y NM_001031853.3 NP_001027024.3 Q1MX18 INSC_HUMAN inscuteable homolog (Drosophila) 175 cell differentiation|nervous system development cytoplasm binding NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 AGCAGGAACTCCTTGAAGGAA 0.597000 5 5 0.014758 0.0151151 1 1 0 ROBO4 54538 broad.mit.edu 37 11 124757055 124757055 + Silent SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:124757055G>T ENST00000306534.3 - 15 2738 c.2253C>A c.(2251-2253)atC>atA p.I751I RP11-664I21.5_ENST00000524453.1_RNA|ROBO4_ENST00000533054.1_Silent_p.I606I NM_019055.5 NP_061928.4 Q8WZ75 ROBO4_HUMAN roundabout, axon guidance receptor, homolog 4 (Drosophila) 751 Pro/Ser-rich. angiogenesis|cell differentiation integral to membrane receptor activity NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3) 76 all_hematologic(175;0.215) Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301) TAAGGATGGGGATGGGGGCTG 0.642000 33 98 7.63505e-26 1.17137e-25 1 1 0 DNAI2 64446 broad.mit.edu 37 17 72283194 72283194 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr17:72283194G>T ENST00000579490.1 + 3 730 c.595G>T c.(595-597)Gtg>Ttg p.V199L DNAI2_ENST00000307504.5_Intron|DNAI2_ENST00000446837.2_Missense_Mutation_p.V142L|DNAI2_ENST00000582036.1_Missense_Mutation_p.V142L|DNAI2_ENST00000311014.6_Missense_Mutation_p.V142L Q9GZS0 DNAI2_HUMAN dynein, axonemal, intermediate chain 2 142 cilium assembly axonemal dynein complex|cilium axoneme|cytoplasm|microtubule microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 39 GGCCATGGAAGTGATGGAGGA 0.527000 Kartagener syndrome 8 34 0.000157383 0.000170454 1 1 0 SEMA3C 10512 broad.mit.edu 37 7 80378225 80378225 + Missense_Mutation SNP T T A rs35974568 TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr7:80378225T>A ENST00000265361.3 - 17 2392 c.1831A>T c.(1831-1833)Agg>Tgg p.R611W SEMA3C_ENST00000419255.2_Missense_Mutation_p.R611W|SEMA3C_ENST00000544525.1_Missense_Mutation_p.R629W NM_006379.3 NP_006370.1 Q99985 SEM3C_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C 611 Ig-like C2-type. immune response|response to drug membrane receptor activity NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 34 TCTTTCCTCCTGTCTTTGTCT 0.458000 18 99 0 0 1 0 0 GBP7 388646 broad.mit.edu 37 1 89615207 89615207 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:89615207G>A ENST00000294671.2 - 7 1058 c.920C>T c.(919-921)gCg>gTg p.A307V NM_207398.2 NP_997281.2 Q8N8V2 GBP7_HUMAN guanylate binding protein 7 307 integral to membrane GTP binding|GTPase activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 Lung NSC(277;0.0908) all cancers(265;0.00835)|Epithelial(280;0.0322) ACAAGGAGTCGCTCCACTGTT 0.517000 4 72 0 0 1 0 0 OR2M4 26245 broad.mit.edu 37 1 248402868 248402868 + Missense_Mutation SNP T T A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:248402868T>A ENST00000306687.1 + 1 638 c.638T>A c.(637-639)gTt>gAt p.V213D NM_017504.1 NP_059974.1 Q96R27 OR2M4_HUMAN olfactory receptor, family 2, subfamily M, member 4 213 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2) 50 all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) CCAGTTTCAGTTATCATACTT 0.468000 25 50 0 0 1 0 0 HRNR 388697 broad.mit.edu 37 1 152187488 152187488 + Missense_Mutation SNP C C A rs139858493 TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:152187488C>A ENST00000368801.2 - 3 6692 c.6617G>T c.(6616-6618)gGt>gTt p.G2206V FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 2206 keratinization calcium ion binding|protein binding autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GGAAGAACGACCTGAGCCAGA 0.607000 27 666 9.65963e-10 1.20169e-09 1 1 0 DDI1 414301 broad.mit.edu 37 11 103908164 103908164 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:103908164C>A ENST00000302259.3 + 1 857 c.614C>A c.(613-615)cCa>cAa p.P205Q PDGFD_ENST00000393158.2_Intron|PDGFD_ENST00000302251.5_Intron NM_001001711.2 NP_001001711.1 Q8WTU0 DDI1_HUMAN DNA-damage inducible 1 homolog 1 (S. cerevisiae) 205 proteolysis aspartic-type endopeptidase activity central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164) BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169) ACAGCCGACCCACTGGATCGG 0.502000 48 123 5.73435e-26 8.80366e-26 1 1 0 LARGE 9215 broad.mit.edu 37 22 34046550 34046550 + Nonsense_Mutation SNP C C A rs116164106 byFrequency TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr22:34046550C>A ENST00000354992.2 - 4 782 c.211G>T c.(211-213)Gag>Tag p.E71* LARGE_ENST00000437602.2_Nonsense_Mutation_p.E71*|LARGE_ENST00000462606.1_5'UTR|LARGE_ENST00000337431.2_Nonsense_Mutation_p.E71*|LARGE_ENST00000397394.2_Nonsense_Mutation_p.E71*|LARGE_ENST00000402320.1_Nonsense_Mutation_p.E71* NM_004737.4 NP_004728.1 O95461 LARGE_HUMAN like-glycosyltransferase 71 glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation integral to Golgi membrane acetylglucosaminyltransferase activity breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Lung NSC(1;0.219) TCCTCCACCTCGCGCATGCGC 0.687000 31 101 1.08312e-15 1.51178e-15 1 1 0 MAGEC3 139081 broad.mit.edu 37 X 140985549 140985549 + Silent SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chrX:140985549C>A ENST00000298296.1 + 8 1863 c.1863C>A c.(1861-1863)acC>acA p.T621T MAGEC3_ENST00000409007.1_3'UTR|MAGEC3_ENST00000544766.1_3'UTR|MAGEC3_ENST00000536088.1_3'UTR|MAGEC3_ENST00000443323.2_3'UTR NM_138702.1 NP_619647.1 Q8TD91 MAGC3_HUMAN melanoma antigen family C, 3 621 MAGE 2. NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2) 69 Acute lymphoblastic leukemia(192;6.56e-05) TAATTGACACCACAGATGATG 0.483000 25 57 9.90768e-06 1.11004e-05 1 1 0 ANGEL1 23357 broad.mit.edu 37 14 77255732 77255732 + Splice_Site SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr14:77255732C>A ENST00000251089.2 - 10 1965 c.e10-1 ANGEL1_ENST00000557179.1_Splice_Site NM_015305.3 NP_056120.2 Q9UNK9 ANGE1_HUMAN angel homolog 1 (Drosophila) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1) 22 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0285) AGCCTGTGATCTGGGGCACAA 0.562000 11 103 2.80697e-09 3.43296e-09 1 1 0 KIAA1324L 222223 broad.mit.edu 37 7 86537766 86537766 + Missense_Mutation SNP T T C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr7:86537766T>C ENST00000450689.2 - 17 2638 c.2453A>G c.(2452-2454)tAt>tGt p.Y818C KIAA1324L_ENST00000297222.6_Missense_Mutation_p.Y578C|KIAA1324L_ENST00000416314.1_Missense_Mutation_p.Y651C|KIAA1324L_ENST00000444627.1_Missense_Mutation_p.Y747C NM_001142749.2 NP_001136221.1 A8MWY0 K132L_HUMAN KIAA1324-like 818 integral to membrane breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 44 Esophageal squamous(14;0.0058) CACTTACTTATAAAAGAAATG 0.299000 18 22 0 0 1 0 0 C16orf90 646174 broad.mit.edu 37 16 3543978 3543978 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr16:3543978G>T ENST00000437192.3 - 3 412 c.410C>A c.(409-411)tCc>tAc p.S137Y LA16c-306E5.3_ENST00000574423.2_RNA NM_001080524.1 NP_001073993.1 A8MZG2 CP090_HUMAN chromosome 16 open reading frame 90 127 large_intestine(1) 1 GTCCATGCTGGAACTGGAAGC 0.627000 15 21 1.3612e-06 1.56654e-06 1 1 0 DPYSL4 10570 broad.mit.edu 37 10 134008381 134008381 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr10:134008381C>A ENST00000338492.4 + 4 510 c.346C>A c.(346-348)Ctg>Atg p.L116M DPYSL4_ENST00000368629.1_Missense_Mutation_p.L39M|DPYSL4_ENST00000368627.1_Missense_Mutation_p.L39M|DPYSL4_ENST00000493882.1_3'UTR NM_006426.2 NP_006417.2 O14531 DPYL4_HUMAN dihydropyrimidinase-like 4 116 axon guidance|pyrimidine base catabolic process cytosol hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19) OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206) GGGTGTGAGCCTGCTGGCGGC 0.657000 28 77 6.53348e-20 9.61587e-20 1 1 0 TNKS2 80351 broad.mit.edu 37 10 93593609 93593609 + Splice_Site SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr10:93593609G>T ENST00000371627.4 + 12 1654 c.e12-1 NM_025235.3 NP_079511.1 Q9H2K2 TNKS2_HUMAN tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2 positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm NAD+ ADP-ribosyltransferase activity|protein binding biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1) 48 Colorectal(252;0.162) GCTTTGTTAAGGTTAATGCTC 0.368000 6 49 0.0215528 0.0220241 1 1 0 PREX1 57580 broad.mit.edu 37 20 47268029 47268029 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr20:47268029C>T ENST00000396220.1 - 22 2582 c.2560G>A c.(2560-2562)Ggc>Agc p.G854S PREX1_ENST00000371941.3_Missense_Mutation_p.G854S Q8TCU6 PREX1_HUMAN phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 854 actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process cytosol|plasma membrane enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 110 BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198) TACACCACGCCGTGTTCCAGG 0.642000 12 75 0 0 1 0 0 ATP12A 479 broad.mit.edu 37 13 25262494 25262494 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr13:25262494G>A ENST00000218548.6 + 4 599 c.266G>A c.(265-267)cGg>cAg p.R89Q ATP12A_ENST00000381946.3_Missense_Mutation_p.R89Q NM_001185085.1|NM_001676.5 NP_001172014.1|NP_001667.4 P54707 AT12A_HUMAN ATPase, H+/K+ transporting, nongastric, alpha polypeptide 89 ATP biosynthetic process hydrogen:potassium-exchanging ATPase complex ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding p.R89L(1) breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5) 74 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228) Esomeprazole(DB00736)|Pantoprazole(DB00213) CTCCTGGCCCGGGATGGGCCC 0.577000 55 272 0 0 1 0 0 CPSF3L 54973 broad.mit.edu 37 1 1255874 1255874 + Silent SNP G G A rs148107611 TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:1255874G>A ENST00000540437.1 - 5 635 c.180C>T c.(178-180)aaC>aaT p.N60N CPSF3L_ENST00000421495.2_Intron|CPSF3L_ENST00000435064.1_Silent_p.N54N|CPSF3L_ENST00000450926.2_Silent_p.N54N|CPSF3L_ENST00000411962.1_Intron|CPSF3L_ENST00000419704.1_Intron|CPSF3L_ENST00000545578.1_Silent_p.N25N NM_001256456.1 NP_001243385.1 Q5TA45 INT11_HUMAN cleavage and polyadenylation specific factor 3-like 54 Golgi apparatus|nucleus hydrolase activity endometrium(4)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(3) 13 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(86;4.35e-21)|Colorectal(212;0.000166)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.00235)|BRCA - Breast invasive adenocarcinoma(365;0.00255)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0349)|Lung(427;0.201) TTAGGCGGCCGTTCTGGGTGA 0.592000 29 139 0 0 1 0 0 GIMAP7 168537 broad.mit.edu 37 7 150217559 150217559 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr7:150217559C>A ENST00000313543.4 + 2 654 c.497C>A c.(496-498)gCc>gAc p.A166D NM_153236.3 NP_694968.1 Q8NHV1 GIMA7_HUMAN GTPase, IMAP family member 7 166 GTP binding breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 17 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CGCTGCTGTGCCTTTAGCAAC 0.517000 9 54 0.000274275 0.000293932 1 1 0 UGT1A5 54579 broad.mit.edu 37 2 234622397 234622397 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr2:234622397G>A ENST00000373414.3 + 1 760 c.760G>A c.(760-762)Gtg>Atg p.V254M UGT1A6_ENST00000480628.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A7_ENST00000373426.3_Intron NM_019078.1 NP_061951.1 cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1) 22 Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128) Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645) CCATGCATCTGTGTGGCTGTT 0.532000 97 189 0 0 1 0 0 GRM8 2918 broad.mit.edu 37 7 126173566 126173566 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr7:126173566C>A ENST00000339582.2 - 9 2678 c.1870G>T c.(1870-1872)Gtg>Ttg p.V624L GRM8_ENST00000358373.3_Missense_Mutation_p.V624L|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000444921.2_Missense_Mutation_p.V624L O00222 GRM8_HUMAN glutamate receptor, metabotropic 8 624 negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4) 125 Prostate(267;0.186) L-Glutamic Acid(DB00142) GTTAGGAGCACGTAACTAAGT 0.458000 HNSCC(24;0.065) 28 25 4.59853e-10 5.75907e-10 1 1 0 ZNF676 163223 broad.mit.edu 37 19 22362844 22362844 + Nonsense_Mutation SNP T T A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:22362844T>A ENST00000397121.2 - 3 1992 c.1675A>T c.(1675-1677)Aaa>Taa p.K559* NM_001001411.2 NP_001001411.2 Q8N7Q3 ZN676_HUMAN zinc finger protein 676 559 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 67 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114) TTGTAGGGTTTCTCTCCAGTA 0.378000 19 66 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179462479 179462479 + Silent SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr2:179462479G>T ENST00000589042.1 - 294 57554 c.57330C>A c.(57328-57330)atC>atA p.I19110I TTN_ENST00000591111.1_Silent_p.I17469I|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000359218.5_Silent_p.I10170I|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Silent_p.I10237I|TTN_ENST00000342992.6_Silent_p.I16542I|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Silent_p.I10045I NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 17469 Fibronectin type-III 38. 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) CAATGATTCGGATCACCCCTC 0.453000 16 46 1.5739e-10 1.99337e-10 1 1 0 MAP3K9 4293 broad.mit.edu 37 14 71199499 71199499 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr14:71199499G>A ENST00000554752.2 - 11 2586 c.2587C>T c.(2587-2589)Cca>Tca p.P863S MAP3K9_ENST00000554146.1_Missense_Mutation_p.P591S|MAP3K9_ENST00000555993.2_Missense_Mutation_p.P877S|MAP3K9_ENST00000381250.4_Missense_Mutation_p.P840S|MAP3K9_ENST00000553414.1_Missense_Mutation_p.P596S P80192 M3K9_HUMAN mitogen-activated protein kinase kinase kinase 9 863 Pro-rich. activation of JUN kinase activity|protein autophosphorylation ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2) 46 all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08) GGGCTGACTGGCATCTCATAC 0.582000 22 107 0 0 1 0 0 SEC62 7095 broad.mit.edu 37 3 169694773 169694773 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr3:169694773C>T ENST00000337002.4 + 3 243 c.185C>T c.(184-186)gCa>gTa p.A62V SEC62_ENST00000480708.1_Missense_Mutation_p.A62V NM_003262.3 NP_003253.1 Q99442 SEC62_HUMAN SEC62 homolog (S. cerevisiae) 62 cotranslational protein targeting to membrane|transmembrane transport aggresome|endoplasmic reticulum membrane|integral to membrane|intermediate filament cytoskeleton|rough endoplasmic reticulum protein transporter activity|receptor activity NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1) 9 TCAAAGTGGGCAAAGGCCAAG 0.348000 17 46 0 0 1 0 0 RELN 5649 broad.mit.edu 37 7 103230083 103230083 + Missense_Mutation SNP T T A rs115633553 by1000genomes TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr7:103230083T>A ENST00000424685.2 - 28 4264 c.4105A>T c.(4105-4107)Aca>Tca p.T1369S RELN_ENST00000343529.5_Missense_Mutation_p.T1369S|RELN_ENST00000428762.1_Missense_Mutation_p.T1369S P78509 RELN_HUMAN reelin 1369 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) GTGATTCTTGTCCATTCTTCA 0.448000 72 98 0 0 1 0 0 NTM 50863 broad.mit.edu 37 11 132180119 132180119 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:132180119G>A ENST00000374786.1 + 5 1254 c.775G>A c.(775-777)Gac>Aac p.D259N NTM_ENST00000474900.1_3'UTR|NTM_ENST00000374784.1_Missense_Mutation_p.D259N|NTM_ENST00000374791.3_Missense_Mutation_p.D259N|NTM_ENST00000425719.2_Missense_Mutation_p.D259N|NTM_ENST00000539799.1_Missense_Mutation_p.D259N|NTM_ENST00000427481.2_Missense_Mutation_p.D250N NM_001144058.1|NM_016522.2 NP_001137530.1|NP_057606.1 Q9P121 NTRI_HUMAN neurotrimin 259 Ig-like C2-type 3. cell adhesion|neuron recognition anchored to membrane|plasma membrane breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 56 GTACAAGGATGACAAAAGGTA 0.512000 92 139 0 0 1 0 0 NRG3 10718 broad.mit.edu 37 10 84745241 84745241 + Silent SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr10:84745241C>A ENST00000372142.2 + 11 1654 c.1380C>A c.(1378-1380)acC>acA p.T460T NRG3_ENST00000372141.2_Silent_p.T657T|NRG3_ENST00000404547.1_Silent_p.T681T|NRG3_ENST00000556918.1_Silent_p.T487T|NRG3_ENST00000537893.1_Silent_p.T307T|NRG3_ENST00000404576.2_Silent_p.T461T|NRG3_ENST00000545131.1_Silent_p.T307T NM_001165973.1 NP_001159445.1 P56975 NRG3_HUMAN neuregulin 3 681 regulation of cell growth extracellular region|integral to plasma membrane growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09) GCGTAGAAACCGAGGACAGTG 0.468000 14 36 0.0202918 0.0207734 1 1 0 PLEKHA8 84725 broad.mit.edu 37 7 30084792 30084792 + Missense_Mutation SNP A A G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr7:30084792A>G ENST00000449726.1 + 2 482 c.132A>G c.(130-132)atA>atG p.I44M PLEKHA8_ENST00000483799.1_3'UTR|PLEKHA8_ENST00000396257.2_Missense_Mutation_p.I44M|PLEKHA8_ENST00000396259.1_Missense_Mutation_p.I44M|PLEKHA8_ENST00000258679.7_Missense_Mutation_p.I44M NM_001197027.1 NP_001183956.1 Q96JA3 PKHA8_HUMAN pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8 44 PH. protein transport cytoplasm glycolipid binding|glycolipid transporter activity breast(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(1) 17 AAGGGAGCATACAAATGGCAG 0.428000 22 123 0 0 1 0 0 PSAT1 29968 broad.mit.edu 37 9 80923411 80923411 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr9:80923411G>T ENST00000376588.3 + 6 720 c.652G>T c.(652-654)Ggg>Tgg p.G218W PSAT1_ENST00000347159.2_Missense_Mutation_p.G218W NM_058179.2 NP_478059.1 Q9Y617 SERC_HUMAN phosphoserine aminotransferase 1 218 L-serine biosynthetic process|pyridoxine biosynthetic process O-phospho-L-serine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1) 20 L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165) TGACCTGCTGGGGTTTGCCCT 0.522000 31 51 1.99505e-19 2.92669e-19 1 1 0 TEP1 7011 broad.mit.edu 37 14 20849099 20849099 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr14:20849099C>T ENST00000262715.5 - 33 4793 c.4753G>A c.(4753-4755)Gcc>Acc p.A1585T TEP1_ENST00000556935.1_Missense_Mutation_p.A1477T|TEP1_ENST00000545983.1_5'UTR NM_007110.4 NP_009041.2 Q99973 TEP1_HUMAN telomerase-associated protein 1 1585 telomere maintenance via recombination chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex ATP binding|RNA binding NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 96 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;7.42e-08)|all cancers(55;6.46e-07) GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233) CCATAGAGGGCATGGGCCTCC 0.577000 4 44 0 0 1 0 0 MME 4311 broad.mit.edu 37 3 154855908 154855908 + Silent SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr3:154855908G>A ENST00000460393.1 + 9 858 c.738G>A c.(736-738)gtG>gtA p.V246V MME_ENST00000360490.2_Silent_p.V246V|MME_ENST00000492661.1_Silent_p.V246V|MME_ENST00000493237.1_Silent_p.V246V|MME_ENST00000462745.1_Silent_p.V246V NM_000902.3|NM_007287.2 NP_000893.2|NP_009218.2 P08473 NEP_HUMAN membrane metallo-endopeptidase 246 cell-cell signaling|proteolysis integral to plasma membrane metal ion binding|metalloendopeptidase activity|protein binding central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 64 all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122) LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135) Candoxatril(DB00616) CAGCATATGTGGATTTTATGA 0.338000 46 128 0 0 1 0 0 PDS5B 23047 broad.mit.edu 37 13 33344515 33344515 + Missense_Mutation SNP C C G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr13:33344515C>G ENST00000315596.10 + 32 4067 c.3881C>G c.(3880-3882)cCa>cGa p.P1294R NM_015032.3 NP_055847.1 Q9NTI5 PDS5B_HUMAN PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae) 1294 cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation chromatin|nucleus ATP binding|DNA binding|identical protein binding NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 62 Lung SC(185;0.0367) all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204) GGCCGACCACCAAAACCTCTT 0.428000 6 35 0 0 1 0 0 PRNP 5621 broad.mit.edu 37 20 4680058 4680058 + Silent SNP C C G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr20:4680058C>G ENST00000379440.4 + 2 479 c.192C>G c.(190-192)ggC>ggG p.G64G PRNP_ENST00000430350.2_Silent_p.G64G NM_000311.3|NM_001080121.1|NM_001080122.1|NM_001080123.1|NM_001271561.1|NM_183079.2 NP_000302.1|NP_001073590.1|NP_001073591.1|NP_001073592.1|NP_001258490.1|NP_898902.1 P04156 PRIO_HUMAN prion protein 64 5 X 8 AA tandem repeats of P-H-G-G-G-W-G- Q.|Interaction with GRB2, ERI3 and SYN1 (By similarity). axon guidance|cell cycle arrest|cellular copper ion homeostasis|metabolic process|negative regulation of activated T cell proliferation|negative regulation of calcineurin-NFAT signaling pathway|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-2 production|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T cell receptor signaling pathway|protein homooligomerization|response to oxidative stress anchored to membrane|endoplasmic reticulum|extrinsic to membrane|Golgi apparatus|membrane raft|nucleus|plasma membrane copper ion binding|identical protein binding|microtubule binding central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1) 14 Tetracycline(DB00759) ATGGTGGTGGCTGGGGGCAGC 0.706000 9 40 0 0 1 0 0 UBAP1 51271 broad.mit.edu 37 9 34249829 34249829 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr9:34249829C>T ENST00000536252.1 + 6 1534 c.1136C>T c.(1135-1137)cCc>cTc p.P379L UBAP1_ENST00000543944.1_Missense_Mutation_p.P415L|UBAP1_ENST00000359544.2_Missense_Mutation_p.P379L|UBAP1_ENST00000379186.4_Intron|UBAP1_ENST00000545103.1_Missense_Mutation_p.P443L|UBAP1_ENST00000540348.1_Missense_Mutation_p.P379L|UBAP1_ENST00000297661.4_Missense_Mutation_p.P379L NM_001171203.2 NP_001164674.1 Q9NZ09 UBAP1_HUMAN ubiquitin associated protein 1 379 cytoplasm endometrium(4)|kidney(2)|lung(6)|upper_aerodigestive_tract(1) 13 LUSC - Lung squamous cell carcinoma(29;0.00272) CCCAGCTGTCCCCAGGCCTAT 0.552000 19 70 0 0 1 0 0 POU2F1 5451 broad.mit.edu 37 1 167370762 167370762 + Silent SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:167370762C>T ENST00000367862.5 + 13 1726 c.1491C>T c.(1489-1491)acC>acT p.T497T POU2F1_ENST00000367866.2_Silent_p.T508T|POU2F1_ENST00000420254.3_Silent_p.T485T|POU2F1_ENST00000429375.2_Silent_p.T445T|POU2F1_ENST00000541643.3_Silent_p.T485T|POU2F1_ENST00000367865.1_3'UTR NM_001198783.1 NP_001185712.1 P14859 PO2F1_HUMAN POU class 2 homeobox 1 485 negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 30 TCCCTCTGACCAGTGCTGCTG 0.527000 OREG0013970 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 32 0 0 1 0 0 SNHG14 104472715 broad.mit.edu 37 15 25312992 25312992 + RNA SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr15:25312992G>T ENST00000549804.2 + 0 538 SNHG14_ENST00000551077.1_RNA|SNORD116-7_ENST00000384404.1_RNA CAAAATGAGTGAGAACTCATA 0.507000 29 61 5.77227e-19 8.38549e-19 1 1 0 UBE2I 7329 broad.mit.edu 37 16 1370540 1370540 + Silent SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr16:1370540G>T ENST00000402301.1 + 5 471 c.435G>T c.(433-435)ccG>ccT p.P145P UBE2I_ENST00000397514.3_Intron|UBE2I_ENST00000397515.2_Intron|UBE2I_ENST00000355803.4_Intron|UBE2I_ENST00000325437.5_Intron|LA16c-358B7.3_ENST00000568106.1_RNA|UBE2I_ENST00000566587.1_Intron|UBE2I_ENST00000406620.1_Intron|UBE2I_ENST00000403747.2_Intron|LA16c-358B7.3_ENST00000567829.1_RNA P63279 UBC9_HUMAN ubiquitin-conjugating enzyme E2I 0 cell division|chromosome segregation|interspecies interaction between organisms|mitosis|negative regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|protein sumoylation cytoplasm|PML body|synaptonemal complex ATP binding|enzyme binding|ubiquitin-protein ligase activity breast(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1) 5 Hepatocellular(780;0.00369) CCCTGGCCCCGCTGGTGGCAG 0.587000 15 51 5.3912e-06 6.07662e-06 1 1 0 CHRNA9 55584 broad.mit.edu 37 4 40351133 40351133 + Missense_Mutation SNP T T G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr4:40351133T>G ENST00000310169.2 + 4 739 c.600T>G c.(598-600)gaT>gaG p.D200E NM_017581.3 NP_060051.2 Q9UGM1 ACHA9_HUMAN cholinergic receptor, nicotinic, alpha 9 (neuronal) 200 elevation of cytosolic calcium ion concentration|synaptic transmission cell junction|postsynaptic membrane calcium channel activity|receptor activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1) 33 Nicotine(DB00184) TCATTGAAGATGTGGAATGGG 0.512000 6 212 0 0 1 0 0 TCP11 6954 broad.mit.edu 37 6 35107832 35107832 + Silent SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr6:35107832G>T ENST00000244645.3 - 3 514 c.15C>A c.(13-15)ggC>ggA p.G5G TCP11_ENST00000510465.1_Intron|TCP11_ENST00000373979.2_Silent_p.G5G|TCP11_ENST00000418521.2_Intron|TCP11_ENST00000512012.1_Intron|TCP11_ENST00000444780.2_Intron|TCP11_ENST00000373974.4_Intron|TCP11_ENST00000311875.5_Intron|TCP11_ENST00000412155.2_Intron NM_001261820.1|NM_001261821.1|NM_018679.5 NP_001248749.1|NP_001248750.1|NP_061149.1 Q8WWU5 TCP11_HUMAN t-complex 11, testis-specific 0 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane breast(1)|kidney(5)|large_intestine(3)|lung(10)|ovary(3)|prostate(1)|skin(4) 27 ACCCCAATATGCCTTTTGGTG 0.393000 OREG0017369 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 45 0.0215528 0.0220241 1 1 0 KRTAP5-10 387273 broad.mit.edu 37 11 71277061 71277061 + Missense_Mutation SNP A A G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:71277061A>G ENST00000398531.1 + 1 453 c.428A>G c.(427-429)aAt>aGt p.N143S KRTAP5-10_ENST00000376536.4_Missense_Mutation_p.N95S NM_001012710.1 NP_001012728.1 Q6L8G5 KR510_HUMAN keratin associated protein 5-10 143 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 TCCCAGTGCAATTGCTGTAAG 0.642000 71 294 0 0 1 0 0 TAF1A 9015 broad.mit.edu 37 1 222732098 222732098 + Silent SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:222732098C>T ENST00000350027.4 - 11 1410 c.1257G>A c.(1255-1257)cgG>cgA p.R419R TAF1A_ENST00000391882.1_Silent_p.R305R|TAF1A_ENST00000352967.4_Silent_p.R419R|TAF1A_ENST00000366890.1_Silent_p.R305R NM_001201536.1 NP_001188465.1 Q15573 TAF1A_HUMAN TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kDa 419 regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter RNA polymerase I transcription factor complex DNA binding kidney(3)|large_intestine(3)|lung(11)|urinary_tract(1) 18 GBM - Glioblastoma multiforme(131;0.0186) TTAAAATATACCGGAAATATC 0.274000 10 41 0 0 1 0 0 ILDR2 387597 broad.mit.edu 37 1 166904558 166904558 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:166904558G>T ENST00000271417.3 - 6 915 c.860C>A c.(859-861)tCc>tAc p.S287Y ILDR2_ENST00000525740.1_Intron|ILDR2_ENST00000528703.1_Intron|ILDR2_ENST00000529071.1_Missense_Mutation_p.S268Y|ILDR2_ENST00000529387.1_Intron|ILDR2_ENST00000469934.2_Missense_Mutation_p.S287Y|ILDR2_ENST00000526687.1_Intron NM_199351.2 NP_955383.1 Q71H61 ILDR2_HUMAN immunoglobulin-like domain containing receptor 2 287 integral to membrane NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 22 TCCTCCAGTGGAGTCACTTGG 0.577000 31 88 1.61788e-16 2.29242e-16 1 1 0 TMC8 147138 broad.mit.edu 37 17 76130053 76130053 + Missense_Mutation SNP A A T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr17:76130053A>T ENST00000318430.5 + 7 1162 c.788A>T c.(787-789)aAg>aTg p.K263M TMC8_ENST00000589691.1_Missense_Mutation_p.K40M NM_152468.4 NP_689681.2 Q8IU68 TMC8_HUMAN transmembrane channel-like 8 263 endoplasmic reticulum membrane|integral to membrane breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 12 BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192) GCCACCATCAAGAAGCATGAG 0.572000 17 66 0 0 1 0 0 CEP128 145508 broad.mit.edu 37 14 81380710 81380710 + Nonsense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr14:81380710G>A ENST00000555265.1 - 4 565 c.190C>T c.(190-192)Cga>Tga p.R64* CEP128_ENST00000216517.6_Nonsense_Mutation_p.R64*|CEP128_ENST00000281129.3_Nonsense_Mutation_p.R64*|CEP128_ENST00000327841.2_Nonsense_Mutation_p.R4* Q6ZU80 CE128_HUMAN centrosomal protein 128kDa 64 centriole|spindle pole NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 51 TCTCGGTATCGTCCAAGCATC 0.403000 7 118 0 0 1 0 0 TSPAN12 23554 broad.mit.edu 37 7 120455809 120455809 + Missense_Mutation SNP C C T rs143445702 TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr7:120455809C>T ENST00000222747.3 - 5 941 c.334G>A c.(334-336)Gtt>Att p.V112I TSPAN12_ENST00000415871.1_Missense_Mutation_p.V112I NM_012338.3 NP_036470.1 O95859 TSN12_HUMAN tetraspanin 12 112 angiogenesis|cell surface receptor linked signaling pathway|regulation of angiogenesis|retina layer formation integral to plasma membrane|membrane fraction endometrium(3)|kidney(1)|lung(4)|ovary(1)|skin(1) 10 all_neural(327;0.117) TATGTCCAAACGCCACAAGCC 0.333000 6 19 0 0 1 0 0 ALPK2 115701 broad.mit.edu 37 18 56202928 56202928 + Silent SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr18:56202928G>T ENST00000361673.3 - 5 4704 c.4491C>A c.(4489-4491)ccC>ccA p.P1497P RP11-1151B14.4_ENST00000591360.1_RNA NM_052947.3 NP_443179.3 Q86TB3 ALPK2_HUMAN alpha-kinase 2 1497 ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2) 84 CGCCTTCGCTGGGTTGCAGGA 0.473000 20 39 4.35082e-09 5.30662e-09 1 1 0 PTPRZ1 5803 broad.mit.edu 37 7 121671535 121671535 + Silent SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr7:121671535C>T ENST00000393386.2 + 15 5499 c.5088C>T c.(5086-5088)gtC>gtT p.V1696V PTPRZ1_ENST00000449182.1_Silent_p.V836V NM_001206838.1|NM_002851.2 NP_001193767.1|NP_002842.2 P23471 PTPRZ_HUMAN protein tyrosine phosphatase, receptor-type, Z polypeptide 1 1696 central nervous system development integral to plasma membrane protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 106 TAGATGATGTCGGAGCAATTC 0.313000 8 44 0 0 1 0 0 ADCY3 109 broad.mit.edu 37 2 25054603 25054603 + Silent SNP A A G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr2:25054603A>G ENST00000260600.5 - 11 2834 c.1983T>C c.(1981-1983)taT>taC p.Y661Y ADCY3_ENST00000405392.1_Silent_p.Y294Y|ADCY3_ENST00000450524.1_5'UTR NM_004036.3 NP_004027.2 O60266 ADCY3_HUMAN adenylate cyclase 3 661 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|sensory perception of smell|synaptic transmission|transmembrane transport|water transport cytoplasm|integral to plasma membrane ATP binding|calmodulin binding|metal ion binding NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2) 44 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203) TGAAGGTCACATAGTTTGTCA 0.557000 7 26 0 0 1 0 0 ZNF425 155054 broad.mit.edu 37 7 148801757 148801757 + Silent SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr7:148801757G>A ENST00000378061.2 - 4 1338 c.1206C>T c.(1204-1206)gaC>gaT p.D402D NM_001001661.2 NP_001001661.1 Q6IV72 ZN425_HUMAN zinc finger protein 425 402 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 50 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00463) TGATGTGCTCGTCCAGCTTAA 0.532000 19 138 0 0 1 0 0 LPAR4 2846 broad.mit.edu 37 X 78011192 78011192 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chrX:78011192C>A ENST00000435339.2 + 2 1231 c.826C>A c.(826-828)Cgc>Agc p.R276S LPAR4_ENST00000373301.2_Missense_Mutation_p.R276S NM_005296.2 NP_005287.1 Q99677 LPAR4_HUMAN lysophosphatidic acid receptor 4 276 integral to plasma membrane lipid binding|purinergic nucleotide receptor activity, G-protein coupled breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 38 TGCCCTGGTGCGCTCCCAAGC 0.403000 5 32 0.014758 0.0151151 1 1 0 P2RX1 5023 broad.mit.edu 37 17 3801387 3801387 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr17:3801387G>T ENST00000225538.3 - 11 1324 c.1050C>A c.(1048-1050)gaC>gaA p.D350E NM_002558.2 NP_002549.1 P51575 P2RX1_HUMAN purinergic receptor P2X, ligand-gated ion channel, 1 350 platelet activation integral to plasma membrane calcium channel activity|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2) 13 LUAD - Lung adenocarcinoma(2;1.9e-05)|Lung(3;0.0173) GCAGCAGCAGGTCACAGAGAA 0.607000 10 58 0.010729 0.0110442 1 1 0 NPC1 4864 broad.mit.edu 37 18 21115556 21115556 + Silent SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr18:21115556G>T ENST00000269228.5 - 22 3908 c.3354C>A c.(3352-3354)ggC>ggA p.G1118G NPC1_ENST00000412552.2_Silent_p.G800G NM_000271.4 NP_000262.2 O15118 NPC1_HUMAN Niemann-Pick disease, type C1 1118 autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm hedgehog receptor activity|protein binding|sterol transporter activity breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1) 38 all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127) AGAGCTCACAGCCCAGGAGGA 0.527000 9 33 0.000274275 0.000293932 1 1 0 IPPK 64768 broad.mit.edu 37 9 95397468 95397468 + Nonsense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr9:95397468G>A ENST00000287996.3 - 10 1315 c.1039C>T c.(1039-1041)Cga>Tga p.R347* IPPK_ENST00000375522.1_Nonsense_Mutation_p.R19* NM_022755.5 NP_073592.1 Q9H8X2 IPPK_HUMAN inositol 1,3,4,5,6-pentakisphosphate 2-kinase 347 inositol or phosphatidylinositol phosphorylation cytoplasm|nucleus ATP binding|inositol pentakisphosphate 2-kinase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(2)|urinary_tract(1) 15 TCCAGGTATCGCTCAACCCGG 0.597000 OREG0019315 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 22 36 0 0 1 0 0 GPR88 54112 broad.mit.edu 37 1 101005566 101005566 + Silent SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:101005566C>T ENST00000315033.4 + 2 1483 c.1044C>T c.(1042-1044)cgC>cgT p.R348R NM_022049.2 NP_071332.2 Q9GZN0 GPR88_HUMAN G protein-coupled receptor 88 348 integral to membrane|plasma membrane G-protein coupled receptor activity large_intestine(2)|skin(1) 3 all_epithelial(167;1.19e-05)|all_lung(203;0.00159)|Lung NSC(277;0.00171) Epithelial(280;0.0372)|all cancers(265;0.0558)|COAD - Colon adenocarcinoma(174;0.141)|Colorectal(144;0.156)|Lung(183;0.189) GCTCCGTGCGCTCAGTCCTGC 0.751000 5 11 0 0 1 0 0 PROKR1 10887 broad.mit.edu 37 2 68873024 68873024 + Missense_Mutation SNP A A T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr2:68873024A>T ENST00000303786.3 + 2 491 c.71A>T c.(70-72)aAc>aTc p.N24I PROKR1_ENST00000394342.2_Missense_Mutation_p.N24I Q8TCW9 PKR1_HUMAN prokineticin receptor 1 24 integral to membrane|plasma membrane neuropeptide Y receptor activity endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 TCTGTGCTCAACCCTCATGGA 0.522000 27 121 0 0 1 0 0 GPR12 2835 broad.mit.edu 37 13 27333176 27333176 + Nonsense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr13:27333176G>T ENST00000405846.3 - 2 1010 c.789C>A c.(787-789)tgC>tgA p.C263* GPR12_ENST00000381436.2_Nonsense_Mutation_p.C263* NM_005288.3 NP_005279.1 P47775 GPR12_HUMAN G protein-coupled receptor 12 263 integral to plasma membrane endometrium(7)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 33 Colorectal(5;5.77e-05) Breast(139;0.198) Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184) AAGGCATCCAGCAAGCAGCAA 0.562000 11 37 0.000673444 0.000712181 1 1 0 SLC30A9 10463 broad.mit.edu 37 4 42065120 42065120 + Silent SNP A A C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr4:42065120A>C ENST00000264451.6 + 11 1194 c.1014A>C c.(1012-1014)ccA>ccC p.P338P NM_006345.3 NP_006336.3 Q6PML9 ZNT9_HUMAN solute carrier family 30 (zinc transporter), member 9 338 nucleotide-excision repair|zinc ion transport cytoskeleton|integral to membrane|nucleus cation transmembrane transporter activity|nucleotide binding|sequence-specific DNA binding transcription factor activity central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 ATCCTCAACCAATAGAATCCC 0.403000 18 72 0 0 1 0 0 RAVER2 55225 broad.mit.edu 37 1 65278497 65278497 + Missense_Mutation SNP A A T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:65278497A>T ENST00000294428.3 + 10 1835 c.1757A>T c.(1756-1758)aAt>aTt p.N586I RAVER2_ENST00000430964.2_Missense_Mutation_p.N125I|RAVER2_ENST00000371072.4_Missense_Mutation_p.N573I Q9HCJ3 RAVR2_HUMAN ribonucleoprotein, PTB-binding 2 586 cytoplasm|nucleus nucleotide binding|RNA binding breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 24 CCATACTTGAATTTGGCAAGT 0.378000 5 73 0 0 1 0 0 TUBB8 347688 broad.mit.edu 37 10 93910 93910 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr10:93910C>A ENST00000447903.2 - 4 521 c.206G>T c.(205-207)gGg>gTg p.G69V TUBB8_ENST00000332708.5_3'UTR|TUBB8_ENST00000309812.4_Missense_Mutation_p.G141V|TUBB8_ENST00000413237.3_5'UTR Q3ZCM7 TBB8_HUMAN tubulin, beta 8 class VIII 141 microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1) 32 all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235) Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132) CCCAGTCCCCCCACCCAGGGA 0.587000 14 66 2.23348e-06 2.543e-06 1 1 0 ANO4 121601 broad.mit.edu 37 12 101381337 101381337 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr12:101381337G>T ENST00000392979.3 + 7 879 c.518G>T c.(517-519)aGg>aTg p.R173M ANO4_ENST00000299222.9_5'UTR|ANO4_ENST00000538618.1_3'UTR|ANO4_ENST00000392977.3_Missense_Mutation_p.R208M NM_178826.3 NP_849148.2 Q32M45 ANO4_HUMAN anoctamin 4 208 chloride channel complex chloride channel activity NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1) 78 CAAATAAGCAGGTTTCGGAGA 0.512000 HNSCC(74;0.22) OREG0022059 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 156 306 1.71482e-75 2.79734e-75 1 1 0 LRP4 4038 broad.mit.edu 37 11 46893175 46893175 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:46893175C>A ENST00000378623.1 - 31 4835 c.4593G>T c.(4591-4593)tgG>tgT p.W1531C LRP4-AS1_ENST00000531719.1_RNA|LRP4-AS1_ENST00000502049.2_RNA NM_002334.3 NP_002325.2 O75096 LRP4_HUMAN low density lipoprotein receptor-related protein 4 1531 endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway integral to membrane calcium ion binding|receptor activity breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 70 Lung(87;0.159) GCGCATCCACCCAGTAGATCC 0.572000 6 20 0.0293803 0.0299002 1 1 0 ME3 10873 broad.mit.edu 37 11 86270865 86270865 + Splice_Site SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:86270865C>A ENST00000543262.1 - 3 510 c.183_splice c.e3-1 p.G62_splice ME3_ENST00000393324.3_Splice_Site_p.G62_splice|RP11-317J19.1_ENST00000524610.1_RNA|ME3_ENST00000359636.2_Splice_Site_p.G62_splice NM_001161586.1 NP_001155058.1 Q16798 MAON_HUMAN malic enzyme 3, NADP(+)-dependent, mitochondrial 62 aerobic respiration|malate metabolic process|oxygen metabolic process|pyruvate metabolic process mitochondrial matrix malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|metal ion binding|NAD binding endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|skin(3)|stomach(2)|urinary_tract(1) 27 Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252) NADH(DB00157) AAGGCCATCCCCTGGGAAAAA 0.522000 21 92 1.28384e-07 1.51561e-07 1 1 0 OSMR 9180 broad.mit.edu 37 5 38885506 38885506 + Silent SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr5:38885506G>A ENST00000274276.3 + 6 1161 c.759G>A c.(757-759)ttG>ttA p.L253L OSMR_ENST00000502536.1_Silent_p.L253L NM_003999.2 NP_003990.1 Q99650 OSMR_HUMAN oncostatin M receptor 253 cell proliferation|positive regulation of cell proliferation oncostatin-M receptor complex growth factor binding|oncostatin-M receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 46 all_lung(31;0.000365) TCAAGACTTTGCACTGTACTT 0.438000 15 186 0 0 1 0 0 VSTM2A 222008 broad.mit.edu 37 7 54610494 54610494 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr7:54610494C>T ENST00000302287.3 + 1 477 c.71C>T c.(70-72)tCt>tTt p.S24F VSTM2A_ENST00000407838.3_Missense_Mutation_p.S24F|VSTM2A_ENST00000402613.3_Missense_Mutation_p.S24F|VSTM2A_ENST00000404951.1_Missense_Mutation_p.S24F|VSTM2A_ENST00000402026.2_Missense_Mutation_p.S23F Q8TAG5 VTM2A_HUMAN V-set and transmembrane domain containing 2A 24 extracellular region endometrium(1)|large_intestine(2)|lung(12)|prostate(1) 16 STAD - Stomach adenocarcinoma(5;0.0525) CAAGGGCTTTCTTCTCAAGGT 0.398000 46 60 0 0 1 0 0 ADAMTS2 9509 broad.mit.edu 37 5 178699972 178699972 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr5:178699972C>A ENST00000251582.7 - 3 729 c.628G>T c.(628-630)Gtg>Ttg p.V210L ADAMTS2_ENST00000274609.5_Missense_Mutation_p.V210L NM_014244.4 NP_055059.2 O95450 ATS2_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 2 210 collagen catabolic process proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7) 72 all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326) all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GBM - Glioblastoma multiforme(465;0.0473) CGATACACCACATGCACACGG 0.667000 33 32 8.4185e-14 1.1382e-13 1 1 0 CASKIN2 57513 broad.mit.edu 37 17 73499758 73499758 + Nonsense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr17:73499758C>T ENST00000321617.3 - 16 2248 c.1662G>A c.(1660-1662)tgG>tgA p.W554* CASKIN2_ENST00000433559.2_Nonsense_Mutation_p.W472* NM_020753.3 NP_065804.2 Q8WXE0 CSKI2_HUMAN CASK interacting protein 2 554 cytoplasm endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 18 all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246) all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154) AGCTGGGCAGCCACTCGGCGA 0.622000 8 55 0 0 1 0 0 TLR2 7097 broad.mit.edu 37 4 154625707 154625707 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr4:154625707G>A ENST00000260010.6 + 1 3056 c.1648G>A c.(1648-1650)Gca>Aca p.A550T NM_003264.3 NP_003255.2 O60603 TLR2_HUMAN toll-like receptor 2 550 cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 29 all_hematologic(180;0.093) Renal(120;0.117) GGAGCAGCAAGCACTGGCCAA 0.507000 12 97 0 0 1 0 0 CD300LG 146894 broad.mit.edu 37 17 41931257 41931257 + Silent SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr17:41931257C>A ENST00000317310.4 + 4 605 c.564C>A c.(562-564)tcC>tcA p.S188S CD300LG_ENST00000539718.1_Silent_p.S188S|CD300LG_ENST00000586233.1_Intron|CD300LG_ENST00000377203.4_Silent_p.S154S|CD300LG_ENST00000293396.8_Intron NM_145273.3 NP_660316.2 Q6UXG3 CLM9_HUMAN CD300 molecule-like family member g 188 apical plasma membrane|basolateral plasma membrane|integral to membrane|multivesicular body membrane receptor activity central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|skin(4) 19 Breast(137;0.0199) BRCA - Breast invasive adenocarcinoma(366;0.115) CAGGGACTTCCCAGTACGGGC 0.622000 30 62 2.65835e-16 3.7572e-16 1 1 0 PTPN21 11099 broad.mit.edu 37 14 88945516 88945516 + Silent SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr14:88945516C>T ENST00000556564.1 - 13 2543 c.2259G>A c.(2257-2259)ggG>ggA p.G753G PTPN21_ENST00000328736.3_Silent_p.G753G NM_007039.3 NP_008970.2 Q16825 PTN21_HUMAN protein tyrosine phosphatase, non-receptor type 21 753 cytoplasm|cytoskeleton binding|protein tyrosine phosphatase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 TGTGCAGGGGCCCGGCGAGCA 0.751000 29 34 0 0 1 0 0 FFAR2 2867 broad.mit.edu 37 19 35941406 35941406 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:35941406C>T ENST00000599180.1 + 2 870 c.790C>T c.(790-792)Ctc>Ttc p.L264F FFAR2_ENST00000601590.1_Intron|FFAR2_ENST00000246549.2_Missense_Mutation_p.L264F O15552 FFAR2_HUMAN free fatty acid receptor 2 264 integral to plasma membrane G-protein coupled receptor activity|lipid binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1) 22 all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) GTTCAGTTCACTCAACGCCAG 0.572000 57 112 0 0 1 0 0 ZNF584 201514 broad.mit.edu 37 19 58928347 58928347 + Silent SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:58928347G>T ENST00000306910.4 + 4 985 c.462G>T c.(460-462)gtG>gtT p.V154V ZNF584_ENST00000593920.1_Silent_p.V109V|ZNF584_ENST00000596921.1_3'UTR|ZNF584_ENST00000322834.7_3'UTR|ZNF584_ENST00000599238.1_3'UTR NM_173548.1 NP_775819.1 Q8IVC4 ZN584_HUMAN zinc finger protein 584 154 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 14 all_cancers(17;5.3e-17)|all_epithelial(17;3.71e-12)|Lung NSC(17;8.3e-05)|Colorectal(82;0.000147)|all_lung(17;0.000386)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0271) AAGTCCATGTGGCAGAGAAGC 0.512000 18 44 1.45105e-14 1.99187e-14 1 1 0 C6orf10 10665 broad.mit.edu 37 6 32261734 32261734 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr6:32261734G>T ENST00000375015.4 - 26 913 c.713C>A c.(712-714)aCt>aAt p.T238N C6orf10_ENST00000442822.2_Missense_Mutation_p.T230N|C6orf10_ENST00000447241.2_Missense_Mutation_p.T239N|C6orf10_ENST00000533191.1_Missense_Mutation_p.T237N|C6orf10_ENST00000375007.4_Missense_Mutation_p.T237N|C6orf10_ENST00000527965.1_Missense_Mutation_p.T223N Q5SRN2 CF010_HUMAN chromosome 6 open reading frame 10 239 integral to membrane cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1) 25 AGACCTTGCAGTGCCTCCACA 0.368000 18 55 6.94344e-10 8.6523e-10 1 1 0 UNC45A 55898 broad.mit.edu 37 15 91491409 91491409 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr15:91491409C>T ENST00000394275.2 + 15 2423 c.1588C>T c.(1588-1590)Cgc>Tgc p.R530C UNC45A_ENST00000418476.2_Missense_Mutation_p.R545C NM_001039675.1 NP_001034764.1 Q9H3U1 UN45A_HUMAN unc-45 homolog A (C. elegans) 545 cell differentiation|muscle organ development nucleus|perinuclear region of cytoplasm protein binding breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.189) AGGCACTCGGCGCTGGGCAGT 0.607000 19 124 0 0 1 0 0 MSN 4478 broad.mit.edu 37 X 64959654 64959654 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chrX:64959654C>A ENST00000360270.5 + 13 1805 c.1633C>A c.(1633-1635)Cat>Aat p.H545N MSN_ENST00000486030.1_3'UTR NM_002444.2 NP_002435.1 P26038 MOES_HUMAN moesin 545 leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking apical plasma membrane|cytoskeleton|extrinsic to membrane|microvillus membrane|nucleolus cell adhesion molecule binding|receptor binding|structural constituent of cytoskeleton MSN/ALK(6) breast(4)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1) 43 TGACATGATCCATGCTGAGAA 0.527000 T ALK ALCL 21 89 6.33239e-15 8.74064e-15 1 1 0 TJP3 27134 broad.mit.edu 37 19 3750666 3750666 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:3750666C>T ENST00000541714.2 + 21 3206 c.2744C>T c.(2743-2745)cCg>cTg p.P915L TJP3_ENST00000539908.2_Missense_Mutation_p.P879L|TJP3_ENST00000262968.9_Missense_Mutation_p.P948L|TJP3_ENST00000587641.1_3'UTR|TJP3_ENST00000589378.1_Missense_Mutation_p.P924L|TJP3_ENST00000587686.1_Missense_Mutation_p.P934L|TJP3_ENST00000382008.3_Missense_Mutation_p.P929L NM_001267560.1 NP_001254489.1 O95049 ZO3_HUMAN tight junction protein 3 929 tight junction protein binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 26 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18) GACTGGGGTCCGGCCACTGAC 0.562000 3 8 0 0 1 0 0 ZNF48 197407 broad.mit.edu 37 16 30409299 30409299 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr16:30409299G>T ENST00000320159.2 + 2 1104 c.728G>T c.(727-729)cGg>cTg p.R243L NM_001214906.1|NM_001214907.1|NM_001214909.1|NM_152652.2 NP_001201835.1|NP_001201836.1|NP_001201838.1|NP_689865.2 Q96MX3 ZNF48_HUMAN zinc finger protein 48 243 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R243L(1) breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)|pancreas(1)|skin(1) 21 CGGACACACCGGGGGGAGCAG 0.652000 45 40 3.7052e-28 5.75538e-28 1 1 0 KIAA1210 57481 broad.mit.edu 37 X 118223042 118223042 + Silent SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chrX:118223042G>T ENST00000402510.2 - 11 2150 c.2151C>A c.(2149-2151)tcC>tcA p.S717S NM_020721.1 NP_065772.1 Q9ULL0 K1210_HUMAN KIAA1210 717 breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 64 ACTCCATTTTGGATTGGGCCT 0.413000 8 60 0.00448238 0.00467627 1 1 0 TAPT1-AS1 202020 broad.mit.edu 37 4 16257879 16257879 + RNA SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr4:16257879G>A ENST00000570786.1 + 0 234 TAPT1-AS1_ENST00000573308.1_RNA|TAPT1-AS1_ENST00000573950.1_RNA NR_027696.1 TTTTTTTTTAGGTTTTCACTA 0.383000 3 2 0 0 1 0 0 VCL 7414 broad.mit.edu 37 10 75865108 75865108 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr10:75865108C>T ENST00000211998.4 + 16 2525 c.2431C>T c.(2431-2433)Cct>Tct p.P811S VCL_ENST00000417648.2_Intron|VCL_ENST00000372755.3_Missense_Mutation_p.P811S NM_014000.2 NP_054706.1 P18206 VINC_HUMAN vinculin 811 N-terminal globular head. adherens junction assembly|apical junction assembly|cell-matrix adhesion|cellular component movement|epithelial cell-cell adhesion|lamellipodium assembly|morphogenesis of an epithelium|muscle contraction|negative regulation of cell migration|platelet activation|platelet degranulation|protein localization at cell surface costamere|cytosol|extracellular region|focal adhesion actin binding|alpha-catenin binding|beta-catenin binding|beta-dystroglycan binding|cadherin binding|structural molecule activity VCL/ALK(4) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1) 20 Prostate(51;0.0112) CATTTCCGACCCTGGTAAGCA 0.493000 11 50 0 0 1 0 0 IDO2 169355 broad.mit.edu 37 8 39872815 39872815 + Silent SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr8:39872815C>A ENST00000502986.2 + 11 1199 c.957C>A c.(955-957)gcC>gcA p.A319A IDO2_ENST00000389060.4_Silent_p.A306A|IDO2_ENST00000343295.4_3'UTR NM_194294.2 NP_919270.2 Q6ZQW0 I23O2_HUMAN indoleamine 2,3-dioxygenase 2 306 tryptophan catabolic process to kynurenine cytosol heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1) 18 CCCATAAGGCCTTCATAGAAG 0.473000 3 38 1 1 1 1 0 ASB16 92591 broad.mit.edu 37 17 42249669 42249669 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr17:42249669C>A ENST00000293414.1 + 2 641 c.557C>A c.(556-558)cCc>cAc p.P186H NM_080863.4 NP_543139.4 Q96NS5 ASB16_HUMAN ankyrin repeat and SOCS box containing 16 186 intracellular signal transduction protein binding central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|liver(2)|lung(2)|prostate(1) 14 Breast(137;0.00765)|Prostate(33;0.0313) BRCA - Breast invasive adenocarcinoma(366;0.114) TGCACGATCCCCGAGTCCTTG 0.582000 13 36 6.72482e-11 8.5752e-11 1 1 0 NSDHL 50814 broad.mit.edu 37 X 152027360 152027360 + Missense_Mutation SNP C C T rs104894909 TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chrX:152027360C>T ENST00000370274.3 + 4 508 c.314C>T c.(313-315)gCg>gTg p.A105V NSDHL_ENST00000440023.1_Missense_Mutation_p.A105V NM_015922.2 NP_057006.1 Q15738 NSDHL_HUMAN NAD(P) dependent steroid dehydrogenase-like 105 A -> V (in CHILD). cholesterol biosynthetic process endoplasmic reticulum membrane|integral to membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|C-3 sterol dehydrogenase (C-4 sterol decarboxylase) activity|sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(5) 15 Acute lymphoblastic leukemia(192;6.56e-05) NADH(DB00157) TTCCACTGTGCGTCACCCCCA 0.438000 7 81 0 0 1 0 0 ESR1 2099 broad.mit.edu 37 6 152265351 152265351 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr6:152265351G>T ENST00000440973.1 + 6 1174 c.804G>T c.(802-804)aaG>aaT p.K268N ESR1_ENST00000338799.5_Missense_Mutation_p.K268N|ESR1_ENST00000482101.1_3'UTR|ESR1_ENST00000456483.2_Intron|ESR1_ENST00000406599.1_Intron|ESR1_ENST00000206249.3_Missense_Mutation_p.K268N|ESR1_ENST00000443427.1_Missense_Mutation_p.K268N|ESR1_ENST00000544394.1_Missense_Mutation_p.K95N NM_001122742.1 NP_001116214.1 P03372 ESR1_HUMAN estrogen receptor 1 268 Hinge.|Interaction with AKAP13.|Mediates interaction with DNTTIP2. positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus chromatin remodeling complex|cytoplasm|nucleoplasm beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1) 49 Ovarian(120;0.0448) BRCA - Breast invasive adenocarcinoma(37;0.0841) OV - Ovarian serous cystadenocarcinoma(155;4.55e-10) Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539) TGAAACACAAGCGCCAGAGAG 0.468000 32 45 8.88839e-20 1.30732e-19 1 1 0 DSG3 1830 broad.mit.edu 37 18 29054177 29054177 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr18:29054177G>T ENST00000257189.4 + 15 2278 c.2195G>T c.(2194-2196)gGa>gTa p.G732V NM_001944.2 NP_001935.2 P32926 DSG3_HUMAN desmoglein 3 732 cellular component disassembly involved in apoptosis|homophilic cell adhesion cytosol|desmosome|integral to membrane calcium ion binding breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(10;0.00504) ACTGAATCTGGAGGTGCTGCA 0.522000 39 43 4.14481e-20 6.10828e-20 1 1 0 PRICKLE2 166336 broad.mit.edu 37 3 64132744 64132744 + Silent SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr3:64132744C>A ENST00000295902.6 - 7 2007 c.1422G>T c.(1420-1422)ccG>ccT p.P474P PRICKLE2_ENST00000564377.1_Silent_p.P530P NM_198859.3 NP_942559.1 Q7Z3G6 PRIC2_HUMAN prickle homolog 2 (Drosophila) 474 cytoplasm|nuclear membrane zinc ion binding breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1) 32 Lung NSC(201;0.136) BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497) TCAGCCTCCCCGGGTAATAGT 0.532000 42 45 2.95478e-19 4.31482e-19 1 1 0 SLCO1A2 6579 broad.mit.edu 37 12 21422688 21422688 + Nonsense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr12:21422688C>A ENST00000307378.6 - 16 2527 c.1807G>T c.(1807-1809)Gga>Tga p.G603* SLCO1A2_ENST00000537524.1_Nonsense_Mutation_p.G471*|SLCO1A2_ENST00000458504.1_Nonsense_Mutation_p.G471*|SLCO1A2_ENST00000452078.1_Nonsense_Mutation_p.G603* NM_134431.3 NP_602307.1 P46721 SO1A2_HUMAN solute carrier organic anion transporter family, member 1A2 603 bile acid metabolic process|sodium-independent organic anion transport integral to membrane|plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1) 48 GCCGGCAATCCGAGGTAGATG 0.333000 18 56 1.45105e-14 1.99187e-14 1 1 0 PIAS2 9063 broad.mit.edu 37 18 44435527 44435527 + Splice_Site SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr18:44435527C>T ENST00000585916.1 - 4 635 c.e4+1 PIAS2_ENST00000324794.7_Splice_Site|PIAS2_ENST00000545673.1_Splice_Site NM_004671.3 NP_004662.2 O75928 PIAS2_HUMAN protein inhibitor of activated STAT, 2 androgen receptor signaling pathway|negative regulation of androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck|PML body androgen receptor binding|DNA binding|protein binding|SUMO ligase activity|transcription coactivator activity|zinc ion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 22 TTCAAACTCACCTCAACTGAA 0.323000 9 22 0 0 1 0 0 KCNT2 343450 broad.mit.edu 37 1 196438127 196438127 + Silent SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:196438127G>T ENST00000367433.5 - 6 557 c.456C>A c.(454-456)atC>atA p.I152I KCNT2_ENST00000451324.2_5'UTR|KCNT2_ENST00000294725.8_Silent_p.I152I|KCNT2_ENST00000367431.4_Silent_p.I152I Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 152 voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1) 97 GACTTACTGAGATAATGAAGG 0.289000 5 5 0.014758 0.0151151 1 1 0 DST 667 broad.mit.edu 37 6 56336886 56336886 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr6:56336886G>A ENST00000370754.5 - 94 22035 c.22036C>T c.(22036-22038)Ctc>Ttc p.L7346F DST_ENST00000370769.4_Missense_Mutation_p.L7168F|DST_ENST00000446842.2_Missense_Mutation_p.L6842F|DST_ENST00000370788.2_Missense_Mutation_p.L4971F|DST_ENST00000361203.3_Missense_Mutation_p.L7057F|DST_ENST00000312431.6_3'UTR|DST_ENST00000244364.6_Missense_Mutation_p.L4754F|DST_ENST00000421834.2_Intron Q03001 DYST_HUMAN dystonin 7166 GAR. cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) GCATCATTGAGTTTCCTCCTT 0.453000 28 165 0 0 1 0 0 MRC2 9902 broad.mit.edu 37 17 60758180 60758180 + Silent SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr17:60758180C>T ENST00000303375.5 + 17 2895 c.2493C>T c.(2491-2493)cgC>cgT p.R831R NM_006039.4 NP_006030.2 Q9UBG0 MRC2_HUMAN mannose receptor, C type 2 831 endocytosis integral to membrane receptor activity|sugar binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3) 53 AATGGCTGCGCTTCCAGGAGG 0.721000 7 27 0 0 1 0 0 CORO7 79585 broad.mit.edu 37 16 4455510 4455510 + Silent SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr16:4455510C>A ENST00000251166.4 - 6 691 c.546G>T c.(544-546)ctG>ctT p.L182L CORO7_ENST00000423908.2_Intron|CORO7_ENST00000574025.1_Silent_p.L97L|CORO7_ENST00000539968.1_5'UTR|CORO7_ENST00000537233.2_Silent_p.L164L|CORO7-PAM16_ENST00000572467.1_Silent_p.L182L NM_024535.4 NP_078811.3 coronin 7 breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2) 23 CCGTGCCCACCAGGGCTCCAT 0.697000 6 56 3.59834e-05 3.95641e-05 1 1 0 CACNA1A 773 broad.mit.edu 37 19 13563771 13563771 + Missense_Mutation SNP A A G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:13563771A>G ENST00000360228.5 - 3 457 c.458T>C c.(457-459)aTt>aCt p.I153T CACNA1A_ENST00000573710.2_Missense_Mutation_p.I153T NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2 NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2 O00555 CAC1A_HUMAN calcium channel, voltage-dependent, P/Q type, alpha 1A subunit 153 cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) CCCAAGGGCAATGATTTTAAT 0.493000 47 131 0 0 1 0 0 SLC7A8 23428 broad.mit.edu 37 14 23596404 23596404 + Silent SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr14:23596404C>T ENST00000316902.7 - 11 2315 c.1590G>A c.(1588-1590)gcG>gcA p.A530A SLC7A8_ENST00000422941.2_Silent_p.A306A|SLC7A8_ENST00000529705.2_Silent_p.A425A|SLC7A8_ENST00000469263.1_3'UTR|SLC7A8_ENST00000453702.1_Silent_p.A327A NM_012244.3 NP_036376.2 Q9UHI5 LAT2_HUMAN solute carrier family 7 (amino acid transporter light chain, L system), member 8 530 blood coagulation|cellular amino acid metabolic process|leukocyte migration|metal ion homeostasis|response to toxin basolateral plasma membrane|cytoplasm|integral to plasma membrane neutral amino acid transmembrane transporter activity|organic cation transmembrane transporter activity|peptide antigen binding|protein binding|toxin transporter activity autonomic_ganglia(1)|endometrium(6)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|skin(1) 24 all_cancers(95;4.6e-05) GBM - Glioblastoma multiforme(265;0.00809) L-Alanine(DB00160)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120) GGGGCTGCCCCGCCACGTCCT 0.617000 22 52 0 0 1 0 0 MAP3K11 4296 broad.mit.edu 37 11 65380566 65380566 + Missense_Mutation SNP T T C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:65380566T>C ENST00000309100.3 - 1 1147 c.662A>G c.(661-663)cAg>cGg p.Q221R NM_002419.3 NP_002410.1 Q16584 M3K11_HUMAN mitogen-activated protein kinase kinase kinase 11 221 Protein kinase. activation of JUN kinase activity|cell proliferation|G1 phase of mitotic cell cycle|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation centrosome|microtubule ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(14)|skin(1) 24 ACGGGCAATCTGCACAGCCCA 0.637000 14 59 0 0 1 0 0 CTSA 5476 broad.mit.edu 37 20 44523507 44523507 + Silent SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr20:44523507C>T ENST00000372484.3 + 10 1251 c.969C>T c.(967-969)ttC>ttT p.F323F CTSA_ENST00000372459.2_Silent_p.F305F|CTSA_ENST00000354880.5_Silent_p.F306F|CTSA_ENST00000191018.5_Silent_p.F305F NM_000308.2|NM_001127695.1 NP_000299.2|NP_001121167.1 P10619 PPGB_HUMAN cathepsin A 305 intracellular protein transport|proteolysis endoplasmic reticulum|lysosome|nucleus enzyme activator activity|protein binding|serine-type carboxypeptidase activity breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|urinary_tract(1) 21 Myeloproliferative disorder(115;0.0122) GCAACATCTTCACTCGCCTGC 0.627000 49 175 0 0 1 0 0 PRRC2A 7916 broad.mit.edu 37 6 31602529 31602529 + Splice_Site SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr6:31602529G>T ENST00000376033.2 + 21 5169 c.e21-1 PRRC2A_ENST00000376007.4_Splice_Site NM_004638.3 NP_004629.3 P48634 PRC2A_HUMAN proline-rich coiled-coil 2A cytoplasm|nucleus protein binding breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 70 ACTCCTCTCAGATGAGTCAGT 0.542000 15 130 4.7546e-09 5.78967e-09 1 1 0 QSOX2 169714 broad.mit.edu 37 9 139118702 139118702 + Missense_Mutation SNP C C T rs144677667 TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr9:139118702C>T ENST00000358701.5 - 2 384 c.347G>A c.(346-348)cGc>cAc p.R116H NM_181701.3 NP_859052.3 Q6ZRP7 QSOX2_HUMAN quiescin Q6 sulfhydryl oxidase 2 116 Thioredoxin. cell redox homeostasis extracellular region|integral to membrane|nuclear membrane|plasma membrane thiol oxidase activity NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1) 22 Myeloproliferative disorder(178;0.0511) Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07) AGCTGCGACGCGAATGGCACT 0.607000 OREG0019616 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 143 0 0 1 0 0 AXDND1 126859 broad.mit.edu 37 1 179414139 179414139 + Missense_Mutation SNP A A G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:179414139A>G ENST00000367618.3 + 16 1985 c.1598A>G c.(1597-1599)gAt>gGt p.D533G AXDND1_ENST00000461179.2_3'UTR|AXDND1_ENST00000457238.2_Missense_Mutation_p.D533G NM_144696.4 NP_653297.3 Q5T1B0 AXDN1_HUMAN axonemal dynein light chain domain containing 1 533 NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 59 TTTACTGGGGATGTTCTACTG 0.358000 34 114 0 0 1 0 0 PRSS35 167681 broad.mit.edu 37 6 84233349 84233349 + Silent SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr6:84233349C>T ENST00000536636.1 + 3 534 c.189C>T c.(187-189)ggC>ggT p.G63G PRSS35_ENST00000369700.3_Silent_p.G63G NM_001170423.1 NP_001163894.1 Q8N3Z0 PRS35_HUMAN protease, serine, 35 63 proteolysis extracellular region serine-type endopeptidase activity breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 32 all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575) BRCA - Breast invasive adenocarcinoma(397;0.0768) CAGTGTGTGGCATCGAATGCC 0.468000 21 34 0 0 1 0 0 SRRM5 100170229 broad.mit.edu 37 19 44118417 44118417 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:44118417C>T ENST00000607544.1 + 3 2466 c.2144C>T c.(2143-2145)gCg>gTg p.A715V SRRM5_ENST00000417606.1_Missense_Mutation_p.A715V|ZNF428_ENST00000300811.3_Missense_Mutation_p.A14T|SRRM5_ENST00000526798.1_Missense_Mutation_p.A730V B3KS81 SRRM5_HUMAN serine/arginine repetitive matrix 5 715 p.A715V(1)|p.A14T(1) endometrium(11)|kidney(2)|skin(1)|stomach(1) 15 TCCAAGCTGGCGTAGCCCCCA 0.627000 7 63 0 0 1 0 0 EXTL1 2134 broad.mit.edu 37 1 26349469 26349469 + Missense_Mutation SNP A A G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:26349469A>G ENST00000374280.3 + 1 1199 c.332A>G c.(331-333)cAt>cGt p.H111R NM_004455.2 NP_004446.2 Q92935 EXTL1_HUMAN exostosin-like glycosyltransferase 1 111 skeletal system development integral to membrane|intrinsic to endoplasmic reticulum membrane glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1) 23 Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649) TCTGAGACTCATCGCAGGATC 0.577000 11 68 0 0 1 0 0 MYO18A 399687 broad.mit.edu 37 17 27493546 27493546 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr17:27493546C>T ENST00000527372.1 - 2 593 c.413G>A c.(412-414)cGc>cAc p.R138H MYO18A_ENST00000533112.1_Missense_Mutation_p.R138H|MYO18A_ENST00000531253.1_Missense_Mutation_p.R138H|MYO18A_ENST00000354329.4_Missense_Mutation_p.R138H NM_078471.3 NP_510880.2 Q92614 MY18A_HUMAN myosin XVIIIA 138 anti-apoptosis|DNA metabolic process ER-Golgi intermediate compartment|myosin complex ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2) 36 Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031) GAAGGAAAAGCGCTTGACAAT 0.622000 9 36 0 0 1 0 0 FCAR 2204 broad.mit.edu 37 19 55396756 55396756 + Silent SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:55396756G>A ENST00000355524.3 + 3 190 c.180G>A c.(178-180)ctG>ctA p.L60L FCAR_ENST00000482092.2_3'UTR|FCAR_ENST00000391724.3_Silent_p.L48L|FCAR_ENST00000469767.1_Silent_p.L60L|FCAR_ENST00000391725.3_Silent_p.L60L|FCAR_ENST00000391726.3_Silent_p.L48L|FCAR_ENST00000353758.4_Intron|FCAR_ENST00000345937.4_Silent_p.L60L|FCAR_ENST00000391723.3_Silent_p.L48L|FCAR_ENST00000359272.4_Silent_p.L48L NM_002000.2 NP_001991.1 P24071 FCAR_HUMAN Fc fragment of IgA, receptor for 60 Ig-like C2-type 1. immune response extracellular region|integral to plasma membrane IgA binding|receptor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2) 24 GBM - Glioblastoma multiforme(193;0.0443) TGACCCAGCTGATGATCATAA 0.468000 18 51 0 0 1 0 0 PI4KA 5297 broad.mit.edu 37 22 21080826 21080826 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr22:21080826C>T ENST00000255882.6 - 42 5031 c.4945G>A c.(4945-4947)Gcc>Acc p.A1649T PI4KA_ENST00000572273.1_Missense_Mutation_p.A1591T|PI4KA_ENST00000414196.3_Missense_Mutation_p.A401T NM_058004.3 NP_477352.3 P42356 PI4KA_HUMAN phosphatidylinositol 4-kinase, catalytic, alpha 1591 phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission Golgi-associated vesicle 1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 79 all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196) AAGAGGATGGCGTCCTGTGGA 0.597000 17 22 0 0 1 0 0 SCD5 79966 broad.mit.edu 37 4 83582156 83582156 + Missense_Mutation SNP T T C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr4:83582156T>C ENST00000273908.4 - 4 878 c.644A>G c.(643-645)cAa>cGa p.Q215R SCD5_ENST00000319540.4_Intron NM_024906.2 NP_079182.2 Q86SK9 SCD5_HUMAN stearoyl-CoA desaturase 5 0 fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane iron ion binding|stearoyl-CoA 9-desaturase activity endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1) 13 Colorectal(4;0.0323)|Hepatocellular(203;0.115) TATATGCCCTTGATGCCATTC 0.423000 46 265 0 0 1 0 0 NID1 4811 broad.mit.edu 37 1 236145007 236145007 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:236145007C>A ENST00000264187.6 - 16 3213 c.3131G>T c.(3130-3132)cGa>cTa p.R1044L NID1_ENST00000366595.3_Missense_Mutation_p.R911L NM_002508.2 NP_002499.2 P14543 NID1_HUMAN nidogen 1 1044 cell-matrix adhesion basement membrane calcium ion binding breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1) 66 Ovarian(103;0.0544)|Breast(184;0.23) all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229) OV - Ovarian serous cystadenocarcinoma(106;0.00162) Becaplermin(DB00102)|Urokinase(DB00013) CACTTCTATTCGATCCAGGTT 0.517000 19 62 5.35267e-07 6.22074e-07 1 1 0 ST8SIA6 338596 broad.mit.edu 37 10 17363173 17363173 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr10:17363173G>A ENST00000377602.4 - 8 975 c.901C>T c.(901-903)Ccc>Tcc p.P301S NM_001004470.1 NP_001004470.1 P61647 SIA8F_HUMAN ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6 301 post-translational protein modification|protein N-linked glycosylation via asparagine integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity endometrium(3)|kidney(3)|large_intestine(4)|liver(1)|lung(24)|ovary(1)|skin(1) 37 AGGTACTTGGGATGGAAAAAT 0.463000 34 235 0 0 1 0 0 ZNF208 7757 broad.mit.edu 37 19 22156965 22156965 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:22156965C>A ENST00000397126.4 - 4 1019 c.871G>T c.(871-873)Ggc>Tgc p.G291C ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron NM_007153.3 NP_009084.2 zinc finger protein 208 breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 113 all_lung(12;0.0961)|Lung NSC(12;0.103) AAGGCTTTGCCACATTCTTCA 0.388000 6 49 2.0095e-06 2.29496e-06 1 1 0 KIAA1161 57462 broad.mit.edu 37 9 34372318 34372318 + Silent SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr9:34372318C>T ENST00000297625.7 - 2 747 c.522G>A c.(520-522)ccG>ccA p.P174P NM_020702.3 NP_065753.2 Q6NSJ0 K1161_HUMAN KIAA1161 208 carbohydrate metabolic process integral to membrane hydrolase activity, hydrolyzing O-glycosyl compounds breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1) 12 LUSC - Lung squamous cell carcinoma(29;0.0107) GBM - Glioblastoma multiforme(74;0.126) TGGTGACGAACGGCTGGGGCT 0.652000 3 18 0 0 1 0 0 ASIC1 41 broad.mit.edu 37 12 50475361 50475361 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr12:50475361G>A ENST00000228468.4 + 12 2039 c.1654G>A c.(1654-1656)Ggg>Agg p.G552R ASIC1_ENST00000447966.2_Missense_Mutation_p.G506R|ASIC1_ENST00000552438.1_Missense_Mutation_p.G540R NM_020039.3 NP_064423.2 P78348 ACCN2_HUMAN acid-sensing (proton-gated) ion channel 1 506 calcium ion transport|response to pH|signal transduction integral to plasma membrane ligand-gated sodium channel activity|protein binding Amiloride(DB00594) CCACCCTGCCGGGATGACATA 0.637000 15 34 0 0 1 0 0 PAX6 5080 broad.mit.edu 37 11 31815228 31815228 + Nonsense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:31815228G>T ENST00000419022.1 - 11 1398 c.930C>A c.(928-930)taC>taA p.Y310* PAX6_ENST00000379115.4_Nonsense_Mutation_p.Y310*|PAX6_ENST00000379129.2_Nonsense_Mutation_p.Y310*|PAX6_ENST00000241001.8_Nonsense_Mutation_p.Y296*|PAX6_ENST00000379123.5_Nonsense_Mutation_p.Y296*|PAX6_ENST00000379107.2_Nonsense_Mutation_p.Y310*|PAX6_ENST00000379132.3_Nonsense_Mutation_p.Y296*|PAX6_ENST00000379111.2_Nonsense_Mutation_p.Y296* NM_001127612.1|NM_001258462.1|NM_001258463.1 NP_001121084.1|NP_001245391.1|NP_001245392.1 P26367 PAX6_HUMAN paired box 6 296 Pro/Ser/Thr-rich. blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception cytoplasm|nuclear chromatin R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2) 35 Lung SC(675;0.225) GAATTGGTTGGTAGACACTGG 0.443000 Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation 19 138 8.10497e-08 9.62385e-08 1 1 0 TRPC7 57113 broad.mit.edu 37 5 135693011 135693011 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr5:135693011C>A ENST00000513104.1 - 2 347 c.65G>T c.(64-66)cGt>cTt p.R22L TRPC7_ENST00000355180.3_Missense_Mutation_p.R22L|TRPC7_ENST00000426057.2_Missense_Mutation_p.R22L NM_020389.2 NP_065122.1 Q9HCX4 TRPC7_HUMAN transient receptor potential cation channel, subfamily C, member 7 22 axon guidance|platelet activation integral to membrane|plasma membrane calcium channel activity|protein binding NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3) 46 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) GGCCTGGCGACGGCCCTTCTC 0.597000 23 39 1.10513e-12 1.45813e-12 1 1 0 CNTNAP5 129684 broad.mit.edu 37 2 125627257 125627257 + Missense_Mutation SNP C C G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr2:125627257C>G ENST00000431078.1 + 21 3715 c.3351C>G c.(3349-3351)gaC>gaG p.D1117E NM_130773.2 NP_570129.1 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 1117 Laminin G-like 4. cell adhesion|signal transduction integral to membrane receptor binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3) 176 BRCA - Breast invasive adenocarcinoma(221;0.248) TGCAGATGGACCAGCAACTTC 0.428000 8 23 0 0 1 0 0 KLF13 51621 broad.mit.edu 37 15 31664264 31664264 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr15:31664264G>T ENST00000307145.3 + 2 987 c.629G>T c.(628-630)cGc>cTc p.R210L KLF13_ENST00000560473.1_Missense_Mutation_p.R22L NM_015995.2 NP_057079.2 Q9Y2Y9 KLF13_HUMAN Kruppel-like factor 13 210 transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(1) 2 all_lung(180;3.71e-11) all cancers(64;1.11e-18)|Epithelial(43;1.73e-14)|GBM - Glioblastoma multiforme(186;0.00016)|Colorectal(1;0.00158)|BRCA - Breast invasive adenocarcinoma(123;0.00255)|COAD - Colon adenocarcinoma(236;0.0446)|READ - Rectum adenocarcinoma(1;0.13)|Lung(196;0.171) AAGTTCGCGCGCTCCGACGAG 0.652000 9 7 3.09899e-07 3.62599e-07 1 1 0 FRMPD3 84443 broad.mit.edu 37 X 106806403 106806403 + Silent SNP G G C rs137932679 by1000genomes TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chrX:106806403G>C ENST00000276185.4 + 12 1188 c.1188G>C c.(1186-1188)acG>acC p.T396T Q5JV73 FRPD3_HUMAN FERM and PDZ domain containing 3 396 FERM. cytoskeleton breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1) 28 CTACCTTCACGGGCGTTTTGT 0.537000 32 45 0 0 1 0 0 SIGLEC8 27181 broad.mit.edu 37 19 51958853 51958853 + Silent SNP A A C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:51958853A>C ENST00000321424.3 - 4 936 c.870T>G c.(868-870)ccT>ccG p.P290P SIGLEC8_ENST00000340550.5_Silent_p.P197P|SIGLEC8_ENST00000430817.1_Silent_p.P181P NM_014442.2 NP_055257.2 Q9NYZ4 SIGL8_HUMAN sialic acid binding Ig-like lectin 8 290 Ig-like C2-type 2. cell adhesion integral to membrane sugar binding|transmembrane receptor activity NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2) 50 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979) TCAGCCTGGCAGGGGGATTGC 0.622000 8 72 0 0 1 0 0 B3GALNT2 148789 broad.mit.edu 37 1 235617570 235617570 + Silent SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:235617570C>T ENST00000366600.3 - 10 1437 c.1209G>A c.(1207-1209)ccG>ccA p.P403P NM_152490.2 NP_689703.1 Q8NCR0 B3GL2_HUMAN beta-1,3-N-acetylgalactosaminyltransferase 2 403 protein glycosylation Golgi membrane|integral to membrane galactosyltransferase activity NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 18 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.0539)|Prostate(94;0.0353) OV - Ovarian serous cystadenocarcinoma(106;0.000117) AAGCGGGGCTCGGGTACTCCA 0.507000 10 96 0 0 1 0 0 RECQL5 9400 broad.mit.edu 37 17 73627632 73627632 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr17:73627632C>T ENST00000317905.5 - 9 1505 c.1346G>A c.(1345-1347)cGc>cAc p.R449H RECQL5_ENST00000443199.2_5'UTR|RECQL5_ENST00000423245.2_Missense_Mutation_p.R422H NM_004259.6 NP_004250.4 O94762 RECQ5_HUMAN RecQ protein-like 5 449 DNA recombination|DNA repair cytoplasm|nuclear membrane|nucleolus|nucleoplasm ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 36 all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09) all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112) GCTGCTGCTGCGCTCCAAGGC 0.672000 Other identified genes with known or suspected DNA repair function 11 93 0 0 1 0 0 PSTPIP1 9051 broad.mit.edu 37 15 77310589 77310589 + Splice_Site SNP G G C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr15:77310589G>C ENST00000558012.1 + 2 626 c.137_splice c.e2+1 p.R46_splice PSTPIP1_ENST00000267939.5_Splice_Site_p.R45_splice|PSTPIP1_ENST00000559295.1_Splice_Site_p.R46_splice|PSTPIP1_ENST00000379595.3_Splice_Site_p.R46_splice NM_003978.3 NP_003969.2 O43586 PPIP1_HUMAN proline-serine-threonine phosphatase interacting protein 1 46 FCH. cell adhesion|signal transduction cleavage furrow|lamellipodium|perinuclear region of cytoplasm catalytic activity breast(1)|endometrium(3)|lung(2)|ovary(2)|upper_aerodigestive_tract(1) 9 CTGAGGCAGAGGTGAGCTGCT 0.637000 5 8 0 0 1 0 0 NLGN4X 57502 broad.mit.edu 37 X 5821596 5821596 + Missense_Mutation SNP C C G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chrX:5821596C>G ENST00000381095.3 - 5 1750 c.1123G>C c.(1123-1125)Gaa>Caa p.E375Q NLGN4X_ENST00000275857.6_Missense_Mutation_p.E375Q|NLGN4X_ENST00000538097.1_Missense_Mutation_p.E375Q|NLGN4X_ENST00000381093.2_Missense_Mutation_p.E395Q|NLGN4X_ENST00000381092.1_Missense_Mutation_p.E375Q NM_181332.1 NP_851849.1 Q8N0W4 NLGNX_HUMAN neuroligin 4, X-linked 375 brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior cell surface|dendrite|integral to plasma membrane|synapse chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 81 TTCAGGCCTTCCCCTTGGTTG 0.582000 11 35 0 0 1 0 0 APOB 338 broad.mit.edu 37 2 21233373 21233373 + Missense_Mutation SNP T T A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr2:21233373T>A ENST00000233242.1 - 26 6494 c.6367A>T c.(6367-6369)Aat>Tat p.N2123Y NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 2123 Heparin-binding. cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) AGATAATCATTAGCTTGCTGT 0.368000 14 19 0 0 1 0 0 CUX2 23316 broad.mit.edu 37 12 111779639 111779639 + Silent SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr12:111779639G>T ENST00000261726.6 + 21 3595 c.3441G>T c.(3439-3441)ccG>ccT p.P1147P NM_015267.3 NP_056082.2 O14529 CUX2_HUMAN cut-like homeobox 2 1147 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 55 GTGAGTCCCCGGCCACCCGCT 0.667000 31 66 2.4375e-19 3.56409e-19 1 1 0 GNAS 2778 broad.mit.edu 37 20 57429587 57429587 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr20:57429587G>T ENST00000371100.4 + 1 1819 c.1267G>T c.(1267-1269)Ggg>Tgg p.G423W GNAS_ENST00000603534.1_Intron|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000306120.3_Silent_p.P359P|GNAS_ENST00000371075.3_Intron|GNAS_ENST00000371098.2_Intron|GNAS_ENST00000313949.7_Intron|GNAS_ENST00000371099.2_Missense_Mutation_p.G423W|GNAS_ENST00000371102.4_Missense_Mutation_p.G423W NM_001077490.1|NM_080425.2 NP_001070958.1|NP_536350.2 P63092 GNAS2_HUMAN GNAS complex locus 0 activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1) 441 all_lung(29;0.0104) BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109) TCCTGACTCCGGGGCATTCGC 0.736000 Mis pituitary adenoma """McCune-Albright syndrome; pseudohypoparathyroidism, type IA""" TSP Lung(22;0.16) 8 7 1.76689e-08 2.12046e-08 1 1 0 YY2 404281 broad.mit.edu 37 X 21875264 21875264 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chrX:21875264C>T ENST00000429584.2 + 1 1160 c.662C>T c.(661-663)cCt>cTt p.P221L MBTPS2_ENST00000379484.5_Intron|MBTPS2_ENST00000365779.2_Intron|MBTPS2_ENST00000465888.1_3'UTR NM_206923.3 NP_996806.2 O15391 TYY2_HUMAN YY2 transcription factor 221 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|plasma membrane DNA binding|zinc ion binding breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2) 19 AAACTTCCTCCTGGGGGGTTA 0.488000 41 233 0 0 1 0 0 POM121L12 285877 broad.mit.edu 37 7 53103485 53103485 + Nonsense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr7:53103485C>T ENST00000408890.4 + 1 137 c.121C>T c.(121-123)Cag>Tag p.Q41* NM_182595.3 NP_872401.3 Q8N7R1 P1L12_HUMAN POM121 transmembrane nucleoporin-like 12 41 endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 61 CAGCACGCCCCAGACCACGCC 0.682000 12 75 0 0 1 0 0 GPR137 56834 broad.mit.edu 37 11 64054308 64054308 + Silent SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:64054308C>T ENST00000539851.1 + 2 779 c.312C>T c.(310-312)tgC>tgT p.C104C GPR137_ENST00000377702.4_Silent_p.C104C|GPR137_ENST00000438980.2_Silent_p.C104C|GPR137_ENST00000313074.3_Silent_p.C104C|GPR137_ENST00000411458.1_Silent_p.C162C NM_001177358.1 NP_001170829.1 Q96N19 G137A_HUMAN G protein-coupled receptor 137 104 integral to membrane central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1) 10 GCCCCGTCTGCCTGCAGTTCT 0.612000 6 213 0 0 1 0 0 SMEK2 57223 broad.mit.edu 37 2 55826111 55826111 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr2:55826111C>T ENST00000272313.5 - 4 689 c.362G>A c.(361-363)cGa>cAa p.R121Q SMEK2_ENST00000407823.3_Missense_Mutation_p.R121Q|SMEK2_ENST00000345102.5_Missense_Mutation_p.R121Q NM_020463.2 NP_065196.1 Q5MIZ7 P4R3B_HUMAN SMEK homolog 2, suppressor of mek1 (Dictyostelium) 121 microtubule organizing center|nucleus protein binding kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1) 16 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) TTCTTCAAATCGTTCTTCTTC 0.393000 13 64 0 0 1 0 0 ACER1 125981 broad.mit.edu 37 19 6307296 6307296 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:6307296C>T ENST00000301452.4 - 5 571 c.494G>A c.(493-495)aGc>aAc p.S165N NM_133492.2 NP_597999.1 Q8TDN7 ACER1_HUMAN alkaline ceramidase 1 165 endoplasmic reticulum membrane|integral to membrane ceramidase activity NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1) 15 CTCCTTATTGCTGGTCCTAGA 0.577000 5 39 0 0 1 0 0 CFH 3075 broad.mit.edu 37 1 196684897 196684897 + Missense_Mutation SNP A A G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:196684897A>G ENST00000367429.4 + 11 1934 c.1694A>G c.(1693-1695)tAt>tGt p.Y565C NM_000186.3 NP_000177.2 P08603 CFAH_HUMAN complement factor H 565 Sushi 9. complement activation, alternative pathway extracellular space NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 101 CCCATATGTTATGGTAAGTAC 0.318000 25 109 0 0 1 0 0 PREX2 80243 broad.mit.edu 37 8 69046347 69046347 + Missense_Mutation SNP A A G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr8:69046347A>G ENST00000288368.4 + 32 4097 c.3820A>G c.(3820-3822)Act>Gct p.T1274A NM_024870.2|NM_025170.4 NP_079146.2|NP_079446.3 Q70Z35 PREX2_HUMAN phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 1274 G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2) 178 TCTTGTGGCCACTGTCTGTGC 0.478000 3 23 0 0 1 0 0 PTCHD2 57540 broad.mit.edu 37 1 11589658 11589658 + Silent SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:11589658C>T ENST00000294484.6 + 14 2982 c.2844C>T c.(2842-2844)cgC>cgT p.R948R PTCHD2_ENST00000389575.3_Silent_p.R948R NM_020780.1 NP_065831.1 Q9P2K9 PTHD2_HUMAN patched domain containing 2 948 R -> H (in dbSNP:rs12096312). cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway endoplasmic reticulum|integral to membrane|nuclear membrane hedgehog receptor activity NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 76 Ovarian(185;0.249) Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549) TCCACGGGCGCGTATGCATGG 0.632000 28 66 0 0 1 0 0 ILDR2 387597 broad.mit.edu 37 1 166927338 166927338 + Splice_Site SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:166927338G>T ENST00000271417.3 - 2 102 c.46_splice c.e2-1 p.A16_splice ILDR2_ENST00000525740.1_Splice_Site_p.A16_splice|ILDR2_ENST00000528703.1_Splice_Site_p.A16_splice|ILDR2_ENST00000529071.1_Splice_Site_p.A16_splice|ILDR2_ENST00000529387.1_Splice_Site_p.A16_splice|ILDR2_ENST00000469934.2_Splice_Site_p.A16_splice|ILDR2_ENST00000526687.1_Splice_Site_p.A16_splice NM_199351.2 NP_955383.1 Q71H61 ILDR2_HUMAN immunoglobulin-like domain containing receptor 2 16 integral to membrane NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 22 TTCGACCATGGCTGCAAAACA 0.507000 20 94 1.96292e-10 2.47211e-10 1 1 0 PLEKHG3 26030 broad.mit.edu 37 14 65208208 65208208 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr14:65208208C>T ENST00000247226.7 + 14 2113 c.1805C>T c.(1804-1806)aCa>aTa p.T602I PLEKHG3_ENST00000484731.2_Missense_Mutation_p.T163I|PLEKHG3_ENST00000394691.1_Missense_Mutation_p.T658I|PLEKHG3_ENST00000471182.2_Missense_Mutation_p.T191I NM_015549.1 NP_056364.1 A1L390 PKHG3_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 3 658 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2) 29 all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485) GGCAGTGCCACAGACTCCCTC 0.657000 21 57 0 0 1 0 0 WFDC9 259240 broad.mit.edu 37 20 44237410 44237410 + Missense_Mutation SNP T T C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr20:44237410T>C ENST00000326000.1 - 4 348 c.131A>G c.(130-132)cAg>cGg p.Q44R NM_147198.3 NP_671731.1 Q8NEX5 WFDC9_HUMAN WAP four-disulfide core domain 9 44 extracellular region breast(1)|large_intestine(1)|liver(1)|lung(1)|prostate(1)|stomach(1) 6 Myeloproliferative disorder(115;0.0122) ATATGGAGGCTGTACCCAGCA 0.408000 31 32 0 0 1 0 0 TNNI2 7136 broad.mit.edu 37 11 1862434 1862434 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:1862434G>T ENST00000381906.1 + 7 519 c.450G>T c.(448-450)gaG>gaT p.E150D TNNI2_ENST00000381905.3_Missense_Mutation_p.E150D|TNNI2_ENST00000381911.1_Missense_Mutation_p.E150D|TNNI2_ENST00000252898.7_Missense_Mutation_p.E150D NM_001145829.1 NP_001139301.1 P48788 TNNI2_HUMAN troponin I type 2 (skeletal, fast) 150 muscle filament sliding|positive regulation of transcription, DNA-dependent|skeletal muscle contraction cytosol|nucleus|troponin complex actin binding|troponin T binding lung(8)|prostate(1)|urinary_tract(1) 10 all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) AGGACACAGAGAAGGTGCGTG 0.662000 10 35 1.58986e-06 1.82314e-06 1 1 0 GABRA3 2556 broad.mit.edu 37 X 151532986 151532986 + Silent SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chrX:151532986C>A ENST00000370314.4 - 2 295 c.57G>T c.(55-57)ctG>ctT p.L19L GABRA3_ENST00000370311.1_Silent_p.L19L|GABRA3_ENST00000535043.1_Silent_p.L19L NM_000808.3 NP_000799.1 P34903 GBRA3_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 3 19 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6) 37 Acute lymphoblastic leukemia(192;6.56e-05) Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) GAATATTAATCAGGAAAAGAA 0.458000 47 103 8.48111e-28 1.31375e-27 1 1 0 DACT1 51339 broad.mit.edu 37 14 59113413 59113413 + Missense_Mutation SNP T T A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr14:59113413T>A ENST00000395153.3 + 4 2108 c.1961T>A c.(1960-1962)cTg>cAg p.L654Q DACT1_ENST00000335867.4_Missense_Mutation_p.L691Q|DACT1_ENST00000395151.3_Missense_Mutation_p.L410Q|DACT1_ENST00000556859.1_Missense_Mutation_p.L410Q|DACT1_ENST00000541264.2_Missense_Mutation_p.L410Q NM_001079520.1|NM_016651.5 NP_001072988.1|NP_057735.2 Q9NYF0 DACT1_HUMAN dishevelled-binding antagonist of beta-catenin 1 691 multicellular organismal development|Wnt receptor signaling pathway cytoplasm|nucleus endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 53 GAAGAGGCCCTGAGGAGGGCC 0.677000 11 36 0 0 1 0 0 MAPKBP1 23005 broad.mit.edu 37 15 42113112 42113112 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr15:42113112G>T ENST00000457542.2 + 23 2850 c.2564G>T c.(2563-2565)gGt>gTt p.G855V MAPKBP1_ENST00000456763.2_Missense_Mutation_p.G861V|MAPKBP1_ENST00000514566.1_Missense_Mutation_p.G855V|MAPKBP1_ENST00000221214.6_Missense_Mutation_p.G738V|MAPKBP1_ENST00000260357.7_Missense_Mutation_p.G694V NM_014994.2 NP_055809.2 O60336 MABP1_HUMAN mitogen-activated protein kinase binding protein 1 861 breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262) OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225) GTTCAGCCAGGTGTGGAACTG 0.637000 11 18 9.70103e-10 1.20484e-09 1 1 0 C1orf127 148345 broad.mit.edu 37 1 11009696 11009696 + Silent SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:11009696G>A ENST00000377004.4 - 11 1274 c.1275C>T c.(1273-1275)tcC>tcT p.S425S C1orf127_ENST00000377008.4_Silent_p.S258S NM_001170754.1 NP_001164225.1 B7ZLG7 B7ZLG7_HUMAN chromosome 1 open reading frame 127 276 NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5) 32 Ovarian(185;0.249) Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731) STAD - Stomach adenocarcinoma(5;0.0224) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509) CCAGTGCGTCGGAAGGCCGGT 0.632000 3 13 0 0 1 0 0 TTLL5 23093 broad.mit.edu 37 14 76238130 76238130 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr14:76238130G>A ENST00000298832.9 + 21 2274 c.2069G>A c.(2068-2070)cGc>cAc p.R690H TTLL5_ENST00000557636.1_Missense_Mutation_p.R704H|TTLL5_ENST00000555422.1_3'UTR|TTLL5_ENST00000554510.1_Missense_Mutation_p.R199H|TTLL5_ENST00000556893.1_Missense_Mutation_p.R241H NM_015072.4 NP_055887.3 Q6EMB2 TTLL5_HUMAN tubulin tyrosine ligase-like family, member 5 690 protein modification process|transcription, DNA-dependent centrosome|cilium|microtubule basal body|nucleus tubulin-tyrosine ligase activity NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2) 50 BRCA - Breast invasive adenocarcinoma(234;0.029) GTTCAAATTCGCCTGATGAAA 0.428000 20 178 0 0 1 0 0 OR2T33 391195 broad.mit.edu 37 1 248437033 248437033 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:248437033C>A ENST00000318021.2 - 1 105 c.84G>T c.(82-84)atG>atT p.M28I NM_001004695.1 NP_001004695.1 Q8NG76 O2T33_HUMAN olfactory receptor, family 2, subfamily T, member 33 28 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4) 67 all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) TACTCAGAACCATCATGAAGA 0.483000 36 130 1.15505e-17 1.65969e-17 1 1 0 SLC52A1 55065 broad.mit.edu 37 17 4937818 4937818 + Silent SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr17:4937818G>A ENST00000512825.2 - 2 1495 c.84C>T c.(82-84)aaC>aaT p.N28N SLC52A1_ENST00000254853.5_Silent_p.N28N|SLC52A1_ENST00000424747.1_Silent_p.N28N Q9NWF4 RFT_HUMAN solute carrier family 52 (riboflavin transporter), member 1 28 integral to plasma membrane receptor activity|riboflavin transporter activity CCCAGATCCCGTTCACAGCAG 0.627000 19 63 0 0 1 0 0 EML5 161436 broad.mit.edu 37 14 89161767 89161767 + Silent SNP T T A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr14:89161767T>A ENST00000554922.1 - 16 2624 c.2376A>T c.(2374-2376)atA>atT p.I792I EML5_ENST00000380664.5_Silent_p.I792I|EML5_ENST00000352093.5_Silent_p.I792I NM_183387.2 NP_899243.1 Q05BV3 EMAL5_HUMAN echinoderm microtubule associated protein like 5 792 cytoplasm|microtubule breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 GGCTATCATCTATGCCAACTG 0.363000 6 26 0 0 1 0 0 HOXA2 3199 broad.mit.edu 37 7 27142065 27142065 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr7:27142065C>T ENST00000222718.5 - 1 365 c.55G>A c.(55-57)Gct>Act p.A19T NM_006735.3 NP_006726.1 O43364 HXA2_HUMAN homeobox A2 19 nucleus sequence-specific DNA binding transcription factor activity p.A19S(1) breast(3)|cervix(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1) 22 AGGCACTCAGCGAGCGACGGC 0.478000 16 138 0 0 1 0 0 CRIPAK 285464 broad.mit.edu 37 4 1388397 1388397 + Missense_Mutation SNP C C A rs144588942 TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr4:1388397C>A ENST00000324803.4 + 1 3058 c.98C>A c.(97-99)cCg>cAg p.P33Q NM_175918.3 NP_787114.2 Q8N1N5 CRPAK_HUMAN cysteine-rich PAK1 inhibitor 33 ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus endoplasmic reticulum|nucleus|plasma membrane protein binding NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1) 35 OV - Ovarian serous cystadenocarcinoma(23;0.0106) GTGGAGTGCCCGCCTGCTCAC 0.642000 96 235 6.00078e-37 9.5799e-37 1 1 0 ACE2 59272 broad.mit.edu 37 X 15584482 15584482 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chrX:15584482C>A ENST00000427411.1 - 17 2224 c.2008G>T c.(2008-2010)Gtg>Ttg p.V670L ACE2_ENST00000252519.3_Missense_Mutation_p.V670L NM_021804.2 NP_068576.1 Q9BYF1 ACE2_HUMAN angiotensin I converting enzyme 2 670 angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1) 32 Hepatocellular(33;0.183) Moexipril(DB00691) GCCACTCGCACATCCTCCTCC 0.408000 32 184 1.62565e-12 2.1361e-12 1 1 0 MTUS2 23281 broad.mit.edu 37 13 29599124 29599124 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr13:29599124G>T ENST00000431530.3 + 1 377 c.319G>T c.(319-321)Gat>Tat p.D107Y NM_001033602.2 NP_001028774.2 Q5JR59 MTUS2_HUMAN microtubule associated tumor suppressor candidate 2 97 cytoplasm|microtubule microtubule binding|protein homodimerization activity p.D107N(1) NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1) 20 CAGCCTGAAAGATTTTAGACT 0.488000 6 41 0.217242 0.218313 1 1 0 GOLGA2P5 55592 broad.mit.edu 37 12 100551472 100551472 + RNA SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr12:100551472C>A ENST00000397112.4 - 0 1726 NR_036632.1 large_intestine(1)|lung(3) 4 CATAGCCGTGCCTGCTCCTCC 0.602000 14 40 6.31663e-08 7.5123e-08 1 1 0 C11orf30 56946 broad.mit.edu 37 11 76169296 76169296 + Silent SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:76169296G>T ENST00000529032.1 + 4 315 c.315G>T c.(313-315)cgG>cgT p.R105R C11orf30_ENST00000525038.1_Silent_p.R119R|C11orf30_ENST00000524767.1_Silent_p.R119R|C11orf30_ENST00000533248.1_Silent_p.R119R|C11orf30_ENST00000524490.1_Silent_p.R105R|C11orf30_ENST00000334736.3_Silent_p.R105R|C11orf30_ENST00000525919.1_Silent_p.R105R|C11orf30_ENST00000343878.3_Silent_p.R105R Q7Z589 EMSY_HUMAN chromosome 11 open reading frame 30 105 Interaction with BRCA2.|Interaction with ZMYND11. chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2) 60 TGATGCCCCGGCTCGTTCCCC 0.478000 26 86 1.32003e-05 1.46867e-05 1 1 0 GPR139 124274 broad.mit.edu 37 16 20043968 20043968 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr16:20043968G>T ENST00000570682.1 - 2 451 c.151C>A c.(151-153)Ctc>Atc p.L51I NM_001002911.2 NP_001002911.1 Q6DWJ6 GP139_HUMAN G protein-coupled receptor 139 51 integral to membrane|plasma membrane autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 30 AGCTGGGAGAGGATGATCACT 0.478000 30 25 5.45727e-16 7.67921e-16 1 1 0 ATP8B3 148229 broad.mit.edu 37 19 1784932 1784932 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:1784932G>T ENST00000539485.1 - 28 3809 c.3576C>A c.(3574-3576)agC>agA p.S1192R ATP8B3_ENST00000310127.6_Missense_Mutation_p.S1182R|ATP8B3_ENST00000525591.1_Missense_Mutation_p.S1145R O60423 AT8B3_HUMAN ATPase, aminophospholipid transporter, class I, type 8B, member 3 1182 ATP biosynthetic process ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 23 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) AGGACATCACGCTGAGGTCGG 0.632000 11 16 7.03913e-09 8.50688e-09 1 1 0 EP400 57634 broad.mit.edu 37 12 132466837 132466837 + Silent SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr12:132466837G>A ENST00000333577.4 + 6 1960 c.1851G>A c.(1849-1851)ccG>ccA p.P617P EP400_ENST00000389562.2_Silent_p.P580P|EP400_ENST00000389561.2_Silent_p.P581P|EP400_ENST00000330386.6_Silent_p.P581P|EP400_ENST00000332482.4_Silent_p.P544P Q96L91 EP400_HUMAN E1A binding protein p400 617 histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) CACAGCAGCCGCAAGTGGTAG 0.657000 40 91 0 0 1 0 0 CUTC 51076 broad.mit.edu 37 10 101514356 101514356 + Silent SNP T T C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr10:101514356T>C ENST00000370476.5 + 8 801 c.672T>C c.(670-672)tcT>tcC p.S224S NM_015960.2 NP_057044.2 Q9NTM9 CUTC_HUMAN cutC copper transporter 224 copper ion homeostasis|copper ion transport|protein tetramerization cytoplasm|nucleus copper ion binding breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 14 Colorectal(252;0.234) Epithelial(162;3e-10)|all cancers(201;2.37e-08) TCCACTGTTCTGCTCGGTCTA 0.373000 77 191 0 0 1 0 0 FAM149A 25854 broad.mit.edu 37 4 187073101 187073101 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr4:187073101G>T ENST00000356371.5 + 4 861 c.861G>T c.(859-861)tgG>tgT p.W287C FAM149A_ENST00000503432.1_5'UTR|FAM149A_ENST00000227065.4_5'UTR|FAM149A_ENST00000502970.1_5'UTR|FAM149A_ENST00000389354.5_5'UTR|FAM149A_ENST00000514829.1_3'UTR|FAM149A_ENST00000514153.1_5'UTR A5PLN7 F149A_HUMAN family with sequence similarity 149, member A 287 breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(2) 25 all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166) GGTTACTCTGGGAGGTGGAGG 0.498000 8 54 0.00829132 0.008594 1 1 0 SPEG 10290 broad.mit.edu 37 2 220312928 220312928 + Missense_Mutation SNP A A T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr2:220312928A>T ENST00000312358.7 + 4 1180 c.1048A>T c.(1048-1050)Acc>Tcc p.T350S SPEG_ENST00000396698.1_Missense_Mutation_p.T246S|SPEG_ENST00000396695.2_5'UTR|SPEG_ENST00000485813.1_3'UTR NM_005876.4 NP_005867.3 Q15772 SPEG_HUMAN SPEG complex locus 350 muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4) 100 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) GGACACCACCACCGAAGAGAA 0.741000 12 23 0 0 1 0 0 LHX8 431707 broad.mit.edu 37 1 75609599 75609599 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:75609599G>A ENST00000294638.5 + 7 1344 c.680G>A c.(679-681)aGa>aAa p.R227K LHX8_ENST00000356261.3_Missense_Mutation_p.R217K NM_001001933.1 NP_001001933.1 Q68G74 LHX8_HUMAN LIM homeobox 8 227 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1) 30 CCAGCAAAAAGAGCTCGGACC 0.403000 14 33 0 0 1 0 0 OR1A2 26189 broad.mit.edu 37 17 3100944 3100944 + Silent SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr17:3100944C>T ENST00000381951.1 + 1 132 c.132C>T c.(130-132)ctC>ctT p.L44L NM_012352.1 NP_036484.1 Q9Y585 OR1A2_HUMAN olfactory receptor, family 1, subfamily A, member 2 44 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(4)|stomach(2) 18 GAAATCTGCTCATCATCTTGG 0.423000 52 74 0 0 1 0 0 AMER2 219287 broad.mit.edu 37 13 25743822 25743822 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr13:25743822C>A ENST00000357816.2 - 3 2054 c.1579G>T c.(1579-1581)Gtc>Ttc p.V527F AMER2_ENST00000381853.3_Missense_Mutation_p.V527F|AMER2_ENST00000515384.1_Missense_Mutation_p.V646F APC membrane recruitment protein 2 ACTCTGCGGACCAGCACTTTG 0.582000 28 60 5.45727e-16 7.67921e-16 1 1 0 RPH3AL 9501 broad.mit.edu 37 17 171085 171085 + Missense_Mutation SNP C C T rs111397837 byFrequency TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr17:171085C>T ENST00000323434.8 - 4 796 c.199G>A c.(199-201)Gtc>Atc p.V67I RPH3AL_ENST00000331302.7_Missense_Mutation_p.V67I|RPH3AL_ENST00000536489.2_Missense_Mutation_p.V67I NM_001190412.1 NP_001177341.1 Q9UNE2 RPH3L_HUMAN rabphilin 3A-like (without C2 domains) 67 RabBD. exocytosis|intracellular protein transport transport vesicle membrane cytoskeletal protein binding|Rab GTPase binding|zinc ion binding NS(2)|breast(1)|kidney(1)|large_intestine(1)|skin(1) 6 UCEC - Uterine corpus endometrioid carcinoma (25;0.023)|all cancers(1;4.96e-06)|Epithelial(1;2.86e-05)|BRCA - Breast invasive adenocarcinoma(1;0.00453)|OV - Ovarian serous cystadenocarcinoma(1;0.0716)|LUAD - Lung adenocarcinoma(1115;0.102)|COAD - Colon adenocarcinoma(4;0.107) TGCTCCAGGACGTCGAGCCGC 0.682000 16 62 0 0 1 0 0 REP15 387849 broad.mit.edu 37 12 27849995 27849995 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr12:27849995G>T ENST00000310791.2 + 1 568 c.500G>T c.(499-501)gGt>gTt p.G167V RP11-1060J15.4_ENST00000542660.1_RNA|RP11-1060J15.4_ENST00000536922.1_RNA|RP11-1060J15.4_ENST00000536317.1_RNA NM_001029874.1 NP_001025045.1 Q6BDI9 REP15_HUMAN RAB15 effector protein 167 early endosome membrane breast(1)|cervix(1)|large_intestine(2)|lung(4)|ovary(1) 9 Lung SC(9;0.0873) ATCATCTTTGGTATGCCAGGA 0.473000 24 37 1.10513e-12 1.45813e-12 1 1 0 DGKH 160851 broad.mit.edu 37 13 42769036 42769036 + Missense_Mutation SNP G G C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr13:42769036G>C ENST00000379274.2 + 17 2072 c.1643G>C c.(1642-1644)cGg>cCg p.R548P DGKH_ENST00000337343.4_Missense_Mutation_p.R684P|DGKH_ENST00000536612.1_Missense_Mutation_p.R548P|DGKH_ENST00000261491.4_Missense_Mutation_p.R684P|DGKH_ENST00000540693.1_Missense_Mutation_p.R684P|DGKH_ENST00000498255.2_3'UTR|DGKH_ENST00000538674.1_Missense_Mutation_p.R439P Q86XP1 DGKH_HUMAN diacylglycerol kinase, eta 684 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization endosome|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109) ACTGCACCTCGGTCTCCAGAT 0.413000 18 36 0 0 1 0 0 NLRP9 338321 broad.mit.edu 37 19 56223291 56223291 + Silent SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:56223291G>T ENST00000332836.2 - 8 2745 c.2718C>A c.(2716-2718)gcC>gcA p.A906A NM_176820.2 NP_789790.2 Q7RTR0 NALP9_HUMAN NLR family, pyrin domain containing 9 906 cytoplasm ATP binding NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3) 74 Colorectal(82;0.000133)|Ovarian(87;0.133) GBM - Glioblastoma multiforme(193;0.123) TGAGTGCTGCGGCGATGTCGT 0.572000 15 46 2.62699e-14 3.58633e-14 1 1 0 CDH12 1010 broad.mit.edu 37 5 22078722 22078722 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr5:22078722G>T ENST00000382254.1 - 5 1150 c.64C>A c.(64-66)Cca>Aca p.P22T CDH12_ENST00000522262.1_Missense_Mutation_p.P22T|CDH12_ENST00000504376.2_Missense_Mutation_p.P22T NM_004061.3 NP_004052.2 P55289 CAD12_HUMAN cadherin 12, type 2 (N-cadherin 2) 22 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.P22A(1) NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 120 GGTTGTAGTGGTGTTAGGAGA 0.458000 HNSCC(59;0.17) 25 338 3.28513e-13 4.36008e-13 1 1 0 ZSCAN4 201516 broad.mit.edu 37 19 58187714 58187714 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:58187714G>T ENST00000318203.5 + 3 898 c.201G>T c.(199-201)agG>agT p.R67S NM_152677.2 NP_689890.1 Q8NAM6 ZSCA4_HUMAN zinc finger and SCAN domain containing 4 67 SCAN box. telomere maintenance via telomere lengthening|viral reproduction nuclear chromosome, telomeric region DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1) 30 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) GACTTTATAGGATCTTTCACT 0.398000 33 73 8.16721e-17 1.16311e-16 1 1 0 SCNN1B 6338 broad.mit.edu 37 16 23366787 23366787 + Silent SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr16:23366787C>T ENST00000343070.2 + 4 929 c.753C>T c.(751-753)ttC>ttT p.F251F SCNN1B_ENST00000568923.1_Silent_p.F224F|SCNN1B_ENST00000307331.5_Silent_p.F296F|SCNN1B_ENST00000568085.1_Silent_p.F251F NM_000336.2 NP_000327.2 P51168 SCNNB_HUMAN sodium channel, non-voltage-gated 1, beta subunit 251 excretion|sensory perception of taste apical plasma membrane ligand-gated sodium channel activity|WW domain binding breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 32 GBM - Glioblastoma multiforme(48;0.0465) Amiloride(DB00594)|Triamterene(DB00384) CCTGCCTATTCGGAGCTGAGC 0.622000 26 74 0 0 1 0 0 TNFRSF12A 51330 broad.mit.edu 37 16 3070412 3070412 + Nonsense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr16:3070412C>A ENST00000575124.1 + 1 37 c.14C>A c.(13-15)tCg>tAg p.S5* TNFRSF12A_ENST00000341627.5_Nonsense_Mutation_p.S5*|TNFRSF12A_ENST00000326577.4_Nonsense_Mutation_p.S5*|TNFRSF12A_ENST00000573001.1_Intron Q9NP84 TNR12_HUMAN tumor necrosis factor receptor superfamily, member 12A 5 angiogenesis|apoptosis integral to membrane receptor activity lung(1)|skin(1) 2 GCTCGGGGCTCGCTGCGCCGG 0.791000 5 27 3.59834e-05 3.95641e-05 1 1 0 LHPP 64077 broad.mit.edu 37 10 126185553 126185553 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr10:126185553G>T ENST00000368842.5 + 4 519 c.491G>T c.(490-492)gGc>gTc p.G164V LHPP_ENST00000368839.1_Missense_Mutation_p.G164V|LHPP_ENST00000392757.4_Missense_Mutation_p.G164V NM_022126.3 NP_071409.3 Q9H008 LHPP_HUMAN phospholysine phosphohistidine inorganic pyrophosphate phosphatase 164 protein dephosphorylation cytosol|nucleus inorganic diphosphatase activity|magnesium ion binding|phosphohistidine phosphatase activity|protein homodimerization activity large_intestine(2)|lung(2) 4 all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233) COAD - Colon adenocarcinoma(40;0.163)|Colorectal(40;0.187) GAGACCTCTGGCCTGATGCTG 0.577000 42 158 5.20006e-24 7.91835e-24 1 1 0 GALNT14 79623 broad.mit.edu 37 2 31178519 31178519 + Missense_Mutation SNP C C G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr2:31178519C>G ENST00000349752.5 - 6 1258 c.619G>C c.(619-621)Gac>Cac p.D207H GALNT14_ENST00000356174.3_Missense_Mutation_p.D174H|GALNT14_ENST00000420311.2_Missense_Mutation_p.D172H|GALNT14_ENST00000406653.1_Missense_Mutation_p.D187H|GALNT14_ENST00000324589.5_Missense_Mutation_p.D212H|GALNT14_ENST00000486564.1_5'UTR NM_024572.3 NP_078848.2 Q96FL9 GLT14_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14) 207 Catalytic subdomain A. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3) 43 Acute lymphoblastic leukemia(172;0.155) TGGAGCCAGTCCCTGTTCACC 0.632000 25 56 0 0 1 0 0 HOXD13 3239 broad.mit.edu 37 2 176957905 176957905 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr2:176957905C>T ENST00000392539.3 + 1 287 c.287C>T c.(286-288)gCg>gTg p.A96V NM_000523.3 NP_000514.2 P35453 HXD13_HUMAN homeobox D13 96 skeletal system development|transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3) 6 OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18) Colorectal(32;0.0526)|READ - Rectum adenocarcinoma(9;0.0678) GCCGTTGTAGCGGCGCGCCCG 0.746000 T NUP98 AML* 7 41 0 0 1 0 0 ZAN 7455 broad.mit.edu 37 7 100371106 100371106 + RNA SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr7:100371106C>A ENST00000542585.1 + 0 5772 ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) CCAGCGGGCTCCTACCACCCG 0.637000 14 18 1.15088e-07 1.36007e-07 1 1 0 RGS7 6000 broad.mit.edu 37 1 240969627 240969627 + Splice_Site SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:240969627C>A ENST00000366565.1 - 15 1464 c.e15-1 RGS7_ENST00000407727.1_Splice_Site|RGS7_ENST00000366563.1_Splice_Site|RGS7_ENST00000366562.4_Splice_Site|RGS7_ENST00000366564.1_Splice_Site|RGS7_ENST00000446183.2_Splice_Site|RGS7_ENST00000348120.2_Splice_Site|RGS7_ENST00000331110.7_Splice_Site|RGS7_ENST00000401882.1_Splice_Site NM_002924.4 NP_002915.3 P49802 RGS7_HUMAN regulator of G-protein signaling 7 G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|protein binding|signal transducer activity breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 all_cancers(173;0.0131) OV - Ovarian serous cystadenocarcinoma(106;0.027) CAGCCAGAATCTATGCAGAAT 0.478000 35 101 1.04594e-18 1.51553e-18 1 1 0 SHC1 6464 broad.mit.edu 37 1 154942566 154942566 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:154942566C>T ENST00000448116.2 - 1 657 c.437G>A c.(436-438)cGg>cAg p.R146Q SHC1_ENST00000368453.4_Missense_Mutation_p.R36Q|SHC1_ENST00000606391.1_Intron|SHC1_ENST00000368445.5_Missense_Mutation_p.R146Q|SHC1_ENST00000368450.1_Missense_Mutation_p.R36Q|SHC1_ENST00000368449.4_Intron NM_001130040.1 NP_001123512.1 P29353 SHC1_HUMAN SHC (Src homology 2 domain containing) transforming protein 1 146 activation of MAPK activity|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|positive regulation of DNA replication|Ras protein signal transduction|regulation of epidermal growth factor receptor activity|regulation of growth cytosol|mitochondrial matrix|Shc-EGFR complex epidermal growth factor receptor binding|insulin receptor binding|insulin-like growth factor receptor binding|phospholipid binding|protein binding|transmembrane receptor protein tyrosine kinase adaptor activity breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1) 20 all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00034) CAGCCAGCCCCGCGTGGGCTT 0.652000 14 202 0 0 1 0 0 PDGFRA 5156 broad.mit.edu 37 4 55152032 55152032 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr4:55152032C>T ENST00000257290.5 + 18 2795 c.2464C>T c.(2464-2466)Cgc>Tgc p.R822C FIP1L1_ENST00000507166.1_Missense_Mutation_p.R582C NM_006206.4 NP_006197.1 P16234 PGFRA_HUMAN platelet-derived growth factor receptor, alpha polypeptide 822 Protein kinase. cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity p.R822S(1) NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1) 967 all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08) GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256) Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268) TCTGGCTGCTCGCAACGTCCT 0.498000 """Mis, O, T""" FIP1L1 """GIST, idiopathic hypereosinophilic syndrome, paediatric GBM""" Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis TSP Lung(21;0.16) 40 82 0 0 1 0 0 COASY 80347 broad.mit.edu 37 17 40717805 40717805 + Silent SNP G G C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr17:40717805G>C ENST00000393818.2 + 8 2070 c.1614G>C c.(1612-1614)ccG>ccC p.P538P COASY_ENST00000449624.1_Silent_p.P243P|COASY_ENST00000590958.1_Silent_p.P567P|COASY_ENST00000420359.1_Silent_p.P538P|COASY_ENST00000421097.2_Silent_p.P538P NM_025233.6 NP_079509.5 Q13057 COASY_HUMAN CoA synthase 538 DPCK. coenzyme A biosynthetic process|pantothenate metabolic process mitochondrial outer membrane ATP binding|dephospho-CoA kinase activity|pantetheine-phosphate adenylyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(1) 21 all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344) BRCA - Breast invasive adenocarcinoma(366;0.13) TGTGGGAGCCGCATATCACCC 0.642000 27 55 0 0 1 0 0 ZNF135 7694 broad.mit.edu 37 19 58573028 58573028 + Silent SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:58573028G>T ENST00000401053.4 + 2 153 c.150G>T c.(148-150)ctG>ctT p.L50L ZNF135_ENST00000511556.1_Silent_p.L38L|ZNF135_ENST00000506786.1_5'UTR|ZNF135_ENST00000359978.6_Silent_p.L50L|ZNF135_ENST00000313434.5_Silent_p.L38L|ZNF135_ENST00000439855.2_Silent_p.L38L NM_001164529.1|NM_007134.1 NP_001158001.1|NP_009065.1 B4DHH9 B4DHH9_HUMAN zinc finger protein 135 38 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1) 41 Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161) AGAGGACCCTGTACCGTGATG 0.552000 45 90 4.49093e-37 7.17973e-37 1 1 0 SLCO1B1 10599 broad.mit.edu 37 12 21377716 21377716 + Missense_Mutation SNP C C G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr12:21377716C>G ENST00000256958.2 + 14 1904 c.1808C>G c.(1807-1809)tCc>tGc p.S603C NM_006446.4 NP_006437.3 Q9Y6L6 SO1B1_HUMAN solute carrier organic anion transporter family, member 1B1 603 bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|integral to plasma membrane|membrane fraction bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1) 70 Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175) ATAAAGTGGTCCACCAACAAC 0.358000 35 54 0 0 1 0 0 AHNAK2 113146 broad.mit.edu 37 14 105411923 105411923 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr14:105411923G>A ENST00000333244.5 - 7 9984 c.9865C>T c.(9865-9867)Cgg>Tgg p.R3289W AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 3289 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) CCCTCCAGCCGTGCACCATCC 0.607000 5 273 0 0 1 0 0 FAM65C 140876 broad.mit.edu 37 20 49225232 49225232 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr20:49225232C>T ENST00000327979.2 - 10 1127 c.716G>A c.(715-717)cGg>cAg p.R239Q FAM65C_ENST00000045083.2_Missense_Mutation_p.R239Q|FAM65C_ENST00000535356.1_Missense_Mutation_p.R243Q Q96MK2 FA65C_HUMAN family with sequence similarity 65, member C 239 endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 TGACTCGATCCGACCCTTGAG 0.647000 19 180 0 0 1 0 0 NAALADL1 10004 broad.mit.edu 37 11 64825656 64825656 + Silent SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:64825656C>T ENST00000358658.3 - 2 279 c.252G>A c.(250-252)ctG>ctA p.L84L NAALADL1_ENST00000340252.4_Silent_p.L84L|NAALADL1_ENST00000355369.2_Silent_p.L84L|NAALADL1_ENST00000355721.3_Silent_p.L84L|NAALADL1_ENST00000356632.3_Silent_p.L84L|NAALADL1_ENST00000339885.2_Silent_p.L84L NM_005468.2 NP_005459.2 Q9UQQ1 NALDL_HUMAN N-acetylated alpha-linked acidic dipeptidase-like 1 84 proteolysis apical plasma membrane|integral to membrane carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 29 TCCAGCGCTGCAGCAGCAGCT 0.677000 6 41 0 0 1 0 0 OBSL1 23363 broad.mit.edu 37 2 220432115 220432115 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr2:220432115C>T ENST00000404537.1 - 4 1773 c.1717G>A c.(1717-1719)Gga>Aga p.G573R OBSL1_ENST00000373873.4_Missense_Mutation_p.G573R|OBSL1_ENST00000289656.3_Missense_Mutation_p.G160R|OBSL1_ENST00000603926.1_Missense_Mutation_p.G573R|OBSL1_ENST00000373876.1_Missense_Mutation_p.G573R|OBSL1_ENST00000265318.4_Missense_Mutation_p.G573R NM_015311.2 NP_056126.1 O75147 OBSL1_HUMAN obscurin-like 1 573 Fibronectin type-III. cardiac myofibril assembly intercalated disc|M band|perinuclear region of cytoplasm|Z disc cytoskeletal adaptor activity Renal(207;0.0376) Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834) TCCACGGCTCCGGCTTTCTCG 0.637000 3 15 0 0 1 0 0 SLC14A1 6563 broad.mit.edu 37 18 43329756 43329756 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr18:43329756C>A ENST00000321925.4 + 10 1242 c.1010C>A c.(1009-1011)gCt>gAt p.A337D SLC14A1_ENST00000589700.1_Missense_Mutation_p.L288I|SLC14A1_ENST00000591541.1_Missense_Mutation_p.A41D|SLC14A1_ENST00000436407.3_Missense_Mutation_p.A393D|SLC14A1_ENST00000402943.2_Missense_Mutation_p.A232D|SLC14A1_ENST00000502059.2_Missense_Mutation_p.A229D|SLC14A1_ENST00000586142.1_Missense_Mutation_p.A337D|SLC14A1_ENST00000535474.1_Missense_Mutation_p.A205D|SLC14A1_ENST00000415427.3_Missense_Mutation_p.A393D NM_001128588.3|NM_001146036.2|NM_015865.6 NP_001122060.3|NP_001139508.2|NP_056949.4 Q13336 UT1_HUMAN solute carrier family 14 (urea transporter), member 1 337 integral to plasma membrane urea transmembrane transporter activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 21 GGATTGCCAGCTTGTACCTGG 0.488000 47 47 4.21674e-32 6.66066e-32 1 1 0 DVL3 1857 broad.mit.edu 37 3 183887823 183887823 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr3:183887823G>A ENST00000313143.3 + 14 1776 c.1528G>A c.(1528-1530)Gat>Aat p.D510N EIF2B5_ENST00000444495.1_Intron|DVL3_ENST00000431765.1_Missense_Mutation_p.D493N NM_004423.3 NP_004414.3 Q92997 DVL3_HUMAN dishevelled segment polarity protein 3 510 canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent cytoplasm beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1) 35 all_cancers(143;1.12e-10)|Ovarian(172;0.0339) Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22) CCACGATCACGATGGCTCCAG 0.657000 29 104 0 0 1 0 0 IFNL1 282618 broad.mit.edu 37 19 39788687 39788687 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:39788687G>T ENST00000333625.2 + 3 430 c.333G>T c.(331-333)gaG>gaT p.E111D NM_172140.1 NP_742152.1 interferon, lambda 1 CAGCCCTGGAGGACGTCCTAG 0.672000 22 61 4.87955e-14 6.6212e-14 1 1 0 HDAC5 10014 broad.mit.edu 37 17 42158177 42158177 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr17:42158177C>T ENST00000225983.6 - 21 3007 c.2684G>A c.(2683-2685)cGc>cAc p.R895H HDAC5_ENST00000586802.1_Missense_Mutation_p.R894H|HDAC5_ENST00000393622.2_Missense_Mutation_p.R894H|HDAC5_ENST00000336057.5_Missense_Mutation_p.R809H Q9UQL6 HDAC5_HUMAN histone deacetylase 5 894 Histone deacetylase. B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent cytoplasm|histone deacetylase complex histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1) 21 Breast(137;0.00637)|Prostate(33;0.0313) BRCA - Breast invasive adenocarcinoma(366;0.118) GTTGTCATAGCGATGCAGAGA 0.572000 8 70 0 0 1 0 0 ZNF229 7772 broad.mit.edu 37 19 44933673 44933673 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:44933673G>A ENST00000291187.4 - 6 1587 c.1265C>T c.(1264-1266)aCa>aTa p.T422I ZNF229_ENST00000588931.1_Missense_Mutation_p.T428I|ZNF229_ENST00000591289.1_Intron|CTC-512J12.4_ENST00000588655.1_RNA NM_001278510.1 NP_001265439.1 Q9UJW7 ZN229_HUMAN zinc finger protein 229 428 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 45 Prostate(69;0.0352) CTTCTCCCCTGTGTGCAGCCT 0.537000 15 44 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132471096 132471096 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr12:132471096C>T ENST00000333577.4 + 7 2184 c.2075C>T c.(2074-2076)cCg>cTg p.P692L EP400_ENST00000389562.2_Missense_Mutation_p.P655L|EP400_ENST00000389561.2_Missense_Mutation_p.P656L|EP400_ENST00000330386.6_Missense_Mutation_p.P656L|EP400_ENST00000332482.4_Missense_Mutation_p.P619L Q96L91 EP400_HUMAN E1A binding protein p400 692 histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.P655L(1) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) GACCCTGCCCCGCCCTGCCCA 0.642000 18 91 0 0 1 0 0 KANK2 25959 broad.mit.edu 37 19 11305169 11305169 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:11305169C>T ENST00000432929.2 - 3 379 c.19G>A c.(19-21)Gtg>Atg p.V7M KANK2_ENST00000355150.5_Missense_Mutation_p.V7M|KANK2_ENST00000586659.1_Missense_Mutation_p.V7M|KANK2_ENST00000589359.1_Missense_Mutation_p.V7M|KANK2_ENST00000589894.1_Missense_Mutation_p.V7M NM_001136191.2 NP_001129663.1 Q63ZY3 KANK2_HUMAN KN motif and ankyrin repeat domains 2 7 endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 GGAGCAGGCACGTGCAGGACC 0.637000 4 66 0 0 1 0 0 TUBB8 347688 broad.mit.edu 37 10 93914 93914 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr10:93914C>A ENST00000447903.2 - 4 517 c.202G>T c.(202-204)Ggt>Tgt p.G68C TUBB8_ENST00000332708.5_3'UTR|TUBB8_ENST00000309812.4_Missense_Mutation_p.G140C|TUBB8_ENST00000413237.3_5'UTR Q3ZCM7 TBB8_HUMAN tubulin, beta 8 class VIII 140 microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1) 32 all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235) Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132) GTCCCCCCACCCAGGGAGTGG 0.592000 12 64 1.49906e-05 1.66537e-05 1 1 0 OR8H3 390152 broad.mit.edu 37 11 55890587 55890587 + Nonsense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:55890587G>T ENST00000313472.3 + 1 739 c.739G>T c.(739-741)Gga>Tga p.G247* NM_001005201.1 NP_001005201.1 Q8N146 OR8H3_HUMAN olfactory receptor, family 8, subfamily H, member 3 247 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1) 42 Esophageal squamous(21;0.00693) TCATCTCTTGGGAGTCACCAT 0.383000 20 50 1.01871e-10 1.29314e-10 1 1 0 RRP12 23223 broad.mit.edu 37 10 99150225 99150225 + Silent SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr10:99150225C>T ENST00000370992.4 - 6 819 c.708G>A c.(706-708)caG>caA p.Q236Q RRP12_ENST00000414986.1_Silent_p.Q175Q|RRP12_ENST00000315563.6_Intron|RRP12_ENST00000536831.1_Silent_p.Q42Q NM_015179.3 NP_055994.2 Q5JTH9 RRP12_HUMAN ribosomal RNA processing 12 homolog (S. cerevisiae) 236 integral to membrane|nuclear membrane|nucleolus protein binding NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 37 Colorectal(252;0.162) Epithelial(162;2.72e-09)|all cancers(201;1.76e-07) CATGGTACACCTGAAGGGTCA 0.607000 11 29 0 0 1 0 0 HPN 3249 broad.mit.edu 37 19 35551311 35551311 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:35551311G>A ENST00000262626.2 + 8 1340 c.515G>A c.(514-516)gGc>gAc p.G172D HPN_ENST00000392226.1_Missense_Mutation_p.G172D|HPN-AS1_ENST00000392227.2_RNA|HPN_ENST00000597419.1_Intron NM_182983.2 NP_892028.1 P05981 HEPS_HUMAN hepsin 172 Peptidase S1. cell growth|proteolysis cytoplasm|integral to plasma membrane scavenger receptor activity|serine-type endopeptidase activity central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|upper_aerodigestive_tract(2) 19 all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) Coagulation factor VIIa(DB00036) ACCAGCTTGGGCCGGTGGCCG 0.682000 45 94 0 0 1 0 0 CXorf57 55086 broad.mit.edu 37 X 105905389 105905389 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chrX:105905389G>T ENST00000372548.4 + 12 2232 c.2123G>T c.(2122-2124)cGg>cTg p.R708L CXorf57_ENST00000497124.1_3'UTR|CXorf57_ENST00000372544.2_Missense_Mutation_p.R611L NM_018015.5 NP_060485.4 Q6NSI4 CX057_HUMAN chromosome X open reading frame 57 708 NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 31 AGTATTCCACGGAAATTTATG 0.408000 8 80 0.000274275 0.000293932 1 1 0 KIAA1211 57482 broad.mit.edu 37 4 57182506 57182506 + Silent SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr4:57182506G>A ENST00000504228.1 + 6 2943 c.2838G>A c.(2836-2838)ccG>ccA p.P946P KIAA1211_ENST00000541073.1_Silent_p.P939P|KIAA1211_ENST00000264229.6_Silent_p.P946P Q6ZU35 K1211_HUMAN KIAA1211 946 Pro-rich. endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1) 65 Glioma(25;0.08)|all_neural(26;0.101) CCCCGGCTCCGGAGCACGACA 0.647000 7 35 0 0 1 0 0 FLNB 2317 broad.mit.edu 37 3 57994537 57994537 + Silent SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr3:57994537G>T ENST00000357272.4 + 1 411 c.246G>T c.(244-246)gtG>gtT p.V82V FLNB_ENST00000348383.5_Silent_p.V82V|FLNB_ENST00000358537.3_Silent_p.V82V|FLNB_ENST00000295956.4_Silent_p.V82V|FLNB_ENST00000429972.2_Silent_p.V82V|FLNB_ENST00000490882.1_Silent_p.V82V O75369 FLNB_HUMAN filamin B, beta 82 Actin-binding.|CH 1. actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction cell cortex|integral to membrane|nucleus|sarcomere actin binding NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5) 120 BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898) ATGTGTCCGTGGCGCTCGAGT 0.657000 61 88 1.63578e-51 2.65874e-51 1 1 0 LILRB2 10288 broad.mit.edu 37 19 54782417 54782417 + Splice_Site SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:54782417C>A ENST00000391748.1 - 7 1083 c.e7-1 LILRB2_ENST00000391749.4_Splice_Site|LILRB2_ENST00000391746.1_Splice_Site|LILRB2_ENST00000434421.1_Splice_Site|LILRB2_ENST00000314446.5_Splice_Site NM_001278403.1 NP_001265332.1 Q8N423 LIRB2_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response integral to plasma membrane|membrane fraction receptor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 44 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) CGGATCTGTCCTGGAGAGAAG 0.597000 12 41 3.07112e-06 3.47729e-06 1 1 0 FANCA 2175 broad.mit.edu 37 16 89828358 89828358 + Splice_Site SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr16:89828358G>A ENST00000389301.3 - 29 2881 c.2852_splice c.e29+1 p.R951_splice FANCA_ENST00000568369.1_Splice_Site_p.R951_splice NM_000135.2 NP_000126.2 O15360 FANCA_HUMAN Fanconi anemia, complementation group A 951 R -> Q.|R -> W. DNA repair|protein complex assembly cytoplasm|nucleoplasm protein binding breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3) 47 Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.028) AACACTTACCGTTCAGTATCT 0.468000 """D, Mis, N, F, S""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 6 44 0 0 1 0 0 PEG3 5178 broad.mit.edu 37 19 57325360 57325360 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:57325360C>A ENST00000326441.9 - 10 4813 c.4450G>T c.(4450-4452)Ggt>Tgt p.G1484C PEG3_ENST00000598410.1_Missense_Mutation_p.G1360C|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.G1484C|PEG3_ENST00000593695.1_Missense_Mutation_p.G1358C|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000599935.1_Intron NM_006210.2 NP_006201.1 Q9GZU2 PEG3_HUMAN paternally expressed 3 1484 Glu-rich. apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6) 170 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) ATTCCCACACCGTCAGGCTCG 0.493000 54 130 4.1673e-28 6.46422e-28 1 1 0 GLT8D2 83468 broad.mit.edu 37 12 104396965 104396965 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr12:104396965C>T ENST00000360814.4 - 5 637 c.232G>A c.(232-234)Gcc>Acc p.A78T GLT8D2_ENST00000548660.1_Missense_Mutation_p.A78T|GLT8D2_ENST00000546436.1_Missense_Mutation_p.A78T NM_031302.3 NP_112592.1 Q9H1C3 GL8D2_HUMAN glycosyltransferase 8 domain containing 2 78 integral to membrane transferase activity, transferring glycosyl groups kidney(3)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1) 16 AAGATGTTGGCGTCAGTGTTG 0.473000 20 128 0 0 1 0 0 PLEKHG2 64857 broad.mit.edu 37 19 39915327 39915327 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:39915327G>T ENST00000425673.1 + 17 3792 c.3467G>T c.(3466-3468)aGc>aTc p.S1156I PLEKHG2_ENST00000409794.3_Missense_Mutation_p.S1185I|PLEKHG2_ENST00000458508.2_Missense_Mutation_p.S1126I|PLEKHG2_ENST00000409797.2_Intron|PLEKHG2_ENST00000378550.1_Intron Q9H7P9 PKHG2_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 2 1185 Pro-rich. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569) Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657) CCGGAGCCAAGCCTTACAGAT 0.562000 22 187 1.55795e-14 2.13078e-14 1 1 0 ATP5L2 267020 broad.mit.edu 37 22 43036166 43036166 + Missense_Mutation SNP C C G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr22:43036166C>G ENST00000505920.1 - 1 441 c.115G>C c.(115-117)Gtt>Ctt p.V39L CYB5R3_ENST00000402438.1_Intron|CYB5R3_ENST00000361740.4_Intron|CYB5R3_ENST00000352397.5_Intron|CYB5R3_ENST00000407623.3_Intron|CYB5R3_ENST00000396303.3_Intron NM_001165877.1 NP_001159349.1 Q7Z4Y8 AT5L2_HUMAN ATP synthase, H+ transporting, mitochondrial Fo complex, subunit G2 39 ATP synthesis coupled proton transport mitochondrial proton-transporting ATP synthase complex, coupling factor F(o) hydrogen ion transmembrane transporter activity endometrium(1)|kidney(1) 2 GTGGGAGGAACCAGCTCAACC 0.502000 8 20 0 0 1 0 0 SLC9A2 6549 broad.mit.edu 37 2 103311542 103311542 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr2:103311542G>T ENST00000233969.2 + 7 1698 c.1556G>T c.(1555-1557)gGa>gTa p.G519V SLC9A2_ENST00000469286.1_3'UTR NM_003048.3 NP_003039.2 Q9UBY0 SL9A2_HUMAN solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2 519 integral to membrane|plasma membrane sodium:hydrogen antiporter activity breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 GATGTTTGTGGACATTGGGGT 0.383000 30 103 2.47316e-13 3.30787e-13 1 1 0 MYBPC2 4606 broad.mit.edu 37 19 50939886 50939886 + Nonsense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:50939886G>T ENST00000357701.5 + 5 409 c.358G>T c.(358-360)Gag>Tag p.E120* NM_004533.3 NP_004524.3 Q14324 MYPC2_HUMAN myosin binding protein C, fast type 120 Ig-like C2-type 1. cell adhesion|muscle filament sliding cytosol|myosin filament actin binding|structural constituent of muscle breast(1) 1 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144) GTACACCGTGGAGCTGCACAT 0.592000 16 71 6.94344e-10 8.6523e-10 1 1 0 F2 2147 broad.mit.edu 37 11 46748344 46748344 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:46748344C>T ENST00000311907.5 + 9 1143 c.1087C>T c.(1087-1089)Cgc>Tgc p.R363C F2_ENST00000530231.1_Missense_Mutation_p.R363C NM_000506.3 NP_000497.1 P00734 THRB_HUMAN coagulation factor II (thrombin) 363 Cleavage; by factor Xa. activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein cytosol|endoplasmic reticulum lumen|extracellular space|Golgi lumen|plasma membrane|soluble fraction calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1) 27 all_lung(304;0.000414)|Lung NSC(402;0.0011) BRCA - Breast invasive adenocarcinoma(625;0.146) Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898) CATCGACGGGCGCATTGTGGA 0.592000 15 118 0 0 1 0 0 DDX1 1653 broad.mit.edu 37 2 15768800 15768800 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr2:15768800G>A ENST00000381341.2 + 23 2187 c.1798G>A c.(1798-1800)Gta>Ata p.V600I DDX1_ENST00000233084.3_Missense_Mutation_p.V600I Q92499 DDX1_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 1 600 Helicase C-terminal.|Necessary for interaction with HNRNPK.|Necessary for interaction with replicase polyprotein 1ab nsp14 of IBV. DNA duplex unwinding|double-strand break repair|multicellular organismal development|regulation of transcription, DNA-dependent|regulation of translational initiation|spliceosome assembly|transcription, DNA-dependent cleavage body|stress granule|tRNA-splicing ligase complex ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|DNA/RNA helicase activity|exonuclease activity|poly(A) RNA binding|protein binding|RNA helicase activity|transcription cofactor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(13)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 29 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197) all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694) GBM - Glioblastoma multiforme(3;0.00969) Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133) GCAAAACTACGTACATCGAAT 0.313000 7 25 0 0 1 0 0 AKAP9 10142 broad.mit.edu 37 7 91603032 91603032 + Missense_Mutation SNP A A T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr7:91603032A>T ENST00000359028.2 + 3 317 c.92A>T c.(91-93)cAg>cTg p.Q31L AKAP9_ENST00000394564.1_Missense_Mutation_p.Q19L|AKAP9_ENST00000358100.2_Missense_Mutation_p.Q31L|AKAP9_ENST00000356239.3_Missense_Mutation_p.Q19L Q99996 AKAP9_HUMAN A kinase (PRKA) anchor protein 9 31 G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2) 155 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) TAGCTTGCCCAGTTTCGACAA 0.378000 T BRAF papillary thyroid 4 26 0 0 1 0 0 RYR3 6263 broad.mit.edu 37 15 34080453 34080453 + Silent SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr15:34080453C>T ENST00000389232.4 + 67 9694 c.9624C>T c.(9622-9624)ccC>ccT p.P3208P RYR3_ENST00000415757.3_Silent_p.P3208P NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 3208 cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) AAGCCAGGCCCGACCTGCTGA 0.498000 55 67 0 0 1 0 0 NTRK1 4914 broad.mit.edu 37 1 156841429 156841429 + Silent SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:156841429G>A ENST00000368196.3 + 7 852 c.732G>A c.(730-732)ctG>ctA p.L244L NTRK1_ENST00000392302.2_Silent_p.L214L|NTRK1_ENST00000524377.1_Silent_p.L244L|NTRK1_ENST00000358660.3_Silent_p.L244L NM_001012331.1 NP_001012331.1 P04629 NTRK1_HUMAN neurotrophic tyrosine kinase, receptor, type 1 244 Ig-like C2-type 1. activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction endosome|integral to plasma membrane ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 74 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) Imatinib(DB00619) CTGGGGGTCTGCCATCCCTGG 0.587000 T """TPM3, TPR, TFG""" papillary thyroid TSP Lung(10;0.080) 20 105 0 0 1 0 0 KCNH3 23416 broad.mit.edu 37 12 49943404 49943404 + Missense_Mutation SNP A A G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr12:49943404A>G ENST00000257981.6 + 9 1909 c.1649A>G c.(1648-1650)aAt>aGt p.N550S NM_012284.1 NP_036416.1 Q9ULD8 KCNH3_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 3 550 regulation of transcription, DNA-dependent integral to membrane two-component sensor activity|voltage-gated potassium channel activity NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 36 GCGGTGAACAATGGCATCGAC 0.632000 7 29 0 0 1 0 0 TRAM2 9697 broad.mit.edu 37 6 52368025 52368025 + Silent SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr6:52368025G>T ENST00000182527.3 - 11 1082 c.1083C>A c.(1081-1083)tcC>tcA p.S361S EFHC1_ENST00000433625.2_Intron NM_012288.3 NP_036420.1 Q15035 TRAM2_HUMAN translocation associated membrane protein 2 361 collagen biosynthetic process|protein transport|transmembrane transport integral to membrane protein binding endometrium(3)|large_intestine(1)|lung(7)|prostate(1)|skin(1) 13 Lung NSC(77;0.109) TAGTCCGTGGGGAGGTTCCGT 0.552000 28 107 1.06647e-15 1.49133e-15 1 1 0 RXFP3 51289 broad.mit.edu 37 5 33938099 33938099 + Missense_Mutation SNP C C G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr5:33938099C>G ENST00000330120.3 + 1 1609 c.1254C>G c.(1252-1254)ttC>ttG p.F418L NM_016568.3 NP_057652.1 Q9NSD7 RL3R1_HUMAN relaxin/insulin-like family peptide receptor 3 418 integral to plasma membrane N-formyl peptide receptor activity endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3) 42 TGCGCCCCTTCACCGCCACTA 0.706000 15 52 0 0 1 0 0 ALMS1 7840 broad.mit.edu 37 2 73675107 73675107 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr2:73675107G>T ENST00000264448.6 + 8 1561 c.1450G>T c.(1450-1452)Ggc>Tgc p.G484C ALMS1_ENST00000377715.1_Missense_Mutation_p.G484C|ALMS1_ENST00000409009.1_Missense_Mutation_p.G442C NM_015120.4 NP_055935.4 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 484 G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 147 TTCTAAAGGAGGCATAGCTAA 0.358000 26 57 1.04121e-07 1.23503e-07 1 1 0 PCDH20 64881 broad.mit.edu 37 13 61986209 61986209 + Missense_Mutation SNP C C T rs147088518 TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr13:61986209C>T ENST00000409186.1 - 5 4128 c.2023G>A c.(2023-2025)Gcc>Acc p.A675T PCDH20_ENST00000409204.4_Missense_Mutation_p.A675T Q8N6Y1 PCD20_HUMAN protocadherin 20 648 Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 58 Breast(118;0.195)|Prostate(109;0.229) GBM - Glioblastoma multiforme(99;0.000118) ACAGAGAGGGCGACCCATCCA 0.458000 22 67 0 0 1 0 0 DUPD1 338599 broad.mit.edu 37 10 76797741 76797741 + Silent SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr10:76797741G>A ENST00000338487.5 - 3 515 c.516C>T c.(514-516)gaC>gaT p.D172D NM_001003892.1 NP_001003892.1 Q68J44 DUPD1_HUMAN dual specificity phosphatase and pro isomerase domain containing 1 172 Tyrosine-protein phosphatase. cytoplasm protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity breast(1)|endometrium(2)|lung(5)|ovary(2)|urinary_tract(1) 11 all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348) GCTGGATGGCGTCCACCAGGG 0.627000 10 41 0 0 1 0 0 H1FOO 132243 broad.mit.edu 37 3 129267890 129267890 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr3:129267890C>A ENST00000324382.2 + 3 430 c.425C>A c.(424-426)cCc>cAc p.P142H H1FOO_ENST00000503977.1_Missense_Mutation_p.P3H NM_153833.1 NP_722575.1 Q8IZA3 H1FOO_HUMAN H1 histone family, member O, oocyte-specific 142 meiosis|nucleosome assembly cytoplasm|nucleosome DNA binding endometrium(1)|lung(4)|skin(1) 6 AAGATGGCCCCCGCGACGGCT 0.617000 4 17 0.150653 0.15194 1 1 0 PYGB 5834 broad.mit.edu 37 20 25255300 25255300 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr20:25255300G>A ENST00000216962.4 + 5 711 c.601G>A c.(601-603)Gtg>Atg p.V201M NM_002862.3 NP_002853.2 P11216 PYGB_HUMAN phosphorylase, glycogen; brain 201 glucose metabolic process|glycogen catabolic process cytoplasm glycogen phosphorylase activity|pyridoxal phosphate binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 31 Pyridoxal Phosphate(DB00114) TATGCTTCCCGTGCACTTCTA 0.632000 7 220 0 0 1 0 0 TUBA3C 7278 broad.mit.edu 37 13 19753492 19753492 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr13:19753492G>T ENST00000400113.3 - 2 319 c.215C>A c.(214-216)cCc>cAc p.P72H NM_006001.2 NP_005992.1 Q13748 TBA3C_HUMAN tubulin, alpha 3c 72 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1) 72 all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108) GACCACAGTGGGCTCCAGGTC 0.577000 8 63 5.4927e-09 6.65953e-09 1 1 0 RABGGTA 5875 broad.mit.edu 37 14 24735664 24735664 + Silent SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr14:24735664C>T ENST00000399409.3 - 15 2010 c.1527G>A c.(1525-1527)cgG>cgA p.R509R RABGGTA_ENST00000216840.6_Silent_p.R509R|RABGGTA_ENST00000560777.1_Silent_p.R118R NM_004581.5 NP_004572.3 Q92696 PGTA_HUMAN Rab geranylgeranyltransferase, alpha subunit 509 visual perception Rab geranylgeranyltransferase activity|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6) 12 GBM - Glioblastoma multiforme(265;0.0184) GCTCCTGCAGCCGGGGTAGGT 0.612000 31 77 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228474665 228474665 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:228474665G>T ENST00000570156.2 + 40 10830 c.10756G>T c.(10756-10758)Gcc>Tcc p.A3586S OBSCN_ENST00000366707.4_Missense_Mutation_p.A276S|OBSCN_ENST00000366709.4_Missense_Mutation_p.A276S|OBSCN_ENST00000284548.11_Missense_Mutation_p.A3157S|OBSCN_ENST00000359599.6_Missense_Mutation_p.A2004S|OBSCN_ENST00000422127.1_Missense_Mutation_p.A3157S NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 2619 Ig-like 36. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) CATCACTGGGGCCACCCTGCA 0.667000 4 26 0.150653 0.15194 1 1 0 MED23 9439 broad.mit.edu 37 6 131921227 131921227 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr6:131921227G>T ENST00000403834.3 - 18 2362 c.2189C>A c.(2188-2190)cCt>cAt p.P730H MED23_ENST00000545957.1_Missense_Mutation_p.P365H|MED23_ENST00000368060.3_Missense_Mutation_p.P724H|MED23_ENST00000368058.1_Missense_Mutation_p.P730H|MED23_ENST00000354577.4_Missense_Mutation_p.P730H|MED23_ENST00000540546.1_Missense_Mutation_p.P730H|MED23_ENST00000368053.4_Missense_Mutation_p.P730H|MED23_ENST00000368068.3_Missense_Mutation_p.P724H Q9ULK4 MED23_HUMAN mediator complex subunit 23 724 regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter transcription factor complex protein binding|transcription coactivator activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 44 Breast(56;0.0753) GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608) CCAATTATGAGGAGTGAAACT 0.378000 8 32 3.09899e-07 3.62599e-07 1 1 0 YWHAZ 7534 broad.mit.edu 37 8 101937183 101937183 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr8:101937183G>A ENST00000395957.2 - 4 720 c.379C>T c.(379-381)Cgt>Tgt p.R127C YWHAZ_ENST00000395951.3_Missense_Mutation_p.R127C|YWHAZ_ENST00000395953.2_Missense_Mutation_p.R127C|YWHAZ_ENST00000395956.3_Missense_Mutation_p.R127C|YWHAZ_ENST00000395958.2_Missense_Mutation_p.R127C|YWHAZ_ENST00000395948.2_Missense_Mutation_p.R50C|YWHAZ_ENST00000353245.3_Missense_Mutation_p.R127C|YWHAZ_ENST00000521309.1_Missense_Mutation_p.R7C|YWHAZ_ENST00000522819.1_Missense_Mutation_p.R7C|YWHAZ_ENST00000522542.1_Missense_Mutation_p.R52C|YWHAZ_ENST00000457309.1_Missense_Mutation_p.R127C|YWHAZ_ENST00000419477.2_Missense_Mutation_p.R127C P63104 1433Z_HUMAN tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta polypeptide 127 Interaction with phosphoserine on interacting protein (By similarity). anti-apoptosis|mRNA metabolic process|platelet activation|signal transduction cytosol|melanosome transcription factor binding large_intestine(1)|lung(2) 3 all_cancers(14;7.43e-06)|all_epithelial(15;2.77e-08)|Lung NSC(17;6.08e-05)|all_lung(17;0.000197) Epithelial(11;2.79e-11)|all cancers(13;5.45e-09)|OV - Ovarian serous cystadenocarcinoma(57;4.75e-05) Ginkgo biloba(DB01381) GCCAAGTAACGGTAGTAATCT 0.383000 24 52 0 0 1 0 0 FGFR1 2260 broad.mit.edu 37 8 38277189 38277189 + Silent SNP T T A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr8:38277189T>A ENST00000447712.2 - 9 2087 c.1146A>T c.(1144-1146)acA>acT p.T382T FGFR1_ENST00000397108.4_Silent_p.T380T|FGFR1_ENST00000397091.5_Silent_p.T380T|FGFR1_ENST00000425967.3_Silent_p.T413T|FGFR1_ENST00000532791.1_Silent_p.T382T|FGFR1_ENST00000335922.5_Silent_p.T374T|FGFR1_ENST00000341462.5_Silent_p.T382T|FGFR1_ENST00000356207.5_Silent_p.T293T|FGFR1_ENST00000326324.6_Silent_p.T291T|FGFR1_ENST00000397113.2_Silent_p.T380T|FGFR1_ENST00000397103.1_Silent_p.T293T NM_001174063.1|NM_015850.3|NM_023110.2 NP_001167534.1|NP_056934.2|NP_075598.2 P11362 FGFR1_HUMAN fibroblast growth factor receptor 1 382 axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development extracellular region|integral to plasma membrane|membrane fraction ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity FGFR1/ZNF703(2) breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2) 50 all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442) Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065) Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24) Palifermin(DB00039) GGAAGGCCCCTGTGCAATAGA 0.557000 1 T """BCR, FOP, ZNF198, CEP1""" """MPD, NHL""" """Pfeiffer syndrome, Kallman syndrome""" 19 29 0 0 1 0 0 DOCK2 1794 broad.mit.edu 37 5 169468088 169468088 + Missense_Mutation SNP T T A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr5:169468088T>A ENST00000256935.8 + 37 3775 c.3695T>A c.(3694-3696)cTg>cAg p.L1232Q DOCK2_ENST00000540750.1_Missense_Mutation_p.L293Q|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Missense_Mutation_p.L724Q NM_004946.2 NP_004937.1 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 1232 DHR-2.|Interaction with CRKL. actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 160 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GATCTTCACCTGGACTGTGAC 0.512000 21 28 0 0 1 0 0 ATRX 546 broad.mit.edu 37 X 76938077 76938077 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chrX:76938077C>T ENST00000373344.5 - 9 2885 c.2671G>A c.(2671-2673)Gca>Aca p.A891T ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.A853T NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 891 DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding p.?(1) bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) GTGCCTTCTGCTGAAGAGAAA 0.413000 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 91 161 0 0 1 0 0 SPTB 6710 broad.mit.edu 37 14 65242017 65242017 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr14:65242017C>A ENST00000389722.3 - 22 4721 c.4668G>T c.(4666-4668)gaG>gaT p.E1556D SPTB_ENST00000556626.1_Missense_Mutation_p.E1556D|SPTB_ENST00000542895.1_Missense_Mutation_p.E1556D|SPTB_ENST00000389720.3_Missense_Mutation_p.E1556D|SPTB_ENST00000389721.5_Missense_Mutation_p.E1556D NM_001024858.2 NP_001020029.1 P11277 SPTB1_HUMAN spectrin, beta, erythrocytic 1556 actin filament capping|axon guidance cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton actin filament binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3) 106 all_lung(585;4.15e-09) all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628) CCAGGCGCTCCTCAAGGTCCT 0.667000 13 30 4.3838e-07 5.10798e-07 1 1 0 HPCAL1 3241 broad.mit.edu 37 2 10560060 10560060 + Silent SNP C C A rs142524922 TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr2:10560060C>A ENST00000381765.3 + 4 703 c.177C>A c.(175-177)ggC>ggA p.G59G HPCAL1_ENST00000307845.3_Silent_p.G59G NM_134421.2 NP_602293.1 P37235 HPCL1_HUMAN hippocalcin-like 1 59 calcium ion binding endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 9 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.214) TCCCCTACGGCGACGCTTCCA 0.602000 8 69 0.000157383 0.000170454 1 1 0 FMO1 2326 broad.mit.edu 37 1 171227350 171227350 + Nonsense_Mutation SNP A A T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:171227350A>T ENST00000354841.4 + 1 255 c.124A>T c.(124-126)Aga>Tga p.R42* FMO1_ENST00000469112.1_3'UTR|FMO1_ENST00000402921.2_Nonsense_Mutation_p.R42*|FMO1_ENST00000367750.3_Nonsense_Mutation_p.R42* Q01740 FMO1_HUMAN flavin containing monooxygenase 1 42 NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2) 27 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) GGGGCTGTGGAGATTCACCGT 0.537000 38 145 0 0 1 0 0 LILRP2 79166 broad.mit.edu 37 19 55221478 55221478 + RNA SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:55221478G>T ENST00000413439.1 + 0 1258 ACCTCGTCCAGGGCTCTGGCC 0.637000 17 40 3.52763e-06 3.99016e-06 1 1 0 SCLT1 132320 broad.mit.edu 37 4 129867217 129867217 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr4:129867217C>A ENST00000281142.5 - 16 1887 c.1384G>T c.(1384-1386)Gat>Tat p.D462Y SCLT1_ENST00000434680.1_Intron|SCLT1_ENST00000439369.2_Intron|SCLT1_ENST00000503215.1_Intron|SCLT1_ENST00000502495.1_5'UTR NM_144643.2 NP_653244.2 Q96NL6 SCLT1_HUMAN sodium channel and clathrin linker 1 462 centrosome central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1) 29 AGCTGAAGATCATCTTTTGAA 0.353000 7 19 0.000157383 0.000170454 1 1 0 HTRA2 27429 broad.mit.edu 37 2 74758070 74758070 + Silent SNP A A T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr2:74758070A>T ENST00000258080.3 + 3 1374 c.744A>T c.(742-744)tcA>tcT p.S248S HTRA2_ENST00000352222.3_Intron|HTRA2_ENST00000467961.1_3'UTR NM_013247.4 NP_037379.1 O43464 HTRA2_HUMAN HtrA serine peptidase 2 248 Serine protease. apoptosis|proteolysis|response to stress CD40 receptor complex|endoplasmic reticulum membrane|internal side of plasma membrane|mitochondrial intermembrane space|mitochondrial membrane|nucleus serine-type endopeptidase activity|unfolded protein binding endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 12 TGGGACGCTCAGCTGATGTCC 0.547000 104 218 0 0 1 0 0 PPM1H 57460 broad.mit.edu 37 12 63060986 63060986 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr12:63060986G>A ENST00000228705.6 - 9 1669 c.1369C>T c.(1369-1371)Cct>Tct p.P457S PPM1H_ENST00000551214.1_5'UTR NM_020700.1 NP_065751.1 Q9ULR3 PPM1H_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1H 457 PP2C-like. phosphoprotein phosphatase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1) 18 GBM - Glioblastoma multiforme(1;0.000443)|BRCA - Breast invasive adenocarcinoma(9;0.209) GBM - Glioblastoma multiforme(28;0.0126) TCACAGTTAGGAAGAAACTGA 0.403000 7 22 0 0 1 0 0 SCN2A 6326 broad.mit.edu 37 2 166245269 166245269 + Missense_Mutation SNP T T G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr2:166245269T>G ENST00000357398.3 + 27 5243 c.4953T>G c.(4951-4953)ttT>ttG p.F1651L SCN2A_ENST00000375437.2_Missense_Mutation_p.F1651L|SCN2A_ENST00000283256.6_Missense_Mutation_p.F1651L|SCN2A_ENST00000375427.2_Missense_Mutation_p.F1651L Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha subunit 1651 myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Lamotrigine(DB00555) CGCTGCTCTTTGCTTTGATGA 0.498000 44 110 0 0 1 0 0 RNF133 168433 broad.mit.edu 37 7 122338380 122338380 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr7:122338380G>A ENST00000340112.2 - 1 830 c.593C>T c.(592-594)aCa>aTa p.T198I CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000313070.7_Intron NM_139175.1 NP_631914.1 Q8WVZ7 RN133_HUMAN ring finger protein 133 198 endoplasmic reticulum membrane|integral to membrane ligase activity|zinc ion binding NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1) 21 GGTAGCAGTTGTGACAATCAC 0.398000 21 74 0 0 1 0 0 CEP350 9857 broad.mit.edu 37 1 179989822 179989822 + Silent SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:179989822C>T ENST00000367607.3 + 12 3331 c.2913C>T c.(2911-2913)gcC>gcT p.A971A NM_014810.4 NP_055625.4 Q5VT06 CE350_HUMAN centrosomal protein 350kDa 971 centrosome|nucleus|spindle central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 66 AAGACAAAGCCAAAATATCTC 0.498000 48 159 0 0 1 0 0 ESM1 11082 broad.mit.edu 37 5 54281295 54281295 + Silent SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr5:54281295C>T ENST00000381405.4 - 1 196 c.51G>A c.(49-51)gtG>gtA p.V17V ESM1_ENST00000598310.1_Intron|ESM1_ENST00000381403.4_Silent_p.V17V NM_007036.4 NP_008967.1 Q9NQ30 ESM1_HUMAN endothelial cell-specific molecule 1 17 angiogenesis|regulation of cell growth extracellular region growth factor activity|insulin-like growth factor binding breast(1)|kidney(1)|large_intestine(4)|lung(4) 10 Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.116) Lung(15;0.23) TCCAGGCGGCCACCAGGTGTG 0.602000 22 20 0 0 1 0 0 CD22 933 broad.mit.edu 37 19 35829151 35829151 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:35829151C>A ENST00000085219.5 + 6 1132 c.1066C>A c.(1066-1068)Ctg>Atg p.L356M CD22_ENST00000341773.6_Intron|CD22_ENST00000594250.1_Intron|CD22_ENST00000544992.2_Missense_Mutation_p.L356M|CD22_ENST00000270311.6_Missense_Mutation_p.L236M|CD22_ENST00000419549.2_Missense_Mutation_p.L184M|CD22_ENST00000536635.2_Intron NM_001771.3 NP_001762.2 P20273 CD22_HUMAN CD22 molecule 356 Ig-like C2-type 3. cell adhesion protein binding|sugar binding breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 54 all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162) Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417) OspA lipoprotein(DB00045) TTGCATGTCACTGGCCAATCC 0.537000 25 86 2.36697e-06 2.69362e-06 1 1 0 COL21A1 81578 broad.mit.edu 37 6 55935559 55935559 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr6:55935559C>A ENST00000244728.5 - 21 2400 c.2003G>T c.(2002-2004)gGg>gTg p.G668V COL21A1_ENST00000535941.1_Missense_Mutation_p.G668V|COL21A1_ENST00000370819.1_Missense_Mutation_p.G665V|COL21A1_ENST00000467045.1_5'UTR|COL21A1_ENST00000370808.2_Missense_Mutation_p.G68V NM_030820.3 NP_110447.2 Q96P44 COLA1_HUMAN collagen, type XXI, alpha 1 668 cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2) 41 Lung NSC(77;0.0483) LUSC - Lung squamous cell carcinoma(124;0.181) CCCAGAAGCCCCAGGCATCCC 0.303000 11 27 4.3838e-07 5.10798e-07 1 1 0 PEG3 5178 broad.mit.edu 37 19 57335046 57335046 + Splice_Site SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:57335046G>A ENST00000326441.9 - 5 759 c.394_splice c.e5-1 p.D132_splice ZIM2_ENST00000593931.1_Splice_Site_p.D6_splice|PEG3_ENST00000598410.1_Splice_Site_p.D6_splice|ZIM2_ENST00000221722.5_Splice_Site_p.D6_splice|ZIM2_ENST00000593711.1_Splice_Site_p.D6_splice|ZIM2_ENST00000601070.1_Splice_Site_p.D6_splice|PEG3_ENST00000423103.2_Splice_Site_p.D132_splice|PEG3_ENST00000593695.1_Splice_Site_p.D6_splice|ZIM2_ENST00000391708.3_Splice_Site_p.D6_splice|ZIM2_ENST00000599935.1_Splice_Site_p.D6_splice NM_006210.2 NP_006201.1 Q9GZU2 PEG3_HUMAN paternally expressed 3 132 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6) 170 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) TGTTGTTGTCGTCTAAGAGGA 0.532000 17 69 0 0 1 0 0 ABL1 25 broad.mit.edu 37 9 133753854 133753854 + Silent SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr9:133753854G>A ENST00000318560.5 + 8 1704 c.1323G>A c.(1321-1323)ccG>ccA p.P441P NM_005157.4 NP_005148.2 P00519 ABL1_HUMAN c-abl oncogene 1, non-receptor tyrosine kinase 441 Protein kinase. actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 1195 all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.4e-05) Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619) CCCCTTACCCGGGAATTGACC 0.493000 """T, Mis""" """BCR, ETV6, NUP214""" """CML, ALL, T-ALL""" 23 136 0 0 1 0 0 OSBP 5007 broad.mit.edu 37 11 59347647 59347647 + Splice_Site SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:59347647C>A ENST00000263847.1 - 11 2357 c.1878_splice c.e11+1 p.K626_splice NM_002556.2 NP_002547.1 P22059 OSBP1_HUMAN oxysterol binding protein 626 lipid transport Golgi membrane oxysterol binding NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 26 all_epithelial(135;0.000236) BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207) CTTCCCTTACCTTTCTTGCTA 0.378000 15 42 8.60227e-14 1.16094e-13 1 1 0 KIRREL 55243 broad.mit.edu 37 1 158059420 158059420 + Splice_Site SNP T T C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:158059420T>C ENST00000368172.1 + 5 625 c.e5+2 KIRREL_ENST00000360089.4_Splice_Site|KIRREL_ENST00000368173.3_Splice_Site|KIRREL_ENST00000359209.6_Splice_Site|KIRREL_ENST00000416935.2_Splice_Site|KIRREL_ENST00000392272.2_Splice_Site Q96J84 KIRR1_HUMAN kin of IRRE like (Drosophila) integral to membrane p.?(3) NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1) 38 all_hematologic(112;0.0378) ATGTGAACGGTGAGTGAGTGG 0.612000 7 138 0 0 1 0 0 PCDHB8 56128 broad.mit.edu 37 5 140558148 140558148 + Missense_Mutation SNP A A G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr5:140558148A>G ENST00000239444.2 + 1 778 c.533A>G c.(532-534)tAt>tGt p.Y178C NM_019120.3 NP_061993.2 Q9UN66 PCDB8_HUMAN 178 Cadherin 2. 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) CCCAACTCCTATTTTCGGGTC 0.498000 22 91 0 0 1 0 0 METTL13 51603 broad.mit.edu 37 1 171753568 171753568 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:171753568G>T ENST00000361735.3 + 2 1108 c.842G>T c.(841-843)cGc>cTc p.R281L METTL13_ENST00000367737.5_Intron|METTL13_ENST00000458517.1_Missense_Mutation_p.R280L|METTL13_ENST00000362019.3_Missense_Mutation_p.R195L NM_015935.4 NP_057019.3 Q8N6R0 MTL13_HUMAN methyltransferase like 13 281 methyltransferase activity|protein binding breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3) 41 GGGGAGCCACGCTACACCCTC 0.602000 23 17 1.64293e-13 2.20269e-13 1 1 0 DUS1L 64118 broad.mit.edu 37 17 80019841 80019841 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr17:80019841G>A ENST00000354321.7 - 5 1014 c.529C>T c.(529-531)Cgc>Tgc p.R177C DUS1L_ENST00000306796.5_Missense_Mutation_p.R177C Q6P1R4 DUS1L_HUMAN dihydrouridine synthase 1-like (S. cerevisiae) 177 tRNA processing flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity breast(1)|endometrium(1)|lung(2)|ovary(1)|skin(1) 6 all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211) TCCTTGGTGCGTCCGTGCACC 0.667000 5 148 0 0 1 0 0 MEGF10 84466 broad.mit.edu 37 5 126738285 126738285 + Silent SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr5:126738285C>T ENST00000274473.6 + 9 1095 c.828C>T c.(826-828)aaC>aaT p.N276N MEGF10_ENST00000508365.1_Silent_p.N276N|MEGF10_ENST00000503335.2_Silent_p.N276N|MEGF10_ENST00000418761.2_Silent_p.N276N NM_032446.2 NP_115822.1 Q96KG7 MEG10_HUMAN multiple EGF-like-domains 10 276 Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern. cell adhesion|phagocytosis basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 68 Prostate(80;0.165) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123) TTGGAAAGAACTGTTCCCAAG 0.537000 9 32 0 0 1 0 0 CGN 57530 broad.mit.edu 37 1 151504914 151504914 + Nonsense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:151504914C>T ENST00000271636.7 + 14 2741 c.2608C>T c.(2608-2610)Cag>Tag p.Q870* NM_020770.2 NP_065821.1 Q9P2M7 CING_HUMAN cingulin 864 myosin complex|tight junction actin binding|motor activity NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 45 Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) LUSC - Lung squamous cell carcinoma(543;0.181) GCAAGCCCTGCAGCAGCTCCA 0.577000 24 87 0 0 1 0 0 TMEM130 222865 broad.mit.edu 37 7 98449125 98449125 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr7:98449125C>A ENST00000450876.1 - 6 1988 c.673G>T c.(673-675)Ggg>Tgg p.G225W TMEM130_ENST00000345589.4_Missense_Mutation_p.G207W|TMEM130_ENST00000546258.1_Missense_Mutation_p.G290W|TMEM130_ENST00000339375.4_Missense_Mutation_p.G309W|TMEM130_ENST00000416379.2_Missense_Mutation_p.G309W Q8N3G9 TM130_HUMAN transmembrane protein 130 309 PKD. Golgi membrane|integral to membrane breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 25 all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) CAGTAGTCCCCAGGGTCCCTG 0.597000 30 30 1.08312e-15 1.51178e-15 1 1 0 FAM71F2 346653 broad.mit.edu 37 7 128312492 128312492 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr7:128312492C>T ENST00000480462.1 + 1 147 c.41C>T c.(40-42)cCa>cTa p.P14L FAM71F2_ENST00000378704.3_Missense_Mutation_p.P14L|FAM71F2_ENST00000460349.1_3'UTR|FAM71F2_ENST00000477515.1_Missense_Mutation_p.P14L Q6NXP2 F71F2_HUMAN family with sequence similarity 71, member F2 14 NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(2) 7 GTCAGGGAACCAGGCCCTGGA 0.512000 8 8 0 0 1 0 0 CDK9 1025 broad.mit.edu 37 9 130550660 130550660 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr9:130550660G>T ENST00000373265.2 + 5 951 c.951G>T c.(949-951)ttG>ttT p.L317F CDK9_ENST00000373264.4_Missense_Mutation_p.L200F|CDK9_ENST00000480353.1_3'UTR P50750 CDK9_HUMAN cyclin-dependent kinase 9 200 cell proliferation|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction transcription elongation factor complex ATP binding|cyclin-dependent protein kinase activity|DNA binding|protein binding|RNA polymerase II carboxy-terminal domain kinase activity lung(1) 1 CGGAGCTGTTGCTCGGTGAGG 0.682000 9 17 0.0581538 0.0590221 1 1 0 TICRR 90381 broad.mit.edu 37 15 90162953 90162953 + Nonsense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr15:90162953C>T ENST00000268138.7 + 18 3139 c.3034C>T c.(3034-3036)Cga>Tga p.R1012* TICRR_ENST00000560985.1_Nonsense_Mutation_p.R1011*|KIF7_ENST00000558928.1_Intron TOPBP1-interacting checkpoint and replication regulator p.R1012*(1) AAGTCTGAGACGAAGTCCTCG 0.423000 19 67 0 0 1 0 0 LOC653786 653786 broad.mit.edu 37 16 22587948 22587948 + RNA SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr16:22587948G>T ENST00000550753.1 + 0 2423 NR_003676.2 CTCCAGTCGTGGGGTCTTTGG 0.522000 27 85 8.16721e-17 1.16311e-16 1 1 0 ITGBL1 9358 broad.mit.edu 37 13 102367914 102367914 + Splice_Site SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr13:102367914G>T ENST00000376180.3 + 11 1614 c.1393_splice c.e11-1 p.G465_splice ITGBL1_ENST00000376162.3_Splice_Site_p.G372_splice|ITGBL1_ENST00000545560.2_Splice_Site_p.G324_splice NM_001271756.1|NM_004791.1 NP_001258685.1|NP_004782.1 O95965 ITGBL_HUMAN integrin, beta-like 1 (with EGF-like repeat domains) 465 Cysteine-rich tandem repeats. cell-matrix adhesion|integrin-mediated signaling pathway extracellular region|integrin complex binding|receptor activity breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3) 31 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) TTATTGCAGGGAATGGAATAT 0.343000 61 100 2.3441e-25 3.5865e-25 1 1 0 CARD9 64170 broad.mit.edu 37 9 139262253 139262253 + Missense_Mutation SNP C C T rs141270365 byFrequency TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr9:139262253C>T ENST00000371732.5 - 8 1270 c.1105G>A c.(1105-1107)Gca>Aca p.A369T CARD9_ENST00000371734.3_Missense_Mutation_p.A369T NM_052813.4 NP_434700.2 Q9H257 CARD9_HUMAN caspase recruitment domain family, member 9 369 positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of stress-activated MAPK cascade|regulation of apoptosis cytoplasm CARD domain binding|protein homodimerization activity endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(3)|skin(1) 15 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06) GCGTGCTGTGCGTGCAGCTCC 0.711000 3 35 0 0 1 0 0 MOGAT1 116255 broad.mit.edu 37 2 223553080 223553080 + Missense_Mutation SNP A A T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr2:223553080A>T ENST00000446656.3 + 2 112 c.112A>T c.(112-114)Atc>Ttc p.I38F NM_058165.2 NP_477513.2 Q96PD6 MOGT1_HUMAN monoacylglycerol O-acyltransferase 1 38 glycerol metabolic process endoplasmic reticulum membrane|integral to membrane 2-acylglycerol O-acyltransferase activity breast(1)|cervix(1)|endometrium(1)|lung(5)|urinary_tract(1) 9 Renal(207;0.0183) Epithelial(121;4.13e-10)|all cancers(144;2.06e-07)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0105) GTCCATTGGAATCACTGTGAT 0.453000 3 12 0 0 1 0 0 NEUROD1 4760 broad.mit.edu 37 2 182543084 182543084 + Silent SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr2:182543084G>A ENST00000295108.3 - 2 961 c.504C>T c.(502-504)ttC>ttT p.F168F NEUROD1_ENST00000496876.1_Intron|CERKL_ENST00000479558.1_Intron NM_002500.4 NP_002491.2 Q13562 NDF1_HUMAN neuronal differentiation 1 168 amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus cytoplasm|nucleus chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 OV - Ovarian serous cystadenocarcinoma(117;0.088) GCGTCTGAACGAAGGAGACCA 0.562000 15 90 0 0 1 0 0 MBTD1 54799 broad.mit.edu 37 17 49270275 49270275 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr17:49270275G>A ENST00000586178.1 - 15 1901 c.1558C>T c.(1558-1560)Cgt>Tgt p.R520C MBTD1_ENST00000376381.2_3'UTR|MBTD1_ENST00000415868.1_Missense_Mutation_p.R520C NM_017643.2 NP_060113.2 Q05BQ5 MBTD1_HUMAN mbt domain containing 1 520 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)|urinary_tract(1) 12 BRCA - Breast invasive adenocarcinoma(22;1.54e-08) CTCAAGAGACGATGAATAATT 0.423000 15 151 0 0 1 0 0 TREML2 79865 broad.mit.edu 37 6 41165959 41165959 + Silent SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr6:41165959G>T ENST00000483722.1 - 2 449 c.264C>A c.(262-264)gtC>gtA p.V88V NM_024807.2 NP_079083.2 Q5T2D2 TRML2_HUMAN triggering receptor expressed on myeloid cells-like 2 88 Ig-like V-type. T cell activation cell surface|integral to membrane|plasma membrane protein binding|receptor activity breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1) 18 Ovarian(28;0.0418)|Colorectal(47;0.196) TGGTGATGTTGACCACCTTGG 0.592000 4 76 0.184627 0.185704 1 1 0 ZNF653 115950 broad.mit.edu 37 19 11598615 11598615 + Silent SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:11598615C>T ENST00000293771.5 - 4 799 c.663G>A c.(661-663)gcG>gcA p.A221A CTC-398G3.6_ENST00000585656.1_Intron NM_138783.3 NP_620138.2 Q96CK0 ZN653_HUMAN zinc finger protein 653 221 Poly-Ala. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(1) 17 CTGCCGCTGCCGCTGCCGCAG 0.667000 14 52 0 0 1 0 0 MARCH6 10299 broad.mit.edu 37 5 10426634 10426634 + Splice_Site SNP G G C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr5:10426634G>C ENST00000274140.5 + 24 2638 c.2506_splice c.e24+1 p.G836_splice MARCH6_ENST00000503788.1_Splice_Site_p.G731_splice|MARCH6_ENST00000449913.2_Splice_Site_p.G788_splice|MARCH6_ENST00000510792.1_Splice_Site_p.G534_splice NM_005885.2 NP_005876.2 O60337 MARH6_HUMAN membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase 836 protein K48-linked ubiquitination integral to endoplasmic reticulum membrane ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3) 54 TCCTTTACTAGGTACGTAATG 0.423000 56 245 0 0 1 0 0 TRPV6 55503 broad.mit.edu 37 7 142573633 142573633 + Missense_Mutation SNP G G A rs146718533 TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr7:142573633G>A ENST00000359396.3 - 7 1032 c.787C>T c.(787-789)Cgg>Tgg p.R263W RP11-114L10.2_ENST00000438839.1_RNA NM_018646.3 NP_061116.2 Q9H1D0 TRPV6_HUMAN transient receptor potential cation channel, subfamily V, member 6 263 regulation of calcium ion-dependent exocytosis integral to plasma membrane calcium channel activity|calmodulin binding breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 42 Melanoma(164;0.059) GTGTGCTTCCGCTTCTGCATC 0.522000 68 71 0 0 1 0 0 QRICH2 84074 broad.mit.edu 37 17 74274102 74274102 + Silent SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr17:74274102G>A ENST00000262765.5 - 15 4766 c.4587C>T c.(4585-4587)caC>caT p.H1529H NM_032134.1 NP_115510.1 Q9H0J4 QRIC2_HUMAN glutamine rich 2 1529 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4) 62 GGCACTGGGCGTGCAGCAGCT 0.622000 23 74 0 0 1 0 0 MYO1H 283446 broad.mit.edu 37 12 109877484 109877484 + Silent SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr12:109877484C>T ENST00000310903.5 + 24 2401 c.2295C>T c.(2293-2295)aaC>aaT p.N765N MYO1H_ENST00000431443.2_Silent_p.N775N B4DNW6 B4DNW6_HUMAN myosin IH 0 myosin complex motor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 47 GTCCTGACAACGAGGAATTTA 0.438000 12 21 0 0 1 0 0 MYH3 4621 broad.mit.edu 37 17 10533167 10533167 + Nonsense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr17:10533167C>A ENST00000583535.1 - 39 5737 c.5650G>T c.(5650-5652)Gag>Tag p.E1884* MYH3_ENST00000226209.7_Nonsense_Mutation_p.E1884* NM_002470.3 NP_002461.2 P11055 MYH3_HUMAN myosin, heavy chain 3, skeletal muscle, embryonic 1884 muscle filament sliding|muscle organ development cytosol|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 83 ACAGCCTCCTCCGCCTGCCTC 0.522000 43 105 1.32136e-16 1.87939e-16 1 1 0 TRMT2B 79979 broad.mit.edu 37 X 100291975 100291975 + Nonsense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chrX:100291975C>A ENST00000338687.7 - 5 1196 c.391G>T c.(391-393)Gga>Tga p.G131* TRMT2B_ENST00000545398.1_Nonsense_Mutation_p.G176*|TRMT2B_ENST00000372936.3_Nonsense_Mutation_p.G176*|TRMT2B_ENST00000372931.5_Nonsense_Mutation_p.G176*|TRMT2B_ENST00000478422.1_5'UTR|TRMT2B_ENST00000372939.1_Nonsense_Mutation_p.G131*|TRMT2B_ENST00000372935.1_Nonsense_Mutation_p.G176* Q96GJ1 TRM2_HUMAN tRNA methyltransferase 2 homolog B (S. cerevisiae) 176 tRNA (uracil-5-)-methyltransferase activity breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 24 CTCCAAGTTCCCAGGTAGAAC 0.483000 17 58 5.03518e-11 6.46105e-11 1 1 0 MCM3 4172 broad.mit.edu 37 6 52147593 52147593 + Silent SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr6:52147593G>T ENST00000596288.1 - 3 420 c.393C>A c.(391-393)tcC>tcA p.S131S MCM3_ENST00000229854.7_Silent_p.S86S|MCM3_ENST00000419835.2_Silent_p.S40S NM_002388.4 NP_002379.3 P25205 MCM3_HUMAN minichromosome maintenance complex component 3 86 cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle alpha DNA polymerase:primase complex|centrosome|MCM complex|perinuclear region of cytoplasm ATP binding|DNA binding|helicase activity|protein binding endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 20 Lung NSC(77;0.0931) TAGCATCAATGGAGGCCACAA 0.502000 7 35 0.0293803 0.0299002 1 1 0 KLHL22 84861 broad.mit.edu 37 22 20796599 20796599 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr22:20796599G>A ENST00000328879.4 - 7 1822 c.1666C>T c.(1666-1668)Cgc>Tgc p.R556C KLHL22_ENST00000440659.2_Missense_Mutation_p.R413C NM_032775.3 NP_116164.2 Q53GT1 KLH22_HUMAN kelch-like family member 22 556 cell division Cul3-RING ubiquitin ligase complex breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1) 20 Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173) CGGCTGCCGCGGTTGTGTGAG 0.612000 6 73 0 0 1 0 0 CPSF3L 54973 broad.mit.edu 37 1 1248219 1248219 + Silent SNP A A G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:1248219A>G ENST00000540437.1 - 14 1715 c.1260T>C c.(1258-1260)caT>caC p.H420H CPSF3L_ENST00000421495.2_Silent_p.H156H|CPSF3L_ENST00000435064.1_Silent_p.H414H|CPSF3L_ENST00000450926.2_Silent_p.H392H|CPSF3L_ENST00000462432.1_5'UTR|CPSF3L_ENST00000411962.1_Silent_p.H316H|CPSF3L_ENST00000419704.1_Silent_p.H313H|CPSF3L_ENST00000545578.1_Silent_p.H385H NM_001256456.1 NP_001243385.1 Q5TA45 INT11_HUMAN cleavage and polyadenylation specific factor 3-like 414 Golgi apparatus|nucleus hydrolase activity endometrium(4)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(3) 13 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(86;4.35e-21)|Colorectal(212;0.000166)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.00235)|BRCA - Breast invasive adenocarcinoma(365;0.00255)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0349)|Lung(427;0.201) TGGCCTCGCCATGCACCAGCA 0.657000 12 37 0 0 1 0 0 HSPA2 3306 broad.mit.edu 37 14 65009161 65009161 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr14:65009161G>T ENST00000247207.6 + 1 1976 c.1594G>T c.(1594-1596)Gat>Tat p.D532Y HSPA2_ENST00000394709.1_Missense_Mutation_p.D532Y NM_021979.3 NP_068814.2 P54652 HSP72_HUMAN heat shock 70kDa protein 2 532 response to unfolded protein|spermatid development cell surface ATP binding|unfolded protein binding breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 22 all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045) CAAATCGGAAGATGAGGCGAA 0.532000 32 116 7.72975e-29 1.20485e-28 1 1 0 DST 667 broad.mit.edu 37 6 56516011 56516011 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr6:56516011C>A ENST00000370754.5 - 10 1146 c.1147G>T c.(1147-1149)Gtt>Ttt p.V383F DST_ENST00000370769.4_Missense_Mutation_p.V205F|DST_ENST00000370788.2_Missense_Mutation_p.V205F|DST_ENST00000361203.3_Missense_Mutation_p.V205F|DST_ENST00000312431.6_Missense_Mutation_p.V205F|DST_ENST00000421834.2_Missense_Mutation_p.V205F Q03001 DYST_HUMAN dystonin 205 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) TTGCTTTGAACAGCAACAGTA 0.343000 4 20 0.150653 0.15194 1 1 0 SOX6 55553 broad.mit.edu 37 11 16424226 16424226 + Translation_Start_Site SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:16424226C>A ENST00000527619.1 - 0 166 SOX6_ENST00000396356.3_Intron|SOX6_ENST00000528252.1_Intron|SOX6_ENST00000528429.1_Intron|SOX6_ENST00000352083.6_Intron|SOX6_ENST00000533658.1_Intron NM_017508.2 NP_059978.1 P35712 SOX6_HUMAN SRY (sex determining region Y)-box 6 muscle organ development nucleus sequence-specific DNA binding transcription factor activity NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2) 43 TCTTTCCTTCCTCCACCCACT 0.353000 9 45 0.010729 0.0110442 1 1 0 TNN 63923 broad.mit.edu 37 1 175067502 175067502 + Silent SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:175067502G>A ENST00000239462.4 + 9 2003 c.1890G>A c.(1888-1890)cgG>cgA p.R630R NM_022093.1 NP_071376.1 Q9UQP3 TENN_HUMAN tenascin N 630 Fibronectin type-III 5. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 156 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) TGACTGACCGGGTGACAGAGA 0.542000 12 255 0 0 1 0 0 PCDH8 5100 broad.mit.edu 37 13 53420691 53420691 + Silent SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr13:53420691G>T ENST00000377942.3 - 1 2084 c.1881C>A c.(1879-1881)acC>acA p.T627T PCDH8_ENST00000338862.4_Silent_p.T627T NM_002590.3 NP_002581.2 O95206 PCDH8_HUMAN protocadherin 8 627 Cadherin 6. cell-cell signaling|homophilic cell adhesion cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane calcium ion binding breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1) 36 Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.19e-08) TGTCCTTTGCGGTGCGCCCAG 0.682000 3 11 2.56e-06 2.90591e-06 1 1 0 TP53 7157 broad.mit.edu 37 17 7578469 7578469 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr17:7578469C>A ENST00000420246.2 - 5 593 c.461G>T c.(460-462)gGc>gTc p.G154V TP53_ENST00000359597.4_Missense_Mutation_p.G154V|TP53_ENST00000455263.2_Missense_Mutation_p.G154V|TP53_ENST00000413465.2_Missense_Mutation_p.G154V|TP53_ENST00000269305.4_Missense_Mutation_p.G154V|TP53_ENST00000445888.2_Missense_Mutation_p.G154V NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 154 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. G -> A (in sporadic cancers; somatic mutation).|G -> C (in a sporadic cancer; somatic mutation).|G -> D (in sporadic cancers; somatic mutation).|G -> I (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> S (in sporadic cancers; somatic mutation).|G -> V (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.G154V(46)|p.0?(8)|p.G154D(6)|p.?(5)|p.P152fs*14(5)|p.G61V(3)|p.G22V(3)|p.G154I(3)|p.T155_R156insDSTPPPGT(3)|p.G154fs*14(2)|p.P153fs*26(2)|p.P153fs*22(2)|p.T23_R24insDSTPPPGT(1)|p.P151_V173del23(1)|p.D148_T155delDSTPPPGT(1)|p.G154A(1)|p.D148fs*23(1)|p.T62_R63insDSTPPPGT(1)|p.Q144_G154del11(1)|p.S149fs*72(1)|p.G154fs*22(1)|p.G154_R156delGTR(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GACGCGGGTGCCGGGCGGGGG 0.607000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 21 27 8.04996e-18 1.15818e-17 1 1 0 TIMM21 29090 broad.mit.edu 37 18 71822592 71822592 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr18:71822592G>T ENST00000580087.1 + 3 702 c.416G>T c.(415-417)aGc>aTc p.S139I TIMM21_ENST00000169551.6_Missense_Mutation_p.S139I Q9BVV7 TI21L_HUMAN translocase of inner mitochondrial membrane 21 homolog (yeast) 139 protein transport|transmembrane transport integral to membrane|mitochondrial membrane TCCAGTCCTAGCAAGATATAT 0.388000 8 55 0.000274275 0.000293932 1 1 0 TMEM52B 120939 broad.mit.edu 37 12 10339077 10339077 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr12:10339077C>T ENST00000298530.3 + 3 714 c.136C>T c.(136-138)Cgc>Tgc p.R46C TMEM52B_ENST00000381923.2_Missense_Mutation_p.R66C|TMEM52B_ENST00000536952.1_Missense_Mutation_p.R66C NM_153022.2 NP_694567.1 transmembrane protein 52B CCTGTGCTTCCGCTGCTGCTG 0.607000 29 53 0 0 1 0 0 GOLGB1 2804 broad.mit.edu 37 3 121448804 121448804 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr3:121448804G>A ENST00000393667.3 - 3 267 c.157C>T c.(157-159)Cgc>Tgc p.R53C GOLGB1_ENST00000472829.1_5'UTR|GOLGB1_ENST00000340645.5_Missense_Mutation_p.R53C NM_001256486.1 NP_001243415.1 Q14789 GOGB1_HUMAN golgin B1 53 Golgi organization ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane protein binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13) 119 GBM - Glioblastoma multiforme(114;0.0989) TAAGCCAGGCGCTCCTGAACA 0.388000 20 37 0 0 1 0 0 HK2 3099 broad.mit.edu 37 2 75113790 75113790 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr2:75113790G>A ENST00000290573.2 + 15 2809 c.2209G>A c.(2209-2211)Ggc>Agc p.G737S HK2_ENST00000409174.1_Missense_Mutation_p.G709S NM_000189.4 NP_000180.2 P52789 HXK2_HUMAN hexokinase 2 737 Catalytic. apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport cytosol|mitochondrial outer membrane ATP binding|glucokinase activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 43 ACTCAACCCCGGCAAGCAGAG 0.547000 6 73 0 0 1 0 0 HMGCS2 3158 broad.mit.edu 37 1 120307036 120307036 + Silent SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:120307036G>A ENST00000369406.3 - 2 367 c.318C>T c.(316-318)tgC>tgT p.C106C HMGCS2_ENST00000476640.1_5'UTR|HMGCS2_ENST00000544913.2_Silent_p.C106C NM_005518.3 NP_005509.1 P54868 HMCS2_HUMAN 3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial) 106 acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process mitochondrial matrix hydroxymethylglutaryl-CoA synthase activity NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 28 all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219) all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124) Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595) CCACCGTCAGGCACAGGGAGT 0.542000 44 81 0 0 1 0 0 ANKRD6 22881 broad.mit.edu 37 6 90340611 90340611 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr6:90340611G>A ENST00000369408.5 + 15 2316 c.1967G>A c.(1966-1968)cGa>cAa p.R656Q ANKRD6_ENST00000522441.1_Missense_Mutation_p.R691Q|ANKRD6_ENST00000339746.4_Missense_Mutation_p.R691Q|ANKRD6_ENST00000447838.2_Missense_Mutation_p.R686Q|LYRM2_ENST00000520441.1_Intron|ANKRD6_ENST00000520793.1_Missense_Mutation_p.R627Q NM_001242813.1 NP_001229742.1 Q9Y2G4 ANKR6_HUMAN ankyrin repeat domain 6 691 protein binding NS(1)|endometrium(3)|large_intestine(7)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|stomach(2) 21 all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239) BRCA - Breast invasive adenocarcinoma(108;0.0209) GAAGAAGCACGAAGCCAAGCC 0.443000 3 15 0 0 1 0 0 NLRP11 204801 broad.mit.edu 37 19 56312964 56312964 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:56312964C>A ENST00000443188.1 - 7 2855 c.2145G>T c.(2143-2145)gaG>gaT p.E715D NLRP11_ENST00000592953.1_Missense_Mutation_p.E616D|NLRP11_ENST00000589824.2_Missense_Mutation_p.E661D|NLRP11_ENST00000589093.1_Missense_Mutation_p.E715D|NLRP11_ENST00000360133.3_Missense_Mutation_p.E661D NM_145007.3 NP_659444.2 P59045 NAL11_HUMAN NLR family, pyrin domain containing 11 715 ATP binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 66 Colorectal(82;0.0002) GBM - Glioblastoma multiforme(193;0.0325) GGCATGTGGGCTCGTGCAGGA 0.498000 31 83 1.21669e-08 1.46486e-08 1 1 0 COL22A1 169044 broad.mit.edu 37 8 139833460 139833460 + Silent SNP T T A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr8:139833460T>A ENST00000303045.6 - 7 1610 c.1164A>T c.(1162-1164)ctA>ctT p.L388L COL22A1_ENST00000435777.1_Silent_p.L388L NM_152888.1 NP_690848.1 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 388 TSP N-terminal. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) CCTCGATGGGTAGTGTCTGCA 0.577000 HNSCC(7;0.00092) 12 45 0 0 1 0 0 TRIM62 55223 broad.mit.edu 37 1 33646644 33646644 + Silent SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:33646644G>A ENST00000291416.5 - 1 623 c.390C>T c.(388-390)gaC>gaT p.D130D TRIM62_ENST00000485148.1_5'UTR NM_018207.2 NP_060677.2 Q9BVG3 TRI62_HUMAN tripartite motif containing 62 130 intracellular zinc ion binding endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 Myeloproliferative disorder(586;0.0393) CGTCGAAGGCGTCGTCGATGC 0.701000 10 11 0 0 1 0 0 UQCRB 7381 broad.mit.edu 37 8 97245423 97245423 + Nonsense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr8:97245423G>A ENST00000287022.5 - 2 155 c.52C>T c.(52-54)Cga>Tga p.R18* UQCRB_ENST00000517523.1_5'UTR|UQCRB_ENST00000518406.1_Nonsense_Mutation_p.R18*|UQCRB_ENST00000523920.1_Nonsense_Mutation_p.R18* NM_001199975.2|NM_006294.4 NP_001186904.1|NP_006285.1 P14927 QCR7_HUMAN ubiquinol-cytochrome c reductase binding protein 18 aerobic respiration|mitochondrial electron transport, ubiquinol to cytochrome c mitochondrial respiratory chain ubiquinol-cytochrome-c reductase activity kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 10 Breast(36;5.16e-05) TACCATTTTCGAATACCATCC 0.333000 9 70 0 0 1 0 0 NFASC 23114 broad.mit.edu 37 1 204939850 204939850 + Missense_Mutation SNP G G C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:204939850G>C ENST00000367172.4 + 11 1438 c.1110G>C c.(1108-1110)tgG>tgC p.W370C NFASC_ENST00000403080.1_Missense_Mutation_p.W370C|NFASC_ENST00000401399.1_Missense_Mutation_p.W370C|NFASC_ENST00000539706.1_Missense_Mutation_p.W381C|NFASC_ENST00000339876.6_Missense_Mutation_p.W370C|NFASC_ENST00000360049.4_Missense_Mutation_p.W381C|NFASC_ENST00000338515.6_Missense_Mutation_p.W370C|NFASC_ENST00000367170.4_Missense_Mutation_p.W370C|NFASC_ENST00000367171.4_Missense_Mutation_p.W370C|NFASC_ENST00000513543.1_Missense_Mutation_p.W381C|NFASC_ENST00000367169.4_Missense_Mutation_p.W370C|NFASC_ENST00000404907.1_Missense_Mutation_p.W381C|NFASC_ENST00000338586.6_Missense_Mutation_p.W370C|NFASC_ENST00000404076.1_Missense_Mutation_p.W364C O94856 NFASC_HUMAN neurofascin 370 Ig-like C2-type 4. axon guidance|cell adhesion|myelination|peripheral nervous system development integral to membrane|node of Ranvier|plasma membrane protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 81 all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) CTGTCCAGTGGATGGTGAATG 0.532000 34 76 0 0 1 0 0 CANX 821 broad.mit.edu 37 5 179150667 179150667 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr5:179150667G>A ENST00000247461.4 + 12 1605 c.1405G>A c.(1405-1407)Gtt>Att p.V469I CANX_ENST00000512607.2_Missense_Mutation_p.V361I|CANX_ENST00000415618.2_Missense_Mutation_p.V504I|CANX_ENST00000452673.2_Missense_Mutation_p.V469I|CANX_ENST00000504734.1_Missense_Mutation_p.V469I NM_001746.3 NP_001737.1 P27824 CALX_HUMAN calnexin 469 post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein secretion endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane|melanosome calcium ion binding|sugar binding|unfolded protein binding breast(1)|endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|prostate(2)|urinary_tract(3) 22 all_cancers(89;0.000129)|all_epithelial(37;5.59e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218) all_cancers(40;0.0413)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031) TCAGCCAGGCGTTGTGGGGCA 0.502000 17 69 0 0 1 0 0 HMCN1 83872 broad.mit.edu 37 1 186135399 186135399 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:186135399G>A ENST00000271588.4 + 99 15632 c.15403G>A c.(15403-15405)Ggc>Agc p.G5135S HMCN1_ENST00000367492.2_Missense_Mutation_p.G5135S NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 5135 EGF-like 1; calcium-binding (Potential). 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 CTGCCCTAAAGGCCTCACCAT 0.438000 16 41 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9017386 9017386 + Silent SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:9017386C>A ENST00000397910.4 - 26 38141 c.37938G>T c.(37936-37938)ctG>ctT p.L12646L NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 12648 SEA 4. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TGTAGGGGCCCAGCTCTTTGA 0.557000 28 301 1.13719e-10 1.44271e-10 1 1 0 DENND1C 79958 broad.mit.edu 37 19 6478987 6478987 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:6478987C>T ENST00000381480.2 - 5 369 c.257G>A c.(256-258)cGc>cAc p.R86H DENND1C_ENST00000591030.1_5'UTR|DENND1C_ENST00000543576.1_Missense_Mutation_p.R42H NM_024898.2 NP_079174.2 Q8IV53 DEN1C_HUMAN DENN/MADD domain containing 1C 86 UDENN. clathrin-coated vesicle|cytosol guanyl-nucleotide exchange factor activity endometrium(3)|kidney(3)|large_intestine(1)|lung(3) 10 CGCCCGCAGGCGGCAGAAACC 0.652000 22 102 0 0 1 0 0 TIMP2 7077 broad.mit.edu 37 17 76851807 76851807 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr17:76851807G>A ENST00000262768.7 - 5 903 c.605C>T c.(604-606)gCg>gTg p.A202V TIMP2_ENST00000536189.2_Missense_Mutation_p.A125V|RP11-323N12.5_ENST00000587434.1_RNA|TIMP2_ENST00000585421.1_Missense_Mutation_p.A125V|TIMP2_ENST00000586057.1_Missense_Mutation_p.A125V NM_003255.4 NP_003246.1 P16035 TIMP2_HUMAN TIMP metallopeptidase inhibitor 2 202 metal ion binding|metalloendopeptidase inhibitor activity central_nervous_system(2) 2 BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.194) GCGGTACCACGCACAGGAGCC 0.607000 13 74 0 0 1 0 0 IGKV2D-29 28882 broad.mit.edu 37 2 89986982 89986982 + RNA SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr2:89986982G>T ENST00000491977.1 + 0 293 GATAGGTTCAGTGGCAGCGGG 0.512000 27 51 1.08312e-15 1.51178e-15 1 1 0 ADCY10 55811 broad.mit.edu 37 1 167863109 167863109 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:167863109C>A ENST00000367848.1 - 8 1031 c.534G>T c.(532-534)atG>atT p.M178I ADCY10_ENST00000367851.4_Missense_Mutation_p.M270I|ADCY10_ENST00000545172.1_Missense_Mutation_p.M117I Q96PN6 ADCYA_HUMAN adenylate cyclase 10 (soluble) 270 Guanylate cyclase 1. intracellular signal transduction|spermatogenesis cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction adenylate cyclase activity|ATP binding|magnesium ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1) 63 AAATGCTTTCCATCACATACT 0.428000 17 40 5.35267e-07 6.22074e-07 1 1 0 OVCH1 341350 broad.mit.edu 37 12 29650606 29650606 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr12:29650606G>A ENST00000318184.5 - 1 13 c.14C>T c.(13-15)gCc>gTc p.A5V NM_183378.2 NP_899234.2 Q7RTY7 OVCH1_HUMAN ovochymase 1 5 proteolysis extracellular region metal ion binding|serine-type endopeptidase activity NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3) 92 Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155) ACCAGCACTGGCCAGCAGGCC 0.647000 16 40 0 0 1 0 0 WDR96 80217 broad.mit.edu 37 10 105971912 105971912 + Silent SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr10:105971912C>A ENST00000357060.3 - 5 703 c.588G>T c.(586-588)tcG>tcT p.S196S WDR96_ENST00000369719.1_Silent_p.S126S|WDR96_ENST00000278064.2_Silent_p.S126S|WDR96_ENST00000428666.1_Silent_p.S196S|WDR96_ENST00000369720.1_Silent_p.S126S NM_025145.5 NP_079421.5 Q8NDM7 WDR96_HUMAN WD repeat domain 96 196 NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 72 GTAATTTCACCGACCTGTAGA 0.433000 14 46 1.52009e-12 2.00209e-12 1 1 0 PRKRIP1 79706 broad.mit.edu 37 7 102040058 102040058 + Missense_Mutation SNP A A T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr7:102040058A>T ENST00000496391.1 + 7 1579 c.269A>T c.(268-270)tAt>tTt p.Y90F PRKRIP1_ENST00000397912.3_Missense_Mutation_p.Y90F|PRKRIP1_ENST00000462601.1_Missense_Mutation_p.Y33F|PRKRIP1_ENST00000354783.4_Missense_Mutation_p.Y52F|PRKRIP1_ENST00000482465.1_3'UTR Q9H875 PKRI1_HUMAN PRKR interacting protein 1 (IL11 inducible) 90 Required for RNA-binding (By similarity). nucleolus endometrium(1)|lung(4)|ovary(1) 6 CGGAGAGAATATCAGCGACAG 0.537000 10 100 0 0 1 0 0 KANK4 163782 broad.mit.edu 37 1 62734032 62734032 + Missense_Mutation SNP T T C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:62734032T>C ENST00000371153.4 - 5 2536 c.2158A>G c.(2158-2160)Atc>Gtc p.I720V KANK4_ENST00000371150.1_Missense_Mutation_p.I76V|KANK4_ENST00000354381.3_Missense_Mutation_p.I92V NM_181712.4 NP_859063.3 Q5T7N3 KANK4_HUMAN KN motif and ankyrin repeat domains 4 720 NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2) 81 CCCTCAGGGATGCCCTGCCCA 0.607000 8 44 0 0 1 0 0 TMEM74 157753 broad.mit.edu 37 8 109796744 109796744 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr8:109796744G>T ENST00000297459.3 - 2 762 c.584C>A c.(583-585)tCt>tAt p.S195Y TMEM74_ENST00000518838.1_Intron NM_153015.1 NP_694560.1 Q96NL1 TMM74_HUMAN transmembrane protein 74 195 autophagy autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1) 29 OV - Ovarian serous cystadenocarcinoma(57;3.08e-10) GACGATGTAAGAGATGATCAC 0.557000 19 34 4.63292e-17 6.61888e-17 1 1 0 SEL1L 6400 broad.mit.edu 37 14 81970636 81970636 + Missense_Mutation SNP C C A rs139757904 TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr14:81970636C>A ENST00000336735.4 - 5 639 c.523G>T c.(523-525)Gct>Tct p.A175S SEL1L_ENST00000555824.1_Missense_Mutation_p.A175S NM_005065.5 NP_005056.3 Q9UBV2 SE1L1_HUMAN sel-1 suppressor of lin-12-like (C. elegans) 175 Interaction with ERLEC1, OS9 and SYVN1. Notch signaling pathway endoplasmic reticulum membrane|integral to membrane protein binding breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3) 28 BRCA - Breast invasive adenocarcinoma(234;0.0299) CGTCTCTTAGCAGCCTCTTCT 0.353000 23 67 5.26018e-13 6.96081e-13 1 1 0 MORN1 79906 broad.mit.edu 37 1 2303979 2303979 + Missense_Mutation SNP T T C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:2303979T>C ENST00000378531.3 - 8 859 c.686A>G c.(685-687)cAa>cGa p.Q229R MORN1_ENST00000606372.1_5'UTR|MORN1_ENST00000378529.3_Missense_Mutation_p.Q229R NM_024848.1 NP_079124.1 Q5T089 MORN1_HUMAN MORN repeat containing 1 229 breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(1)|ovary(2) 9 all_cancers(77;0.000194)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634) all_epithelial(116;3.3e-15)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217) Epithelial(90;2.21e-37)|OV - Ovarian serous cystadenocarcinoma(86;5.01e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00137)|BRCA - Breast invasive adenocarcinoma(365;0.00488)|STAD - Stomach adenocarcinoma(132;0.00665)|KIRC - Kidney renal clear cell carcinoma(229;0.0203)|Lung(427;0.212) GGGAGACCCTTGGGCCACTTC 0.562000 5 51 0 0 1 0 0 SORT1 6272 broad.mit.edu 37 1 109869660 109869660 + Missense_Mutation SNP T T C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:109869660T>C ENST00000256637.6 - 13 1655 c.1597A>G c.(1597-1599)Atc>Gtc p.I533V SORT1_ENST00000538502.1_Missense_Mutation_p.I396V NM_002959.5 NP_002950.3 Q99523 SORT_HUMAN sortilin 1 533 endocytosis|endosome to lysosome transport|endosome transport via multivesicular body sorting pathway|glucose import|Golgi to endosome transport|induction of apoptosis by extracellular signals|myotube differentiation|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|neuropeptide signaling pathway|ossification|plasma membrane to endosome transport|regulation of gene expression|response to insulin stimulus|vesicle organization cell surface|coated pit|early endosome|endoplasmic reticulum membrane|endosome membrane|Golgi cisterna membrane|integral to membrane|lysosomal membrane|microsome|nuclear membrane|perinuclear region of cytoplasm|plasma membrane enzyme binding|nerve growth factor binding|nerve growth factor receptor activity|neurotensin receptor activity, non-G-protein coupled NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1) 26 all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244) Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184) GCCACAATGATGCCTCCAGAA 0.488000 38 86 0 0 1 0 0 RPTN 126638 broad.mit.edu 37 1 152129369 152129369 + Missense_Mutation SNP A A T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:152129369A>T ENST00000316073.3 - 3 270 c.206T>A c.(205-207)aTt>aAt p.I69N NM_001122965.1 NP_001116437.1 Q6XPR3 RPTN_HUMAN repetin 69 EF-hand 2.|S-100-like (By similarity). proteinaceous extracellular matrix calcium ion binding breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 59 ATGAAAATCAATATGTCCATC 0.428000 54 90 0 0 1 0 0 MMAA 166785 broad.mit.edu 37 4 146576486 146576486 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr4:146576486G>A ENST00000281317.5 + 7 2367 c.1157G>A c.(1156-1158)cGg>cAg p.R386Q MMAA_ENST00000541599.1_Missense_Mutation_p.R105Q NM_172250.2 NP_758454.1 Q8IVH4 MMAA_HUMAN methylmalonic aciduria (cobalamin deficiency) cblA type 386 mitochondrion GTP binding|nucleoside-triphosphatase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1) 17 all_hematologic(180;0.151) Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) CCCACAGTCCGGGAACAGATT 0.483000 17 87 0 0 1 0 0 FER1L6 654463 broad.mit.edu 37 8 124989824 124989824 + Silent SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr8:124989824C>T ENST00000522917.1 + 10 1244 c.1038C>T c.(1036-1038)atC>atT p.I346I FER1L6_ENST00000399018.1_Silent_p.I346I NM_001039112.2 NP_001034201.2 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 (C. elegans) 346 integral to membrane NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1) 118 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) TGAAGAAAATCTCCAACGAAC 0.468000 17 26 0 0 1 0 0 MYO15A 51168 broad.mit.edu 37 17 18061065 18061065 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr17:18061065G>T ENST00000205890.5 + 51 9156 c.8818G>T c.(8818-8820)Gtg>Ttg p.V2940L MYO15A_ENST00000418233.3_Missense_Mutation_p.V204L NM_016239.3 NP_057323.3 Q9UKN7 MYO15_HUMAN myosin XVA 2940 SH3.|Tail. sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 99 all_neural(463;0.228) CCACGGGCGCGTGGGCCGCTT 0.677000 20 47 2.21704e-12 2.90638e-12 1 1 0 B3GNT7 93010 broad.mit.edu 37 2 232263016 232263016 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr2:232263016G>A ENST00000287590.5 + 2 847 c.586G>A c.(586-588)Gaa>Aaa p.E196K NM_145236.2 NP_660279.1 Q8NFL0 B3GN7_HUMAN UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7 196 protein glycosylation Golgi membrane|integral to membrane galactosyltransferase activity endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1) 17 Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232) Epithelial(121;3.22e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139) GCTGGCCTACGAAGACCGCCT 0.642000 17 65 0 0 1 0 0 KIAA0556 23247 broad.mit.edu 37 16 27689186 27689186 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr16:27689186C>T ENST00000261588.4 + 7 696 c.677C>T c.(676-678)cCc>cTc p.P226L KIAA0556_ENST00000567894.1_3'UTR NM_015202.2 NP_056017.2 O60303 K0556_HUMAN KIAA0556 226 breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 76 GTGGGCCATCCCAGACATGAC 0.552000 7 75 0 0 1 0 0 TEKT4 150483 broad.mit.edu 37 2 95540641 95540641 + Silent SNP C C G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr2:95540641C>G ENST00000295201.4 + 4 971 c.834C>G c.(832-834)tcC>tcG p.S278S AC097374.2_ENST00000568768.1_RNA NM_144705.2 NP_653306.1 Q8WW24 TEKT4_HUMAN tektin 4 278 cell projection organization|microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 28 GCGACACCTCCGAGGACCTGC 0.682000 7 21 0 0 1 0 0 CSHL1 1444 broad.mit.edu 37 17 61987605 61987605 + Missense_Mutation SNP T T A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr17:61987605T>A ENST00000450719.3 - 3 343 c.106A>T c.(106-108)Aac>Tac p.N36Y CSHL1_ENST00000558099.1_5'UTR|CSHL1_ENST00000346606.6_Missense_Mutation_p.N36Y|CSHL1_ENST00000259003.10_Missense_Mutation_p.N68Y|CSHL1_ENST00000438387.2_Missense_Mutation_p.N47Y|CSHL1_ENST00000309894.5_Missense_Mutation_p.N130Y|CSHL1_ENST00000392824.4_3'UTR|CSHL1_ENST00000561003.1_Missense_Mutation_p.N47Y Q14406 CSHL_HUMAN chorionic somatomammotropin hormone-like 1 130 extracellular region hormone activity|metal ion binding endometrium(3)|lung(6) 9 ACCAGGTTGTTGGTGAAGGTA 0.587000 11 84 0 0 1 0 0 SOX6 55553 broad.mit.edu 37 11 16208413 16208413 + Silent SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:16208413C>T ENST00000352083.6 - 5 701 c.624G>A c.(622-624)gcG>gcA p.A208A SOX6_ENST00000396356.3_Silent_p.A208A|SOX6_ENST00000527619.1_Silent_p.A211A|SOX6_ENST00000528252.1_Silent_p.A208A|SOX6_ENST00000316399.6_Silent_p.A208A|SOX6_ENST00000528429.1_Silent_p.A208A P35712 SOX6_HUMAN SRY (sex determining region Y)-box 6 208 muscle organ development nucleus sequence-specific DNA binding transcription factor activity NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2) 43 GTTCATCATGCGCTGCCAGTA 0.502000 66 179 0 0 1 0 0 CRNKL1 51340 broad.mit.edu 37 20 20030018 20030018 + Missense_Mutation SNP C C G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr20:20030018C>G ENST00000377340.2 - 4 776 c.745G>C c.(745-747)Gca>Cca p.A249P CRNKL1_ENST00000536226.1_Missense_Mutation_p.A88P|CRNKL1_ENST00000377327.4_Missense_Mutation_p.A237P NM_001278628.1|NM_016652.4 NP_001265557.1|NP_057736.4 Q9BZJ0 CRNL1_HUMAN crooked neck pre-mRNA splicing factor 1 249 spliceosome assembly catalytic step 2 spliceosome|cytoplasm|nuclear speck RNA binding breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6) 45 TCCCATTGTGCGTATTTTATC 0.313000 8 8 0 0 1 0 0 KRTAP10-12 386685 broad.mit.edu 37 21 46117531 46117531 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr21:46117531C>A ENST00000400365.3 + 1 445 c.415C>A c.(415-417)Cca>Aca p.P139T TSPEAR_ENST00000323084.4_Intron NM_198699.1 NP_941972.1 P60413 KR10C_HUMAN keratin associated protein 10-12 139 19 X 5 AA repeats of C-C-X(3). keratin filament large_intestine(1)|lung(8) 9 TAGCTGCCAGCCAGCTTGCTG 0.612000 67 212 3.09758e-43 4.99488e-43 1 1 0 TRPC4AP 26133 broad.mit.edu 37 20 33591358 33591358 + Missense_Mutation SNP C C T rs140361914 TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr20:33591358C>T ENST00000252015.2 - 18 2200 c.2111G>A c.(2110-2112)cGg>cAg p.R704Q TRPC4AP_ENST00000432634.2_Missense_Mutation_p.R665Q|TRPC4AP_ENST00000451813.1_Missense_Mutation_p.R696Q|TRPC4AP_ENST00000539834.1_Missense_Mutation_p.R306Q Q8TEL6 TP4AP_HUMAN transient receptor potential cation channel, subfamily C, member 4 associated protein 704 protein ubiquitination|ubiquitin-dependent protein catabolic process Cul4A-RING ubiquitin ligase complex protein binding breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1) 32 BRCA - Breast invasive adenocarcinoma(18;0.00936) CAGGGGCAGCCGCTCTTTCCG 0.637000 8 53 0 0 1 0 0 CEBPB 1051 broad.mit.edu 37 20 48808467 48808467 + Silent SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr20:48808467G>A ENST00000303004.3 + 1 1092 c.897G>A c.(895-897)acG>acA p.T299T NM_005194.3 NP_005185.2 P17676 CEBPB_HUMAN CCAAT/enhancer binding protein (C/EBP), beta 299 acute-phase response|immune response sequence-specific enhancer binding RNA polymerase II transcription factor activity NS(1)|lung(1) 2 BRCA - Breast invasive adenocarcinoma(9;5.72e-08)|STAD - Stomach adenocarcinoma(23;0.19) ACCTGGAGACGCAGCACAAGG 0.632000 15 16 0 0 1 0 0 FAM47A 158724 broad.mit.edu 37 X 34150221 34150221 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chrX:34150221G>A ENST00000346193.3 - 1 226 c.175C>T c.(175-177)Cgc>Tgc p.R59C NM_203408.3 NP_981953.2 Q5JRC9 FA47A_HUMAN family with sequence similarity 47, member A 59 NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 97 CAGCCGTAGCGGAAGTCGTCC 0.557000 22 84 0 0 1 0 0 PTPRN2 5799 broad.mit.edu 37 7 157926752 157926752 + Splice_Site SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr7:157926752C>A ENST00000389413.3 - 9 1277 c.e9-1 PTPRN2_ENST00000409483.1_Splice_Site|PTPRN2_ENST00000389416.4_Splice_Site|PTPRN2_ENST00000404321.2_Splice_Site|PTPRN2_ENST00000389418.4_Splice_Site NM_130843.2 NP_570858.2 Q92932 PTPR2_HUMAN protein tyrosine phosphatase, receptor type, N polypeptide 2 integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 86 all_neural(206;0.181) all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132) OV - Ovarian serous cystadenocarcinoma(82;0.00463) STAD - Stomach adenocarcinoma(7;0.0875) GACGATGGACCTGACAGAGAG 0.597000 28 34 3.73148e-12 4.88029e-12 1 1 0 ALDH1L1 10840 broad.mit.edu 37 3 125828808 125828808 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr3:125828808C>A ENST00000393434.2 - 20 2675 c.2326G>T c.(2326-2328)Ggg>Tgg p.G776W ALDH1L1_ENST00000452905.2_Missense_Mutation_p.G675W|ALDH1L1_ENST00000472186.1_Missense_Mutation_p.G776W|ALDH1L1_ENST00000393431.2_3'UTR|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.G786W NM_012190.3 NP_036322.2 O75891 AL1L1_HUMAN aldehyde dehydrogenase 1 family, member L1 776 Aldehyde dehydrogenase. 10-formyltetrahydrofolate catabolic process|biosynthetic process acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 52 GBM - Glioblastoma multiforme(114;0.0462) Tetrahydrofolic acid(DB00116) ACCTGATTCCCGCCGCAGACC 0.617000 4 38 0.00909568 0.00937143 1 1 0 AMER1 139285 broad.mit.edu 37 X 63410468 63410468 + Missense_Mutation SNP T T A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chrX:63410468T>A ENST00000330258.3 - 2 2971 c.2699A>T c.(2698-2700)gAg>gTg p.E900V AMER1_ENST00000403336.1_Intron|AMER1_ENST00000374869.3_Intron NM_152424.3 NP_689637.3 APC membrane recruitment protein 1 p.0?(67) CTCCAGGGTCTCTGCAGTGTC 0.597000 8 47 0 0 1 0 0 PRRC2B 84726 broad.mit.edu 37 9 134360138 134360138 + Silent SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr9:134360138C>T ENST00000357304.4 + 23 5581 c.5526C>T c.(5524-5526)ctC>ctT p.L1842L PRRC2B_ENST00000405995.1_Silent_p.L1148L|PRRC2B_ENST00000458550.1_Silent_p.L1148L|PRRC2B_ENST00000372249.1_5'UTR NM_013318.3 NP_037450.2 Q5JSZ5 PRC2B_HUMAN proline-rich coiled-coil 2B 1842 protein binding cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2) 44 CCATCGGTCTCTCCCCAATGT 0.567000 44 71 0 0 1 0 0 PPP1R36 145376 broad.mit.edu 37 14 65019538 65019538 + Silent SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr14:65019538C>T ENST00000298705.1 + 3 237 c.141C>T c.(139-141)gcC>gcT p.A47A RP11-973N13.3_ENST00000556634.1_RNA|RP11-973N13.3_ENST00000554454.1_RNA NM_172365.1 NP_758953.1 Q96LQ0 CN050_HUMAN protein phosphatase 1, regulatory subunit 36 47 TCAGGTTTGCCGCAGAAGATT 0.383000 12 47 0 0 1 0 0 TCHH 7062 broad.mit.edu 37 1 152082760 152082760 + Missense_Mutation SNP G G C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:152082760G>C ENST00000368804.1 - 2 2932 c.2933C>G c.(2932-2934)cCg>cGg p.P978R NM_007113.2 NP_009044.2 Q07283 TRHY_HUMAN trichohyalin 978 10 X 30 AA tandem repeats. keratinization cytoskeleton calcium ion binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4) 105 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) tctcttctccggttcctctcc 0.557000 61 233 0 0 1 0 0 VPS41 27072 broad.mit.edu 37 7 38908748 38908748 + Missense_Mutation SNP T T G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr7:38908748T>G ENST00000310301.4 - 3 220 c.166A>C c.(166-168)Aag>Cag p.K56Q VPS41_ENST00000395969.2_Missense_Mutation_p.K56Q NM_014396.3 NP_055211.2 P49754 VPS41_HUMAN vacuolar protein sorting 41 homolog (S. cerevisiae) 56 Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction zinc ion binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4) 44 TATCTTACCTTGTCATGGACT 0.418000 12 155 0 0 1 0 0 ANKRD32 84250 broad.mit.edu 37 5 94024355 94024355 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr5:94024355G>A ENST00000265140.5 + 17 2685 c.2266G>A c.(2266-2268)Gaa>Aaa p.E756K NM_032290.3 NP_115666.2 Q9BQI6 ANR32_HUMAN ankyrin repeat domain 32 756 NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1) 13 all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152) all cancers(79;3.88e-18) AAAACAAGTCGAAGGGCTGCC 0.413000 14 49 0 0 1 0 0 SPTA1 6708 broad.mit.edu 37 1 158585167 158585167 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:158585167C>T ENST00000368148.3 - 48 6807 c.6627G>A c.(6625-6627)atG>atA p.M2209I SPTA1_ENST00000368147.3_Missense_Mutation_p.M2206I NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 2209 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) GTTGACGCTTCATCGCCTGGA 0.483000 65 165 0 0 1 0 0 SAMD5 389432 broad.mit.edu 37 6 147830241 147830241 + Silent SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr6:147830241G>A ENST00000367474.1 + 1 179 c.177G>A c.(175-177)gtG>gtA p.V59V NM_001030060.2 NP_001025231.1 Q5TGI4 SAMD5_HUMAN sterile alpha motif domain containing 5 59 SAM. Ovarian(120;0.0907) OV - Ovarian serous cystadenocarcinoma(155;9.55e-10)|GBM - Glioblastoma multiforme(68;0.112) TGGAGGCCGTGCGCCGGCTGC 0.756000 8 6 0 0 1 0 0 MMP13 4322 broad.mit.edu 37 11 102826374 102826374 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:102826374G>A ENST00000260302.3 - 1 89 c.61C>T c.(61-63)Ccc>Tcc p.P21S MMP13_ENST00000340273.4_Missense_Mutation_p.P21S NM_002427.3 NP_002418.1 P45452 MMP13_HUMAN matrix metallopeptidase 13 (collagenase 3) 21 collagen catabolic process|proteolysis extracellular space metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1) 27 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.0144) CTGGGAAGGGGCAGGGCCCGA 0.532000 15 80 0 0 1 0 0 C11orf30 56946 broad.mit.edu 37 11 76183703 76183703 + Silent SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:76183703G>A ENST00000529032.1 + 7 927 c.927G>A c.(925-927)acG>acA p.T309T C11orf30_ENST00000525038.1_Silent_p.T324T|C11orf30_ENST00000524767.1_Silent_p.T324T|C11orf30_ENST00000533248.1_Silent_p.T323T|C11orf30_ENST00000524490.1_Silent_p.T310T|C11orf30_ENST00000334736.3_Silent_p.T309T|C11orf30_ENST00000525919.1_Silent_p.T310T|C11orf30_ENST00000343878.3_Silent_p.T309T Q7Z589 EMSY_HUMAN chromosome 11 open reading frame 30 309 Interaction with BRCA2. chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2) 60 TTGTACCAACGTCAGTCATTG 0.463000 17 108 0 0 1 0 0 KRBOX4 55634 broad.mit.edu 37 X 46332310 46332310 + Nonsense_Mutation SNP A A T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chrX:46332310A>T ENST00000344302.4 + 6 1010 c.379A>T c.(379-381)Aga>Tga p.R127* KRBOX4_ENST00000478600.1_Intron|KRBOX4_ENST00000487081.1_3'UTR|KRBOX4_ENST00000360017.5_3'UTR|KRBOX4_ENST00000298190.6_Nonsense_Mutation_p.R122* NM_001129898.1|NM_017776.2 NP_001123370.1|NP_060246.2 KRAB box domain containing 4 CAGAACATGTAGAAAAAGCAT 0.383000 16 48 0 0 1 0 0 PDE4A 5141 broad.mit.edu 37 19 10528391 10528391 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:10528391G>A ENST00000380702.2 + 2 104 c.104G>A c.(103-105)cGt>cAt p.R35H PDE4A_ENST00000592685.1_Missense_Mutation_p.R35H P27815 PDE4A_HUMAN phosphodiesterase 4A, cAMP-specific 0 signal transduction cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 27 OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06) Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277) GCCGACCTGCGTCGCCCTCGC 0.726000 OREG0025236 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 16 0 0 1 0 0 PNMAL1 55228 broad.mit.edu 37 19 46973326 46973326 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:46973326G>A ENST00000313683.10 - 2 1272 c.967C>T c.(967-969)Cgg>Tgg p.R323W PNMAL1_ENST00000602246.1_Intron|PNMAL1_ENST00000438932.2_Missense_Mutation_p.R323W NM_001103149.1|NM_018215.3 NP_001096619.1|NP_060685.2 Q86V59 PNML1_HUMAN paraneoplastic Ma antigen family-like 1 323 cervix(1)|endometrium(2)|large_intestine(8)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 Ovarian(192;0.00965)|all_neural(266;0.0459) OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427) GCTTCTGCCCGGGCATCCTGA 0.597000 36 197 0 0 1 0 0 AKAP9 10142 broad.mit.edu 37 7 91709255 91709255 + Missense_Mutation SNP C C G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr7:91709255C>G ENST00000359028.2 + 32 8069 c.7844C>G c.(7843-7845)gCa>gGa p.A2615G AKAP9_ENST00000358100.2_Missense_Mutation_p.A2615G|AKAP9_ENST00000356239.3_Missense_Mutation_p.A2603G Q99996 AKAP9_HUMAN A kinase (PRKA) anchor protein 9 2615 Glu-rich. G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2) 155 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) GATATATCAGCATTAACCTTG 0.299000 T BRAF papillary thyroid 10 60 0 0 1 0 0 GNL1 2794 broad.mit.edu 37 6 30522381 30522381 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr6:30522381C>T ENST00000376621.3 - 5 1541 c.571G>A c.(571-573)Gtc>Atc p.V191I NM_005275.3 NP_005266.2 P36915 GNL1_HUMAN guanine nucleotide binding protein-like 1 191 response to DNA damage stimulus|signal transduction|T cell mediated immunity extracellular space|intracellular GTP binding|structural molecule activity cervix(2)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 25 ATAAGCAGGACGATGTCAGAC 0.507000 10 55 0 0 1 0 0 OSBP 5007 broad.mit.edu 37 11 59361694 59361694 + Missense_Mutation SNP C C T rs34069056 TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:59361694C>T ENST00000263847.1 - 8 1825 c.1346G>A c.(1345-1347)cGc>cAc p.R449H NM_002556.2 NP_002547.1 P22059 OSBP1_HUMAN oxysterol binding protein 449 Sterol binding (By similarity). lipid transport Golgi membrane oxysterol binding NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 26 all_epithelial(135;0.000236) BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207) TTCAGTAAGGCGCTGAAGCAT 0.398000 13 51 0 0 1 0 0 DSTYK 25778 broad.mit.edu 37 1 205132893 205132893 + Silent SNP A A G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:205132893A>G ENST00000367162.3 - 4 1545 c.1515T>C c.(1513-1515)tcT>tcC p.S505S DSTYK_ENST00000367161.3_Silent_p.S505S|DSTYK_ENST00000367160.4_Intron NM_015375.2 NP_056190.1 Q6XUX3 DUSTY_HUMAN dual serine/threonine and tyrosine protein kinase 505 cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2) 14 AGACATCCTGAGACTTCTCCA 0.433000 10 27 0 0 1 0 0 ATP7A 538 broad.mit.edu 37 X 77284778 77284778 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chrX:77284778C>T ENST00000341514.6 + 15 3103 c.2948C>T c.(2947-2949)aCg>aTg p.T983M ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000343533.5_Missense_Mutation_p.T905M NM_000052.5 NP_000043.3 Q04656 ATP7A_HUMAN ATPase, Cu++ transporting, alpha polypeptide 983 ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1) 53 CGAACAGAAACGATAATACGA 0.403000 24 141 0 0 1 0 0 KMT2A 4297 broad.mit.edu 37 11 118370028 118370028 + Missense_Mutation SNP A A G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:118370028A>G ENST00000534358.1 + 23 5995 c.5972A>G c.(5971-5973)gAg>gGg p.E1991G KMT2A_ENST00000354520.4_Missense_Mutation_p.E1950G|KMT2A_ENST00000389506.5_Missense_Mutation_p.E1988G NM_001197104.1|NM_005933.3 NP_001184033.1|NP_005924.2 lysine (K)-specific methyltransferase 2A GTGGTTCCTGAGAATGGATTT 0.408000 25 189 0 0 1 0 0 CHD8 57680 broad.mit.edu 37 14 21897350 21897350 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr14:21897350C>A ENST00000399982.2 - 2 1052 c.988G>T c.(988-990)Gcc>Tcc p.A330S CHD8_ENST00000557364.1_Missense_Mutation_p.A330S|CHD8_ENST00000555962.1_Intron|CHD8_ENST00000430710.3_Missense_Mutation_p.A51S NM_001170629.1 NP_001164100.1 Q9HCK8 CHD8_HUMAN chromodomain helicase DNA binding protein 8 330 Gln-rich. ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent MLL1 complex ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 85 all_cancers(95;0.00121) Epithelial(56;2.55e-06)|all cancers(55;1.73e-05) GBM - Glioblastoma multiforme(265;0.00424) TGCCCTTGGGCATTCTTGGCT 0.547000 17 50 1.99824e-07 2.35278e-07 1 1 0 DDX10 1662 broad.mit.edu 37 11 108593863 108593863 + Nonsense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:108593863G>T ENST00000526794.1 + 13 1671 c.1639G>T c.(1639-1641)Gaa>Taa p.E547* DDX10_ENST00000322536.3_Nonsense_Mutation_p.E547* Q13206 DDX10_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 10 547 ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity p.E547*(1) breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2) 27 all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729) BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133) CGAAGTGGAAGAATTTAGAGC 0.433000 T NUP98 AML* 15 41 4.7546e-09 5.78967e-09 1 1 0 MUC16 94025 broad.mit.edu 37 19 9089510 9089510 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:9089510C>T ENST00000397910.4 - 1 2508 c.2305G>A c.(2305-2307)Gtt>Att p.V769I NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 769 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GAGGAAAGAACGGCTGAGCTG 0.488000 52 130 0 0 1 0 0 KLHL34 257240 broad.mit.edu 37 X 21674705 21674705 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chrX:21674705C>T ENST00000379499.2 - 1 1743 c.1202G>A c.(1201-1203)cGc>cAc p.R401H NM_153270.1 NP_695002.1 Q8N239 KLH34_HUMAN kelch-like family member 34 401 cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1) 26 AGCGTGGAAGCGCGGGTCGTA 0.711000 4 12 0 0 1 0 0 TNK2 10188 broad.mit.edu 37 3 195594628 195594628 + Silent SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr3:195594628C>A ENST00000333602.6 - 12 3113 c.2496G>T c.(2494-2496)gtG>gtT p.V832V TNK2_ENST00000381916.2_Silent_p.V910V|TNK2_ENST00000428187.1_Silent_p.V864V|TNK2_ENST00000392400.1_Silent_p.V832V NM_005781.4 NP_005772.3 Q07912 ACK1_HUMAN tyrosine kinase, non-receptor, 2 832 EBD domain (By similarity).|Pro-rich. Missing (in Ref. 4; AAH08884). positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction adherens junction|cytoplasmic vesicle membrane|endosome|nucleus ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1) 29 all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;0.000757) Adenosine triphosphate(DB00171) GGGCCTGGATCACCTGGGGGG 0.667000 14 20 1.05317e-09 1.30512e-09 1 1 0 KIAA1257 57501 broad.mit.edu 37 3 128711997 128711997 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr3:128711997G>A ENST00000265068.5 - 2 318 c.151C>T c.(151-153)Ccg>Tcg p.P51S KIAA1257_ENST00000511438.1_Missense_Mutation_p.P51S|KIAA1257_ENST00000510149.1_Intron NM_020741.2 NP_065792.1 Q9ULG3 K1257_HUMAN KIAA1257 51 breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2) 14 CTGCTGCACGGGCGGTCAGAG 0.602000 36 85 0 0 1 0 0 ZNF676 163223 broad.mit.edu 37 19 22362815 22362815 + Silent SNP T T C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:22362815T>C ENST00000397121.2 - 3 2021 c.1704A>G c.(1702-1704)aaA>aaG p.K568K NM_001001411.2 NP_001001411.2 Q8N7Q3 ZN676_HUMAN zinc finger protein 676 568 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 67 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114) ACTTAAAAGCTTTGCCACATT 0.383000 19 57 0 0 1 0 0 NR4A3 8013 broad.mit.edu 37 9 102609889 102609889 + Missense_Mutation SNP T T G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr9:102609889T>G ENST00000330847.1 + 6 1702 c.1658T>G c.(1657-1659)aTg>aGg p.M553R NR4A3_ENST00000395097.2_Missense_Mutation_p.M542R Q92570 NR4A3_HUMAN nuclear receptor subfamily 4, group A, member 3 542 regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2) Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189) GCACTGAGCATGATCACAGGT 0.473000 T EWSR1 extraskeletal myxoid chondrosarcoma 22 46 0 0 1 0 0 CENPJ 55835 broad.mit.edu 37 13 25457509 25457509 + Splice_Site SNP T T A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr13:25457509T>A ENST00000381884.4 - 17 4010 c.e17-2 CENPJ_ENST00000545981.1_Splice_Site NM_018451.4 NP_060921.3 Q9HC77 CENPJ_HUMAN centromere protein J cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization centriole|cytosol|gamma-tubulin small complex|microtubule protein domain specific binding|tubulin binding endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139) TTGCCATCACTGtaaaattta 0.328000 12 49 0 0 1 0 0 ZHX2 22882 broad.mit.edu 37 8 123965245 123965245 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr8:123965245G>A ENST00000314393.4 + 3 2330 c.1495G>A c.(1495-1497)Gtc>Atc p.V499I NM_014943.3 NP_055758.1 Q9Y6X8 ZHX2_HUMAN zinc fingers and homeoboxes 2 499 cytoplasm|nucleus|plasma membrane protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.V499I(1) breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1) 45 Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105) STAD - Stomach adenocarcinoma(47;0.00527) AAGGGGCATCGTCCACATCAC 0.587000 5 52 0 0 1 0 0 OR4C15 81309 broad.mit.edu 37 11 55321907 55321907 + Missense_Mutation SNP T T A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:55321907T>A ENST00000314644.2 + 1 125 c.125T>A c.(124-126)aTg>aAg p.M42K NM_001001920.1 NP_001001920.1 Q8NGM1 OR4CF_HUMAN olfactory receptor, family 4, subfamily C, member 15 0 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5) 56 AGACTATACATGATCCCTGTT 0.373000 HNSCC(20;0.049) 35 82 0 0 1 0 0 C1GALT1C1 29071 broad.mit.edu 37 X 119761028 119761028 + Splice_Site SNP T T A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chrX:119761028T>A ENST00000304661.5 - 2 234 c.e2-2 C1GALT1C1_ENST00000371313.2_Splice_Site NM_001011551.2 NP_001011551.1 Q96EU7 C1GLC_HUMAN C1GALT1-specific chaperone 1 integral to membrane breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1) 11 GCATTTTTCCTATAAAGAAGA 0.308000 9 37 0 0 1 0 0 DIP2C 22982 broad.mit.edu 37 10 408511 408511 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr10:408511C>A ENST00000280886.6 - 22 2800 c.2713G>T c.(2713-2715)Ggc>Tgc p.G905C DIP2C_ENST00000381496.3_3'UTR|DIP2C_ENST00000540204.1_Missense_Mutation_p.G226C NM_014974.2 NP_055789.1 Q9Y2E4 DIP2C_HUMAN DIP2 disco-interacting protein 2 homolog C (Drosophila) 905 nucleus catalytic activity|transcription factor binding breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4) 81 all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235) OV - Ovarian serous cystadenocarcinoma(33;0.136) Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106) TGCAGAGAGCCCTCCAGAAAA 0.537000 25 64 5.35356e-11 6.83829e-11 1 1 0 CRABP1 1381 broad.mit.edu 37 15 78635881 78635881 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr15:78635881C>T ENST00000299529.6 + 3 395 c.290C>T c.(289-291)aCg>aTg p.T97M NM_004378.2 NP_004369.1 P29762 RABP1_HUMAN cellular retinoic acid binding protein 1 97 multicellular organismal development|signal transduction cytoplasm retinal binding|retinol binding|transporter activity breast(1)|lung(4)|skin(1) 6 Alitretinoin(DB00523)|Etretinate(DB00926) ATCCACTGCACGCAAACTCTT 0.507000 10 27 0 0 1 0 0 LOC645166 645166 broad.mit.edu 37 1 148932865 148932865 + RNA SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:148932865G>T ENST00000539543.1 + 0 121 NR_027355.1 ACCAAGAGTTGGTGGGAGACG 0.627000 12 280 7.03913e-09 8.50688e-09 1 1 0 SCARA3 51435 broad.mit.edu 37 8 27516182 27516182 + Silent SNP A A G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr8:27516182A>G ENST00000301904.3 + 5 515 c.495A>G c.(493-495)agA>agG p.R165R SCARA3_ENST00000337221.4_Silent_p.R165R NM_016240.2 NP_057324.2 Q6AZY7 SCAR3_HUMAN scavenger receptor class A, member 3 165 response to oxidative stress|UV protection collagen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane scavenger receptor activity breast(1)|large_intestine(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 9 Ovarian(32;2.61e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Colorectal(74;0.148) CCACCAGCAGACAAATCTCCC 0.607000 5 65 0 0 1 0 0 ZFYVE27 118813 broad.mit.edu 37 10 99504558 99504558 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr10:99504558G>T ENST00000393677.4 + 4 545 c.341G>T c.(340-342)cGg>cTg p.R114L ZFYVE27_ENST00000370610.3_Missense_Mutation_p.R16L|ZFYVE27_ENST00000370613.3_Intron|ZFYVE27_ENST00000356257.4_Missense_Mutation_p.R114L|ZFYVE27_ENST00000453958.2_Missense_Mutation_p.R114L|ZFYVE27_ENST00000357540.4_Intron|ZFYVE27_ENST00000337540.7_Missense_Mutation_p.R82L|ZFYVE27_ENST00000359980.3_Missense_Mutation_p.R114L NM_144588.6 NP_653189.3 Q5T4F4 ZFY27_HUMAN zinc finger, FYVE domain containing 27 114 cell death|nerve growth factor receptor signaling pathway|neuron projection development|protein localization in plasma membrane axon|dendrite|endoplasmic reticulum membrane|growth cone membrane|integral to membrane|recycling endosome membrane metal ion binding|protein binding p.R114Q(1) endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1) 8 Colorectal(252;0.0846) Epithelial(162;7.08e-10)|all cancers(201;5.18e-08) GAGGTTTGCCGGGCACGGCTG 0.592000 15 30 2.48551e-13 3.3145e-13 1 1 0 GRM5 2915 broad.mit.edu 37 11 88717902 88717902 + Missense_Mutation SNP A A G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:88717902A>G ENST00000393294.3 - 4 1235 c.866T>C c.(865-867)aTa>aCa p.I289T GRM5_ENST00000418177.2_Intron|GRM5_ENST00000393297.1_Intron|GRM5_ENST00000305432.5_Intron|GRM5_ENST00000455756.2_Intron|GRM5_ENST00000305447.4_Intron P41594 GRM5_HUMAN glutamate receptor, metabotropic 5 0 activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 90 Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834) Acamprosate(DB00659) TATTAAAGCTATAGGAGAAAG 0.299000 3 2 0 0 1 0 0 DCTD 1635 broad.mit.edu 37 4 183836692 183836692 + Silent SNP G G A rs139764618 TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr4:183836692G>A ENST00000438320.2 - 2 320 c.30C>T c.(28-30)gaC>gaT p.D10D DCTD_ENST00000357067.3_Silent_p.D21D|DCTD_ENST00000513383.1_5'UTR|DCTD_ENST00000510370.1_Silent_p.D10D NM_001921.2 NP_001912.2 P32321 DCTD_HUMAN dCMP deaminase 10 nucleotide biosynthetic process|pyrimidine base metabolic process|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide metabolic process cytosol dCMP deaminase activity|zinc ion binding endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|urinary_tract(1) 18 all_lung(41;5.16e-14)|Lung NSC(41;1.33e-13)|Colorectal(36;0.00666)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.202) all cancers(43;1.65e-24)|Epithelial(43;3.44e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.39e-10)|Colorectal(24;4.69e-07)|COAD - Colon adenocarcinoma(29;7.07e-05)|STAD - Stomach adenocarcinoma(60;0.000118)|GBM - Glioblastoma multiforme(59;0.000472)|LUSC - Lung squamous cell carcinoma(40;0.00984)|READ - Rectum adenocarcinoma(43;0.0419) CCAAATAGTCGTCCCGTTTCT 0.403000 24 88 0 0 1 0 0 MYLK 4638 broad.mit.edu 37 3 123419193 123419193 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr3:123419193G>A ENST00000360772.3 - 19 3500 c.3122C>T c.(3121-3123)gCc>gTc p.A1041V MYLK_ENST00000359169.1_Missense_Mutation_p.A1041V|MYLK_ENST00000475616.1_Missense_Mutation_p.A1041V|MYLK_ENST00000360304.3_Missense_Mutation_p.A1041V|MYLK_ENST00000346322.5_Missense_Mutation_p.A972V Q15746 MYLK_HUMAN myosin light chain kinase 1041 6 X 12 AA approximate tandem repeats. aorta smooth muscle tissue morphogenesis|muscle contraction cytosol actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 113 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) GGCAGGCTTGGCGTTGCCCAT 0.552000 39 225 0 0 1 0 0 KIF20A 10112 broad.mit.edu 37 5 137520331 137520331 + Missense_Mutation SNP A A C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr5:137520331A>C ENST00000394894.3 + 13 1875 c.1649A>C c.(1648-1650)gAa>gCa p.E550A KIF20A_ENST00000508792.1_Missense_Mutation_p.E532A NM_005733.2 NP_005724.1 O95235 KI20A_HUMAN kinesin family member 20A 550 cytokinesis|M phase of mitotic cell cycle|microtubule-based movement|protein transport|vesicle-mediated transport Golgi apparatus|microtubule|nucleoplasm ATP binding|microtubule motor activity|protein binding|transporter activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|liver(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(1) 27 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) GATGATATTGAAAATGAAGCT 0.448000 17 61 0 0 1 0 0 SYP 6855 broad.mit.edu 37 X 49047930 49047930 + Silent SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chrX:49047930C>T ENST00000263233.4 - 6 978 c.906G>A c.(904-906)ccG>ccA p.P302P SYP_ENST00000479808.1_Silent_p.P302P|SYP_ENST00000538567.1_Silent_p.P184P NM_003179.2 NP_003170.1 P08247 SYPH_HUMAN synaptophysin 302 Repeats, Gly-rich. regulation of long-term neuronal synaptic plasticity|regulation of short-term neuronal synaptic plasticity|synaptic vesicle maturation|synaptic vesicle membrane organization cell junction|integral to synaptic vesicle membrane|synaptosome calcium ion binding|cholesterol binding|transporter activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1) 15 all_lung(315;0.00016) GTGCACCCTGCGGGCCGTAGC 0.657000 6 22 0 0 1 0 0 THEMIS2 9473 broad.mit.edu 37 1 28203187 28203187 + Silent SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:28203187C>A ENST00000373921.3 + 2 187 c.183C>A c.(181-183)gtC>gtA p.V61V THEMIS2_ENST00000373925.1_Silent_p.V61V|THEMIS2_ENST00000328928.7_Silent_p.V61V|THEMIS2_ENST00000373927.3_Silent_p.V61V NM_001105556.1 NP_001099026.1 thymocyte selection associated family member 2 AGAAGGTGGTCTGTGAGAACC 0.617000 30 62 5.60225e-13 7.40474e-13 1 1 0 MAMLD1 10046 broad.mit.edu 37 X 149638355 149638355 + Silent SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chrX:149638355G>T ENST00000370401.2 + 4 820 c.510G>T c.(508-510)ccG>ccT p.P170P MAMLD1_ENST00000262858.5_Silent_p.P170P|MAMLD1_ENST00000468306.1_3'UTR|MAMLD1_ENST00000432680.2_Silent_p.P145P|MAMLD1_ENST00000426613.2_Silent_p.P145P Q13495 MAMD1_HUMAN mastermind-like domain containing 1 170 male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2) 37 Acute lymphoblastic leukemia(192;6.56e-05) ACAGCGTGCCGGCTGTAGACC 0.488000 14 84 1.3612e-06 1.56654e-06 1 1 0 MKNK2 2872 broad.mit.edu 37 19 2039645 2039645 + Silent SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:2039645C>T ENST00000250896.3 - 14 1609 c.1365G>A c.(1363-1365)tcG>tcA p.S455S MKNK2_ENST00000309340.7_Intron|MKNK2_ENST00000591601.1_Silent_p.S455S|MKNK2_ENST00000591142.1_Intron|MKNK2_ENST00000541165.1_Silent_p.S324S NM_199054.2 NP_951009.1 Q9HBH9 MKNK2_HUMAN MAP kinase interacting serine/threonine kinase 2 455 cell surface receptor linked signaling pathway|intracellular protein kinase cascade|regulation of translation ATP binding|metal ion binding|protein serine/threonine kinase activity breast(1)|kidney(3)|large_intestine(3)|lung(3) 10 Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CCACTGGGGCCGAGGACAGAC 0.622000 4 34 0 0 1 0 0 BRI3BP 140707 broad.mit.edu 37 12 125509758 125509758 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr12:125509758G>A ENST00000341446.8 + 3 629 c.538G>A c.(538-540)Gag>Aag p.E180K NM_080626.5 NP_542193.3 Q8WY22 BRI3B_HUMAN BRI3 binding protein 180 integral to membrane|mitochondrial outer membrane large_intestine(1)|lung(8)|ovary(1) 10 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;7.35e-05)|Epithelial(86;0.000426)|all cancers(50;0.00576) GTACGAGGGCGAGCCGGAGAA 0.627000 17 65 0 0 1 0 0 GPR26 2849 broad.mit.edu 37 10 125426339 125426339 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr10:125426339C>A ENST00000284674.1 + 1 469 c.416C>A c.(415-417)gCc>gAc p.A139D NM_153442.3 NP_703143.1 Q8NDV2 GPR26_HUMAN G protein-coupled receptor 26 139 activation of adenylate cyclase activity by G-protein signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|upper_aerodigestive_tract(1) 20 Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226) ACCTTCCCAGCCGCCGCGCTC 0.716000 5 14 0.014758 0.0151151 1 1 0 MED14 9282 broad.mit.edu 37 X 40534478 40534478 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chrX:40534478G>T ENST00000324817.1 - 22 3134 c.3016C>A c.(3016-3018)Caa>Aaa p.Q1006K MED14_ENST00000496531.1_5'UTR NM_004229.3 NP_004220.2 O60244 MED14_HUMAN mediator complex subunit 14 1006 Pro-rich. androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 ATTACCTGTTGCTGGGGTGGT 0.438000 12 83 9.05144e-12 1.17695e-11 1 1 0 NGDN 25983 broad.mit.edu 37 14 23944786 23944786 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr14:23944786C>T ENST00000397154.3 + 5 315 c.302C>T c.(301-303)cCc>cTc p.P101L NGDN_ENST00000408901.3_Missense_Mutation_p.P101L Q8NEJ9 NGDN_HUMAN neuroguidin, EIF4E binding protein 101 Necessary for interaction with EIF4E (By similarity). regulation of translation axon|cytoplasm|dendrite|filopodium|nucleus NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1) 12 all_cancers(95;0.000251) GBM - Glioblastoma multiforme(265;0.00654) AAGCTTCGTCCCTTGGACCAA 0.438000 27 72 0 0 1 0 0 PPIL4 85313 broad.mit.edu 37 6 149854650 149854650 + Missense_Mutation SNP C C G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr6:149854650C>G ENST00000253329.2 - 7 654 c.622G>C c.(622-624)Gta>Cta p.V208L NM_139126.3 NP_624311.1 Q8WUA2 PPIL4_HUMAN peptidylprolyl isomerase (cyclophilin)-like 4 208 protein folding nucleus nucleotide binding|peptidyl-prolyl cis-trans isomerase activity|RNA binding endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1) 13 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;1.11e-11)|GBM - Glioblastoma multiforme(68;0.0885) ATTTCTTCTACTTCCTCAGCT 0.318000 17 20 0 0 1 0 0 DDX26B 203522 broad.mit.edu 37 X 134680705 134680705 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chrX:134680705G>A ENST00000370752.4 + 5 842 c.508G>A c.(508-510)Gcc>Acc p.A170T DDX26B_ENST00000493637.1_3'UTR NM_182540.4 NP_872346.3 Q5JSJ4 DX26B_HUMAN DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B 170 VWFA. large_intestine(1)|lung(8) 9 Acute lymphoblastic leukemia(192;6.56e-05) AAGGTTATTTGCCCTGGTGTT 0.468000 44 83 0 0 1 0 0 NR5A1 2516 broad.mit.edu 37 9 127262440 127262440 + Nonsense_Mutation SNP T T A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr9:127262440T>A ENST00000373588.4 - 4 995 c.799A>T c.(799-801)Aga>Tga p.R267* NM_004959.4 NP_004950.2 Q13285 STF1_HUMAN nuclear receptor subfamily 5, group A, member 1 267 Important for dimerization.|Ligand-binding. cell-cell signaling|male gonad development|positive regulation of transcription from RNA polymerase II promoter|primary sex determination|regulation of steroid biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm enzyme binding|phospholipid binding|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding lung(1)|upper_aerodigestive_tract(1) 2 TCGGCCATTCTGCACAGGAGG 0.682000 25 33 0 0 1 0 0 POU2F3 25833 broad.mit.edu 37 11 120178191 120178191 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:120178191C>A ENST00000260264.4 + 9 813 c.779C>A c.(778-780)tCc>tAc p.S260Y POU2F3_ENST00000543440.2_Missense_Mutation_p.S258Y NM_001244682.1 NP_001231611.1 Q9UKI9 PO2F3_HUMAN POU class 2 homeobox 3 258 negative regulation by host of viral transcription cytoplasm sequence-specific DNA binding large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1) 17 Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;6.85e-06) CCTGCAGAGTCCTCTCCGTCA 0.577000 43 122 3.86361e-14 5.26492e-14 1 1 0 COL14A1 7373 broad.mit.edu 37 8 121219204 121219204 + Silent SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr8:121219204G>A ENST00000297848.3 + 10 1332 c.1062G>A c.(1060-1062)ggG>ggA p.G354G COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000309791.4_Silent_p.G354G|COL14A1_ENST00000537875.1_Silent_p.G354G|COL14A1_ENST00000247781.3_Silent_p.G259G NM_021110.1 NP_066933.1 Q05707 COEA1_HUMAN collagen, type XIV, alpha 1 354 Fibronectin type-III 2. cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 119 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) CCATCACTGGGCCGCCTACGG 0.398000 9 15 0 0 1 0 0 TCEAL4 79921 broad.mit.edu 37 X 102841902 102841902 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chrX:102841902C>T ENST00000472745.1 + 3 851 c.299C>T c.(298-300)cCa>cTa p.P100L TCEAL4_ENST00000472484.1_Missense_Mutation_p.P100L|TCEAL4_ENST00000372629.4_Missense_Mutation_p.P243L|TCEAL4_ENST00000415568.2_Missense_Mutation_p.P100L|TCEAL4_ENST00000494801.1_Missense_Mutation_p.P100L|TCEAL4_ENST00000468024.1_Missense_Mutation_p.P100L Q96EI5 TCAL4_HUMAN transcription elongation factor A (SII)-like 4 100 Glu-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus endometrium(1)|kidney(1)|large_intestine(2)|skin(2) 6 gagggaaagccagagagtgaa 0.517000 7 31 0 0 1 0 0 NLRP4 147945 broad.mit.edu 37 19 56369433 56369433 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:56369433G>T ENST00000301295.6 + 3 1096 c.674G>T c.(673-675)aGa>aTa p.R225I NLRP4_ENST00000346986.5_Missense_Mutation_p.R225I|NLRP4_ENST00000587891.1_Missense_Mutation_p.R150I NM_134444.4 NP_604393.2 Q96MN2 NALP4_HUMAN NLR family, pyrin domain containing 4 225 NACHT. ATP binding breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8) 42 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) CAACCGGAGAGACTCTTGTTC 0.557000 25 66 4.87955e-14 6.6212e-14 1 1 0 PADI4 23569 broad.mit.edu 37 1 17682574 17682574 + Silent SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:17682574G>T ENST00000375448.4 + 12 1433 c.1407G>T c.(1405-1407)gtG>gtT p.V469V PADI4_ENST00000487048.1_3'UTR NM_012387.2 NP_036519.2 Q9UM07 PADI4_HUMAN peptidyl arginine deiminase, type IV 469 chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calcium ion binding|protein-arginine deiminase activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3) 26 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199) L-Citrulline(DB00155) GGCTGTCCGTGGGCCACGTGG 0.617000 15 37 2.61681e-11 3.37717e-11 1 1 0 PTCHD4 442213 broad.mit.edu 37 6 48036047 48036047 + Missense_Mutation SNP G G C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr6:48036047G>C ENST00000543600.1 - 1 333 c.294C>G c.(292-294)atC>atG p.I98M PTCHD4_ENST00000339488.4_Missense_Mutation_p.I115M Q6ZW05 CF138_HUMAN patched domain containing 4 115 integral to membrane hedgehog receptor activity GGGAGAGGAGGATCACCCTGC 0.582000 17 92 0 0 1 0 0 BAP1 8314 broad.mit.edu 37 3 52437152 52437152 + Splice_Site SNP A A G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr3:52437152A>G ENST00000460680.1 - 14 2362 c.e14+1 BAP1_ENST00000296288.5_Splice_Site NM_004656.2 NP_004647.1 Q92560 BAP1_HUMAN BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase) monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process cytoplasm|nucleolus|PR-DUB complex chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2) 180 BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277) ACGGAGGCTCACCTTGGGTGA 0.567000 """N, Mis, F, S, O""" """uveal melanoma, breast, NSCLC, RCC""" """mesothelioma, uveal melanoma""" 7 31 0 0 1 0 0 XYLT1 64131 broad.mit.edu 37 16 17232259 17232259 + Missense_Mutation SNP C C A rs147101412 by1000genomes TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr16:17232259C>A ENST00000261381.6 - 8 1801 c.1717G>T c.(1717-1719)Ggc>Tgc p.G573C CTD-2576D5.4_ENST00000567344.1_RNA NM_022166.3 NP_071449.1 Q86Y38 XYLT1_HUMAN xylosyltransferase I 573 glycosaminoglycan biosynthetic process endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane acetylglucosaminyltransferase activity|protein xylosyltransferase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 GGGGAGCAGCCGCACCAGTCC 0.577000 46 34 4.64027e-19 6.75852e-19 1 1 0 NOX3 50508 broad.mit.edu 37 6 155764457 155764457 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr6:155764457C>A ENST00000159060.2 - 5 538 c.436G>T c.(436-438)Ggc>Tgc p.G146C NM_015718.2 NP_056533.1 Q9HBY0 NOX3_HUMAN NADPH oxidase 3 146 Ferric oxidoreductase. electron carrier activity|flavin adenine dinucleotide binding|iron ion binding cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1) 45 Breast(66;0.0183) OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815) GGGGTGTTGCCCAGCTTGGAA 0.567000 20 26 1.55795e-14 2.13078e-14 1 1 0 FCRL3 115352 broad.mit.edu 37 1 157665995 157665995 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:157665995G>T ENST00000368184.3 - 7 1258 c.967C>A c.(967-969)Cac>Aac p.H323N FCRL3_ENST00000368186.5_Missense_Mutation_p.H323N|FCRL3_ENST00000473231.1_5'UTR|RP11-367J7.3_ENST00000453692.1_RNA NM_052939.3 NP_443171.2 Q96P31 FCRL3_HUMAN Fc receptor-like 3 323 Ig-like C2-type 4. integral to membrane|plasma membrane receptor activity autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2) 69 all_hematologic(112;0.0378) CCTTCTTTGTGCCAGGAGAAT 0.522000 94 71 1.82171e-49 2.95666e-49 1 1 0 STX2 2054 broad.mit.edu 37 12 131285768 131285768 + Missense_Mutation SNP A A G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr12:131285768A>G ENST00000261653.6 - 8 771 c.605T>C c.(604-606)aTg>aCg p.M202T STX2_ENST00000392373.2_Missense_Mutation_p.M202T NM_001980.3 NP_001971.2 P32856 STX2_HUMAN syntaxin 2 202 t-SNARE coiled-coil homology. acrosome reaction|ectoderm development|intracellular protein transport|organ morphogenesis|signal transduction basolateral plasma membrane|integral to membrane|microsome|soluble fraction calcium-dependent protein binding|SNAP receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|prostate(1) 16 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.79e-06)|all cancers(50;5.27e-05)|Epithelial(86;5.29e-05) CTCCAGCTTCATGATGTCCTT 0.383000 4 43 0 0 1 0 0 NAIF1 203245 broad.mit.edu 37 9 130829166 130829166 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr9:130829166C>A ENST00000373078.4 - 1 434 c.215G>T c.(214-216)tGg>tTg p.W72L NM_197956.3 NP_931045.1 Q69YI7 NAIF1_HUMAN nuclear apoptosis inducing factor 1 72 apoptosis|induction of apoptosis nucleus central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 GAGGTCAGACCACTTCTTCTT 0.687000 7 115 5.18039e-06 5.84194e-06 1 1 0 REXO1 57455 broad.mit.edu 37 19 1827553 1827553 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:1827553C>T ENST00000170168.4 - 2 1329 c.1235G>A c.(1234-1236)cGt>cAt p.R412H NM_020695.3 NP_065746.3 Q8N1G1 REXO1_HUMAN REX1, RNA exonuclease 1 homolog (S. cerevisiae) 412 nucleus exonuclease activity|nucleic acid binding breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 16 Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CTTGTCCGCACGGGGCTTCTC 0.682000 8 33 0 0 1 0 0 MED29 55588 broad.mit.edu 37 19 39882062 39882062 + Missense_Mutation SNP G G C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:39882062G>C ENST00000315588.5 + 1 112 c.63G>C c.(61-63)aaG>aaC p.K21N MED29_ENST00000594368.1_5'UTR|MED29_ENST00000599213.2_5'UTR NM_017592.1 NP_060062.1 Q9NX70 MED29_HUMAN mediator complex subunit 29 168 regulation of transcription, DNA-dependent|transcription, DNA-dependent mediator complex protein binding lung(2)|ovary(1)|pancreas(1) 4 all_cancers(60;7.82e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512) Epithelial(26;1.04e-26)|all cancers(26;7.68e-24)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199) ACGCGAGGAAGATGGCTGCAT 0.617000 10 26 0 0 1 0 0 PCDHB13 56123 broad.mit.edu 37 5 140594255 140594255 + Missense_Mutation SNP G G C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr5:140594255G>C ENST00000341948.4 + 1 747 c.560G>C c.(559-561)aGt>aCt p.S187T NM_018933.2 NP_061756.1 Q9Y5F0 PCDBD_HUMAN 187 Cadherin 2. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 66 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CGCAAACGCAGTGATGGCAGG 0.502000 23 13 0 0 1 0 0 SH3KBP1 30011 broad.mit.edu 37 X 19554562 19554562 + Silent SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chrX:19554562G>A ENST00000397821.3 - 18 2261 c.1971C>T c.(1969-1971)gaC>gaT p.D657D SH3KBP1_ENST00000379698.4_Silent_p.D620D|SH3KBP1_ENST00000379716.1_Silent_p.D419D|SH3KBP1_ENST00000541422.1_Silent_p.D396D NM_031892.2 NP_114098.1 Q96B97 SH3K1_HUMAN SH3-domain kinase binding protein 1 657 apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome SH3 domain binding breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4) 29 CTTTCTTTATGTCGTTCACTT 0.358000 5 20 0 0 1 0 0 NR4A3 8013 broad.mit.edu 37 9 102590799 102590799 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr9:102590799G>A ENST00000330847.1 + 2 552 c.508G>A c.(508-510)Gca>Aca p.A170T NR4A3_ENST00000395097.2_Missense_Mutation_p.A159T|NR4A3_ENST00000338488.4_Missense_Mutation_p.A159T Q92570 NR4A3_HUMAN nuclear receptor subfamily 4, group A, member 3 159 regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2) Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189) ATGGGACGAGGCACTGCCCTC 0.736000 T EWSR1 extraskeletal myxoid chondrosarcoma 4 39 0 0 1 0 0 FRYL 285527 broad.mit.edu 37 4 48555307 48555307 + Missense_Mutation SNP A A G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr4:48555307A>G ENST00000358350.4 - 36 4964 c.4360T>C c.(4360-4362)Tca>Cca p.S1454P FRYL_ENST00000507873.2_5'UTR|FRYL_ENST00000503238.1_Missense_Mutation_p.S1454P|FRYL_ENST00000537810.1_Missense_Mutation_p.S1454P|FRYL_ENST00000507711.1_Missense_Mutation_p.S1454P|FRYL_ENST00000264319.7_5'UTR NM_015030.1 NP_055845.1 O94915 FRYL_HUMAN FRY-like 1454 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 91 GTGACCCCTGAACTGACAGGA 0.438000 13 82 0 0 1 0 0 C8orf74 203076 broad.mit.edu 37 8 10555134 10555134 + Silent SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr8:10555134G>T ENST00000304519.5 + 3 296 c.267G>T c.(265-267)acG>acT p.T89T RP1L1_ENST00000329335.3_Intron NM_001040032.1 NP_001035121.1 Q6P047 CH074_HUMAN chromosome 8 open reading frame 74 89 central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1) 13 COAD - Colon adenocarcinoma(149;0.0811) AGGCTGTGACGATCCTGGGGA 0.587000 42 70 3.66854e-30 5.73817e-30 1 1 0 PDZD2 23037 broad.mit.edu 37 5 31799653 31799653 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr5:31799653C>T ENST00000438447.1 + 2 686 c.298C>T c.(298-300)Cgc>Tgc p.R100C PDZD2_ENST00000282493.3_Missense_Mutation_p.R100C O15018 PDZD2_HUMAN PDZ domain containing 2 100 PDZ 1. cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 TGGTGAAAAGCGCAGGGGGGG 0.572000 15 210 0 0 1 0 0 HFM1 164045 broad.mit.edu 37 1 91782016 91782016 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:91782016C>T ENST00000370425.3 - 26 2928 c.2830G>A c.(2830-2832)Gca>Aca p.A944T HFM1_ENST00000462405.1_5'UTR|HFM1_ENST00000370424.3_Missense_Mutation_p.A623T|HFM1_ENST00000294696.5_Missense_Mutation_p.A176T NM_001017975.3 NP_001017975.3 A2PYH4 HFM1_HUMAN HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) 944 SEC63. ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 75 all_lung(203;0.00961)|Lung NSC(277;0.0351) all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171) TTTACGATTGCATTTGACAAT 0.264000 13 48 0 0 1 0 0 BSX 390259 broad.mit.edu 37 11 122852304 122852304 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:122852304G>T ENST00000343035.2 - 1 124 c.76C>A c.(76-78)Ctg>Atg p.L26M NM_001098169.1 NP_001091639.1 Q3C1V8 BSH_HUMAN brain-specific homeobox 26 endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2) 10 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0361) TTGTGCAGCAGGATGTCCTCG 0.587000 6 12 0.00116845 0.00122986 1 1 0 CRYGS 1427 broad.mit.edu 37 3 186256678 186256678 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr3:186256678C>A ENST00000392499.2 - 4 683 c.344G>T c.(343-345)tGc>tTc p.C115F CRYGS_ENST00000307944.5_Missense_Mutation_p.C115F NM_017541.2 NP_060011.1 P22914 CRBS_HUMAN crystallin, gamma S 115 Beta/gamma crystallin 'Greek key' 3. structural constituent of eye lens endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2) 11 all_cancers(143;3.75e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.5e-22) GBM - Glioblastoma multiforme(93;0.0906) GATGGAAGGGCAATCTTCGGT 0.468000 14 26 0.000151284 0.000164325 1 1 0 CXorf36 79742 broad.mit.edu 37 X 45059913 45059913 + Silent SNP A A G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chrX:45059913A>G ENST00000398000.2 - 1 233 c.159T>C c.(157-159)acT>acC p.T53T RP11-342D14.1_ENST00000450527.1_RNA|CXorf36_ENST00000377934.4_Silent_p.T53T|RP11-342D14.1_ENST00000438181.1_RNA NM_176819.3 NP_789789.2 Q9H7Y0 CX036_HUMAN chromosome X open reading frame 36 53 extracellular region endometrium(1)|large_intestine(2)|lung(4) 7 GACCGAGGAAAGTCCTTCCAA 0.438000 18 29 0 0 1 0 0 SREBF2 6721 broad.mit.edu 37 22 42276884 42276884 + Silent SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr22:42276884C>T ENST00000361204.4 + 10 2092 c.1926C>T c.(1924-1926)ttC>ttT p.F642F NM_004599.2 NP_004590.2 Q12772 SRBP2_HUMAN sterol regulatory element binding transcription factor 2 642 cholesterol metabolic process ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex protein C-terminus binding NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 AGAAAGTCTTCCAGTGCCGGC 0.657000 26 33 0 0 1 0 0 DLG5 9231 broad.mit.edu 37 10 79571778 79571778 + Missense_Mutation SNP T T A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr10:79571778T>A ENST00000372391.2 - 22 4231 c.4226A>T c.(4225-4227)cAg>cTg p.Q1409L DLG5_ENST00000459739.1_5'UTR|DLG5_ENST00000372388.2_Missense_Mutation_p.Q1069L NM_004747.3 NP_004738.3 Q8TDM6 DLG5_HUMAN discs, large homolog 5 (Drosophila) 1409 PDZ 3. cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis cell junction|cytoplasm beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146) Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446) GAGCCGCGCCTGCTGCTCCGT 0.652000 34 51 0 0 1 0 0 EPB41L4B 54566 broad.mit.edu 37 9 111936881 111936881 + Silent SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr9:111936881G>A ENST00000374566.3 - 26 3173 c.2656C>T c.(2656-2658)Ctg>Ttg p.L886L NM_019114.3 NP_061987.3 Q9H329 E41LB_HUMAN erythrocyte membrane protein band 4.1 like 4B 886 cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding|structural constituent of cytoskeleton NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 TCTCTCTCCAGTTCCTGCCGG 0.443000 14 28 0 0 1 0 0 DLD 1738 broad.mit.edu 37 7 107556053 107556053 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr7:107556053C>T ENST00000205402.5 + 9 1068 c.787C>T c.(787-789)Cgc>Tgc p.R263C DLD_ENST00000440410.1_Missense_Mutation_p.R240C|DLD_ENST00000437604.2_Missense_Mutation_p.R215C|DLD_ENST00000537148.1_Missense_Mutation_p.R164C NM_000108.3 NP_000099.2 P09622 DLDH_HUMAN dihydrolipoamide dehydrogenase 263 branched chain family amino acid catabolic process|cell redox homeostasis|lysine catabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|tricarboxylic acid cycle mitochondrial matrix dihydrolipoyl dehydrogenase activity NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(10)|prostate(1) 20 NADH(DB00157) AAACTTTCAACGCATCCTTCA 0.353000 5 53 0 0 1 0 0 OR8D2 283160 broad.mit.edu 37 11 124189627 124189627 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:124189627G>T ENST00000357438.2 - 1 557 c.467C>A c.(466-468)gCc>gAc p.A156D NM_001002918.1 NP_001002918.1 Q9GZM6 OR8D2_HUMAN olfactory receptor, family 8, subfamily D, member 2 156 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 25 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525) ATGGACTGTGGCCCACAGAAA 0.448000 23 90 3.28513e-13 4.36008e-13 1 1 0 ERCC6 2074 broad.mit.edu 37 10 50666958 50666958 + Missense_Mutation SNP T T A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr10:50666958T>A ENST00000355832.5 - 21 4463 c.4385A>T c.(4384-4386)cAg>cTg p.Q1462L ERCC6_ENST00000542458.1_Missense_Mutation_p.Q832L|RP11-123B3.2_ENST00000423283.1_RNA NM_000124.2 NP_000115.1 Q03468 ERCC6_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 6 1462 base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair nucleolus|soluble fraction|transcription elongation factor complex ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 GACACAAGACTGTGATGCAGA 0.463000 Direct reversal of damage;Nucleotide excision repair (NER) 44 81 0 0 1 0 0 CNTN5 53942 broad.mit.edu 37 11 99932087 99932087 + Missense_Mutation SNP G G C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:99932087G>C ENST00000524871.1 + 10 1414 c.1124G>C c.(1123-1125)cGt>cCt p.R375P CNTN5_ENST00000418526.2_Missense_Mutation_p.R301P|CNTN5_ENST00000527185.1_Missense_Mutation_p.R375P|CNTN5_ENST00000528682.1_Missense_Mutation_p.R375P|CNTN5_ENST00000279463.3_Missense_Mutation_p.R375P NM_014361.3 NP_055176.1 O94779 CNTN5_HUMAN contactin 5 375 Ig-like C2-type 3. cell adhesion anchored to membrane|plasma membrane protein binding p.R375H(2) NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) GAAAACTCACGTGGAAAAAAT 0.428000 21 97 0 0 1 0 0 PROX2 283571 broad.mit.edu 37 14 75329870 75329870 + Missense_Mutation SNP A A G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr14:75329870A>G ENST00000556084.2 - 1 667 c.668T>C c.(667-669)cTa>cCa p.L223P PROX2_ENST00000445876.1_Missense_Mutation_p.L223P|PROX2_ENST00000556489.2_Missense_Mutation_p.L223P NM_001080408.2 NP_001073877.2 Q3B8N5 PROX2_HUMAN prospero homeobox 2 223 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding kidney(1)|large_intestine(2)|lung(3) 6 KIRC - Kidney renal clear cell carcinoma(43;0.238) BRCA - Breast invasive adenocarcinoma(234;0.00652) CAGAATCTCTAGTGAAGCTGG 0.537000 53 65 0 0 1 0 0 MUM1L1 139221 broad.mit.edu 37 X 105449859 105449859 + Missense_Mutation SNP T T C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chrX:105449859T>C ENST00000337685.2 + 5 1219 c.434T>C c.(433-435)cTt>cCt p.L145P MUM1L1_ENST00000357175.2_Missense_Mutation_p.L145P|MUM1L1_ENST00000372552.1_Missense_Mutation_p.L145P NM_152423.4 NP_689636.3 Q5H9M0 MUML1_HUMAN melanoma associated antigen (mutated) 1-like 1 145 autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 31 CCAGGGTGTCTTGAGGAAAGG 0.428000 7 33 0 0 1 0 0 NARG2 79664 broad.mit.edu 37 15 60742005 60742005 + Missense_Mutation SNP C C G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr15:60742005C>G ENST00000261520.4 - 10 1395 c.1161G>C c.(1159-1161)gaG>gaC p.E387D NARG2_ENST00000439632.1_Missense_Mutation_p.E250D NM_024611.4 NP_078887.2 Q659A1 NARG2_HUMAN NMDA receptor regulated 2 387 nucleus breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 32 TTTCAAGACTCTCAATTTTTC 0.348000 26 64 0 0 1 0 0 ZNF337 26152 broad.mit.edu 37 20 25656525 25656525 + Nonsense_Mutation SNP G G A rs16987972 TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr20:25656525G>A ENST00000376436.1 - 4 1938 c.1399C>T c.(1399-1401)Cga>Tga p.R467* RP4-694B14.5_ENST00000439498.1_RNA|RP4-694B14.5_ENST00000455791.1_RNA|ZNF337_ENST00000538750.1_Nonsense_Mutation_p.R435*|RP4-694B14.5_ENST00000414393.1_RNA|ZNF337_ENST00000252979.5_Nonsense_Mutation_p.R467* zinc finger protein 337 breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 ATAAAGCCTCGTCCACAGTCC 0.468000 20 156 0 0 1 0 0 OR9I1 219954 broad.mit.edu 37 11 57886529 57886529 + Silent SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:57886529G>A ENST00000302610.1 - 1 387 c.388C>T c.(388-390)Ctg>Ttg p.L130L OR9Q1_ENST00000335397.3_Intron NM_001005211.1 NP_001005211.1 Q8NGQ6 OR9I1_HUMAN olfactory receptor, family 9, subfamily I, member 1 130 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(2)|liver(1)|lung(15)|pancreas(1)|skin(1)|urinary_tract(1) 23 Breast(21;0.0589) GTATAGAGCAGTGGGTTGCGA 0.557000 18 35 0 0 1 0 0 RIMKLB 57494 broad.mit.edu 37 12 8906616 8906616 + Silent SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr12:8906616C>T ENST00000357529.3 + 6 1886 c.624C>T c.(622-624)gtC>gtT p.V208V RIMKLB_ENST00000535829.1_Silent_p.V208V|RIMKLB_ENST00000299673.5_3'UTR|RIMKLB_ENST00000538135.1_Silent_p.V208V NM_020734.2 NP_065785.2 Q9ULI2 RIMKB_HUMAN ribosomal modification protein rimK-like family member B 208 ATP-grasp. protein modification process cytoplasm acid-amino acid ligase activity|ATP binding|metal ion binding central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 18 GTGTCATTGTCGTGGGAGGCC 0.443000 34 79 0 0 1 0 0 PLCH1 23007 broad.mit.edu 37 3 155199898 155199898 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr3:155199898C>A ENST00000460012.1 - 23 4184 c.3827G>T c.(3826-3828)tGg>tTg p.W1276L PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000414191.1_Missense_Mutation_p.W1276L|PLCH1_ENST00000340059.7_Missense_Mutation_p.W1314L|PLCH1_ENST00000334686.6_Missense_Mutation_p.W1276L|PLCH1_ENST00000494598.1_Intron Q4KWH8 PLCH1_HUMAN phospholipase C, eta 1 1314 lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 107 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) TTTTGGTAACCAGCCACGAGA 0.498000 22 91 5.26018e-13 6.96081e-13 1 1 0 UBR5 51366 broad.mit.edu 37 8 103354709 103354709 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr8:103354709G>A ENST00000520539.1 - 9 1696 c.1090C>T c.(1090-1092)Cct>Tct p.P364S UBR5_ENST00000220959.4_Missense_Mutation_p.P364S|UBR5_ENST00000521922.1_Missense_Mutation_p.P358S NM_015902.5 NP_056986.2 O95071 UBR5_HUMAN ubiquitin protein ligase E3 component n-recognin 5 364 cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus nucleus|soluble fraction protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 124 all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000442) ACCTTATCAGGCCACCACTGC 0.408000 26 72 0 0 1 0 0 ASTE1 28990 broad.mit.edu 37 3 130743267 130743267 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr3:130743267G>T ENST00000264992.3 - 3 1325 c.884C>A c.(883-885)tCc>tAc p.S295Y ASTE1_ENST00000514044.1_Missense_Mutation_p.S295Y NM_014065.2 NP_054784.2 Q2TB18 ASTE1_HUMAN asteroid homolog 1 (Drosophila) 295 DNA repair nuclease activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(2)|prostate(1) 22 TTCTTCCATGGAACAGCAGAG 0.433000 23 47 9.57634e-11 1.21767e-10 1 1 0 IGFL4 444882 broad.mit.edu 37 19 46543644 46543644 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:46543644G>T ENST00000377697.1 - 3 154 c.101C>A c.(100-102)cCc>cAc p.P34H IGFL4_ENST00000601672.1_5'UTR|IGFL4_ENST00000595006.1_5'UTR NM_001002923.1 NP_001002923.1 Q6B9Z1 IGFL4_HUMAN IGF-like family member 4 34 extracellular region cervix(1)|kidney(1)|lung(1) 3 all_neural(266;0.113)|Ovarian(192;0.127) OV - Ovarian serous cystadenocarcinoma(262;0.0036)|GBM - Glioblastoma multiforme(486;0.022)|Epithelial(262;0.208) CCCGCACCTGGGCGCTGGCTG 0.612000 21 45 7.45023e-12 9.6987e-12 1 1 0 DIP2B 57609 broad.mit.edu 37 12 51090959 51090959 + Splice_Site SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr12:51090959G>T ENST00000301180.5 + 17 2082 c.e17+1 NM_173602.2 NP_775873.2 Q9P265 DIP2B_HUMAN DIP2 disco-interacting protein 2 homolog B (Drosophila) nucleus catalytic activity|transcription factor binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2) 60 CAATCCGCAGGTACTGTTCAG 0.468000 12 30 1.08611e-07 1.28488e-07 1 1 0 TTN 7273 broad.mit.edu 37 2 179446445 179446445 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr2:179446445C>T ENST00000589042.1 - 316 66774 c.66550G>A c.(66550-66552)Ggc>Agc p.G22184S TTN_ENST00000591111.1_Missense_Mutation_p.G20543S|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G13244S|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G13311S|TTN_ENST00000342992.6_Missense_Mutation_p.G19616S|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G13119S NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 20543 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) GGGCTGCCGCCGTCATAGGCT 0.488000 3 11 0 0 1 0 0 ADORA1 134 broad.mit.edu 37 1 203134576 203134576 + Missense_Mutation SNP A A G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:203134576A>G ENST00000367236.4 + 3 1450 c.529A>G c.(529-531)Atg>Gtg p.M177V ADORA1_ENST00000472535.1_3'UTR|ADORA1_ENST00000309502.3_Missense_Mutation_p.M177V|ADORA1_ENST00000337894.4_Missense_Mutation_p.M177V|ADORA1_ENST00000367235.1_3'UTR NM_001048230.1 NP_001041695.1 P30542 AA1R_HUMAN adenosine A1 receptor 177 induction of apoptosis by extracellular signals|inflammatory response|nervous system development|phagocytosis integral to plasma membrane central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(9)|lung(7)|prostate(2)|skin(1)|urinary_tract(1) 25 Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Gabapentin(DB00996)|Imipramine(DB00458)|Pegademase bovine(DB00061)|Theophylline(DB00277) GGTCATCAGCATGGAGTACAT 0.567000 9 72 0 0 1 0 0 ITIH6 347365 broad.mit.edu 37 X 54783890 54783890 + Nonsense_Mutation SNP T T A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chrX:54783890T>A ENST00000218436.6 - 8 2646 c.2617A>T c.(2617-2619)Aag>Tag p.K873* NM_198510.2 NP_940912.1 Q6UXX5 ITH5L_HUMAN inter-alpha-trypsin inhibitor heavy chain family, member 6 873 Pro-rich. hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity GTCTCAGGCTTGGAAAGTGAT 0.512000 33 44 0 0 1 0 0 GPR132 29933 broad.mit.edu 37 14 105521800 105521800 + Translation_Start_Site SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr14:105521800C>A ENST00000329797.3 - 0 869 GPR132_ENST00000392585.2_Intron|GPR132_ENST00000539291.2_De_novo_Start_OutOfFrame|GPR132_ENST00000546679.1_Intron NM_013345.2 NP_037477.1 Q9UNW8 GP132_HUMAN G protein-coupled receptor 132 response to stress integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1) 18 all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219) OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227) Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521) tcggcagaaccttctcatctt 0.517000 40 72 2.87052e-16 4.05197e-16 1 1 0 RELB 5971 broad.mit.edu 37 19 45515439 45515439 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:45515439G>A ENST00000221452.8 + 4 559 c.409G>A c.(409-411)Ggc>Agc p.G137S RELB_ENST00000540120.1_Missense_Mutation_p.G137S|RELB_ENST00000505236.1_Missense_Mutation_p.G134S NM_006509.3 NP_006500.2 Q01201 RELB_HUMAN v-rel avian reticuloendotheliosis viral oncogene homolog B 137 RHD. nucleus protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(3)|skin(1) 12 Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00986) CAAGCAGCGCGGCATGCGCTT 0.746000 20 21 0 0 1 0 0 GPR123 84435 broad.mit.edu 37 10 134884576 134884576 + Silent SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr10:134884576C>A ENST00000607359.1 + 1 144 c.144C>A c.(142-144)acC>acA p.T48T Q86SQ6 GP123_HUMAN G protein-coupled receptor 123 0 integral to membrane|plasma membrane G-protein coupled receptor activity endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3) 14 all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05) GGGGCCCAACCGCTGGGGGCC 0.667000 10 23 2.17888e-05 2.41344e-05 1 1 0 CNOT6 57472 broad.mit.edu 37 5 179991505 179991505 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr5:179991505G>T ENST00000393356.1 + 7 826 c.402G>T c.(400-402)caG>caT p.Q134H CNOT6_ENST00000502447.1_3'UTR|CNOT6_ENST00000261951.4_Missense_Mutation_p.Q134H Q9ULM6 CNOT6_HUMAN CCR4-NOT transcription complex, subunit 6 134 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus exonuclease activity|metal ion binding|protein binding|RNA binding central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|skin(1) 23 all_cancers(89;3.3e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00543)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) OV - Ovarian serous cystadenocarcinoma(192;0.023) CCCTTACCCAGGATATATTGA 0.303000 27 45 4.22769e-11 5.44046e-11 1 1 0 STK3 6788 broad.mit.edu 37 8 99560300 99560300 + Silent SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr8:99560300C>A ENST00000523601.1 - 11 1521 c.1122G>T c.(1120-1122)ggG>ggT p.G374G STK3_ENST00000419617.2_Silent_p.G346G NM_001256312.1 NP_001243241.1 Q13188 STK3_HUMAN serine/threonine kinase 3 346 Poly-Glu. apoptosis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of apoptosis cytoplasm|nucleus ATP binding|magnesium ion binding|protein dimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 17 Breast(36;2.4e-06) Breast(495;0.106) OV - Ovarian serous cystadenocarcinoma(57;0.0382) KIRC - Kidney renal clear cell carcinoma(542;9.44e-06) TGGTCTGGGCCCCTTCACTCA 0.498000 7 24 3.09899e-07 3.62599e-07 1 1 0 MALAT1 378938 broad.mit.edu 37 11 65268107 65268107 + RNA SNP A A T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:65268107A>T ENST00000534336.1 + 0 2875 NR_002819.2 GAGCGAGTGCAATTTGGTGAT 0.552000 32 125 0 0 1 0 0 GCC1 79571 broad.mit.edu 37 7 127222280 127222280 + Missense_Mutation SNP T T A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr7:127222280T>A ENST00000321407.2 - 2 2540 c.2116A>T c.(2116-2118)Atc>Ttc p.I706F NM_024523.5 NP_078799.2 Q96CN9 GCC1_HUMAN GRIP and coiled-coil domain containing 1 706 Golgi membrane|plasma membrane protein binding breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 38 TTCTTTTCGATGTGGCTCTGC 0.592000 20 107 0 0 1 0 0 TAS2R41 259287 broad.mit.edu 37 7 143175319 143175319 + Silent SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr7:143175319C>A ENST00000408916.1 + 1 354 c.354C>A c.(352-354)acC>acA p.T118T EPHA1-AS1_ENST00000429289.1_RNA NM_176883.2 NP_795364.2 P59536 T2R41_HUMAN taste receptor, type 2, member 41 118 sensory perception of taste integral to membrane G-protein coupled receptor activity endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1) 18 Melanoma(164;0.15) CACACTCCACCTTCCTGTGGC 0.527000 35 39 2.48696e-23 3.76654e-23 1 1 0 CA10 56934 broad.mit.edu 37 17 50008355 50008355 + Missense_Mutation SNP T T A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr17:50008355T>A ENST00000451037.2 - 3 1214 c.274A>T c.(274-276)Agg>Tgg p.R92W CA10_ENST00000340813.6_Missense_Mutation_p.R98W|CA10_ENST00000570565.1_Missense_Mutation_p.R17W|CA10_ENST00000285273.4_Missense_Mutation_p.R92W|CA10_ENST00000442502.2_Missense_Mutation_p.R92W NM_020178.4 NP_064563.1 Q9NS85 CAH10_HUMAN carbonic anhydrase X 92 brain development cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1) 41 BRCA - Breast invasive adenocarcinoma(22;4.74e-06) CTTACCTTCCTGCCCCCCGTG 0.493000 65 191 0 0 1 0 0 NTNG1 22854 broad.mit.edu 37 1 108023382 108023382 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:108023382C>A ENST00000370067.1 + 7 1930 c.1303C>A c.(1303-1305)Cag>Aag p.Q435K NTNG1_ENST00000542803.1_Missense_Mutation_p.Q514K|NTNG1_ENST00000370074.4_Missense_Mutation_p.Q413K|NTNG1_ENST00000370072.3_Missense_Mutation_p.Q469K|NTNG1_ENST00000370070.2_Missense_Mutation_p.Q435K|NTNG1_ENST00000370065.1_Missense_Mutation_p.Q469K|NTNG1_ENST00000370066.1_Missense_Mutation_p.Q455K|NTNG1_ENST00000370073.2_Missense_Mutation_p.Q514K|NTNG1_ENST00000370061.3_Missense_Mutation_p.Q480K|NTNG1_ENST00000370068.1_Missense_Mutation_p.Q514K|NTNG1_ENST00000370071.2_Missense_Mutation_p.Q455K Q9Y2I2 NTNG1_HUMAN netrin G1 514 Laminin EGF-like 3. axonogenesis anchored to plasma membrane protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1) 37 all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243) Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245) CGACTCTGGCCAGGGCGCGCC 0.706000 4 13 2.56e-06 2.90591e-06 1 1 0 LRFN3 79414 broad.mit.edu 37 19 36435504 36435504 + Silent SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:36435504G>A ENST00000588831.1 + 4 2524 c.1470G>A c.(1468-1470)cgG>cgA p.R490R LRFN3_ENST00000246529.3_Silent_p.R490R Q9BTN0 LRFN3_HUMAN leucine rich repeat and fibronectin type III domain containing 3 490 Fibronectin type-III. cell adhesion axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1) 12 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) CGTCAGGCCGGACCTACGATC 0.711000 3 17 0 0 1 0 0 PKNOX2 63876 broad.mit.edu 37 11 125267917 125267917 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:125267917C>T ENST00000298282.9 + 7 818 c.547C>T c.(547-549)Ccc>Tcc p.P183S PKNOX2_ENST00000530517.1_3'UTR|PKNOX2_ENST00000542175.1_Missense_Mutation_p.P119S NM_022062.2 NP_071345.2 Q96KN3 PKNX2_HUMAN PBX/knotted 1 homeobox 2 183 nucleus sequence-specific DNA binding transcription factor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 29 Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116) BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117) TCTAGGGGGGCCCTACTCCCC 0.537000 6 103 0 0 1 0 0 EPPK1 83481 broad.mit.edu 37 8 144941852 144941852 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr8:144941852G>A ENST00000525985.1 - 2 5641 c.5570C>T c.(5569-5571)gCa>gTa p.A1857V P58107 EPIPL_HUMAN epiplakin 1 1857 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) GAACAGGTCTGCAGCTGTCAC 0.542000 30 65 0 0 1 0 0 CSMD1 64478 broad.mit.edu 37 8 3224724 3224724 + Missense_Mutation SNP T T G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr8:3224724T>G ENST00000602557.1 - 21 3503 c.2948A>C c.(2947-2949)gAc>gCc p.D983A CSMD1_ENST00000539096.1_Missense_Mutation_p.D982A|CSMD1_ENST00000602723.1_Missense_Mutation_p.D983A|CSMD1_ENST00000537824.1_Missense_Mutation_p.D982A|CSMD1_ENST00000542608.1_Missense_Mutation_p.D982A|CSMD1_ENST00000520002.1_Missense_Mutation_p.D983A|CSMD1_ENST00000400186.3_Missense_Mutation_p.D983A Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 983 CUB 6. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) CAGTAAATAGTCGTGGGAACT 0.522000 5 8 0 0 1 0 0 MDGA2 161357 broad.mit.edu 37 14 47504368 47504368 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr14:47504368C>A ENST00000426342.1 - 8 1517 c.771G>T c.(769-771)atG>atT p.M257I MDGA2_ENST00000439988.2_Missense_Mutation_p.M486I|MDGA2_ENST00000399232.2_Missense_Mutation_p.M555I|MDGA2_ENST00000357362.3_Missense_Mutation_p.M257I NM_182830.3 NP_878250.2 Q7Z553 MDGA2_HUMAN MAM domain containing glycosylphosphatidylinositol anchor 2 486 Ig-like 3. spinal cord motor neuron differentiation anchored to membrane|plasma membrane breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5) 76 ATCCATCAGGCATTGCAACTT 0.423000 38 163 1.67305e-13 2.24172e-13 1 1 0 UBIAD1 29914 broad.mit.edu 37 1 11333970 11333970 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:11333970C>T ENST00000376810.5 + 1 708 c.382C>T c.(382-384)Ccg>Tcg p.P128S UBIAD1_ENST00000376804.2_Missense_Mutation_p.P128S NM_013319.2 NP_037451.1 Q9Y5Z9 UBIA1_HUMAN UbiA prenyltransferase domain containing 1 128 menaquinone biosynthetic process endoplasmic reticulum membrane|integral to membrane|mitochondrion|nucleus prenyltransferase activity endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(3) 12 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.012)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.52e-06)|COAD - Colon adenocarcinoma(227;0.000254)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0487) AATCTTGGAGCCGCAGGATGT 0.542000 22 50 0 0 1 0 0 LAX1 54900 broad.mit.edu 37 1 203743669 203743669 + Nonsense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:203743669C>T ENST00000442561.2 + 5 1447 c.1057C>T c.(1057-1059)Cag>Tag p.Q353* LAX1_ENST00000367217.5_Nonsense_Mutation_p.Q337*|LAX1_ENST00000367215.1_3'UTR NM_017773.3 NP_060243.2 Q8IWV1 LAX1_HUMAN lymphocyte transmembrane adaptor 1 353 B cell activation|immune response|inactivation of MAPK activity|intracellular signal transduction|negative regulation of T cell activation Golgi apparatus|integral to membrane|plasma membrane protein kinase binding|SH2 domain binding central_nervous_system(2)|endometrium(3)|large_intestine(2)|lung(13)|prostate(1)|stomach(1)|urinary_tract(2) 24 all_cancers(21;0.0915) BRCA - Breast invasive adenocarcinoma(75;0.109) GCCATTCACACAGAGTGAGGA 0.468000 36 104 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9019279 9019279 + Silent SNP G G C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:9019279G>C ENST00000397910.4 - 23 37811 c.37608C>G c.(37606-37608)ccC>ccG p.P12536P NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 12538 cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 ACTTACTTGCGGGGCTTGGGA 0.443000 5 23 0 0 1 0 0 SCN3A 6328 broad.mit.edu 37 2 165997285 165997285 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr2:165997285G>T ENST00000360093.3 - 13 2386 c.1895C>A c.(1894-1896)tCc>tAc p.S632Y SCN3A_ENST00000283254.7_Missense_Mutation_p.S632Y|SCN3A_ENST00000409101.3_Intron NM_001081677.1 NP_001075146.1 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha subunit 632 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3) 120 Lamotrigine(DB00555) CACCATCCTGGATGACATACT 0.522000 26 53 9.57634e-11 1.21767e-10 1 1 0 NCOR1 9611 broad.mit.edu 37 17 16029514 16029514 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr17:16029514C>A ENST00000268712.3 - 15 1773 c.1516G>T c.(1516-1518)Gct>Tct p.A506S NCOR1_ENST00000395851.1_Missense_Mutation_p.A506S|NCOR1_ENST00000395848.1_Missense_Mutation_p.A397S NM_006311.3 NP_006302.2 O75376 NCOR1_HUMAN nuclear receptor corepressor 1 506 cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter nuclear chromatin|spindle microtubule|transcriptional repressor complex histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10) 107 UCEC - Uterine corpus endometrioid carcinoma (92;0.101) GAGGGTCGAGCAATTTGCTGC 0.299000 12 33 3.07112e-06 3.47729e-06 1 1 0 ITGAD 3681 broad.mit.edu 37 16 31435893 31435893 + Missense_Mutation SNP T T C rs150458084 TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr16:31435893T>C ENST00000389202.2 + 29 3416 c.3367T>C c.(3367-3369)Tac>Cac p.Y1123H NM_005353.2 NP_005344.2 Q13349 ITAD_HUMAN integrin, alpha D 1123 cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway integrin complex receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 71 AGCCACACTGTACAAGGCAAG 0.483000 19 40 0 0 1 0 0 KIF5A 3798 broad.mit.edu 37 12 57962811 57962811 + Silent SNP A A C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr12:57962811A>C ENST00000455537.2 + 9 1054 c.780A>C c.(778-780)tcA>tcC p.S260S KIF5A_ENST00000286452.5_Silent_p.S171S NM_004984.2 NP_004975.2 Q12840 KIF5A_HUMAN kinesin family member 5A 260 Kinesin-motor.|Microtubule-binding. blood coagulation|cell death|microtubule-based movement|synaptic transmission cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm ATP binding|microtubule motor activity breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2) 62 AGTCACTGTCAGCTCTGGGCA 0.567000 6 48 0 0 1 0 0 IGLV3-9 28804 broad.mit.edu 37 22 23162082 23162082 + RNA SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr22:23162082G>A ENST00000390316.2 + 0 290 GCAGAAGCCAGGCCAGGCCCC 0.587000 39 48 0 0 1 0 0 CCDC106 29903 broad.mit.edu 37 19 56160413 56160413 + Translation_Start_Site SNP A A G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:56160413A>G ENST00000586790.1 + 1 905 c.1A>G c.(1-3)Atg>Gtg p.M1V CCDC106_ENST00000591241.1_Start_Codon_SNP_p.M1V|CCDC106_ENST00000588740.1_Start_Codon_SNP_p.M1V|CCDC106_ENST00000308964.3_Start_Codon_SNP_p.M1V|CCDC106_ENST00000591578.1_Start_Codon_SNP_p.M1V Q9BWC9 CC106_HUMAN coiled-coil domain containing 106 1 nucleus endometrium(2)|large_intestine(3)|lung(5)|skin(1) 11 Colorectal(82;0.00403)|Ovarian(87;0.133) BRCA - Breast invasive adenocarcinoma(297;0.18) GBM - Glioblastoma multiforme(193;0.105) AAGCCGCGCCATGAATGACCG 0.657000 43 106 0 0 1 0 0 C2orf53 339779 broad.mit.edu 37 2 27361088 27361088 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr2:27361088G>T ENST00000335524.3 - 3 635 c.110C>A c.(109-111)cCt>cAt p.P37H NM_178553.3 NP_848648.2 Q53SZ7 CB053_HUMAN chromosome 2 open reading frame 53 37 Pro-rich. cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 20 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GGGAGAGAGAGGCTGTAGGTT 0.622000 20 29 8.34094e-07 9.62878e-07 1 1 0 TRAF2 7186 broad.mit.edu 37 9 139794066 139794066 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr9:139794066C>T ENST00000359662.3 + 3 254 c.209C>T c.(208-210)gCt>gTt p.A70V TRAF2_ENST00000247668.2_Missense_Mutation_p.A70V|TRAF2_ENST00000536468.1_Missense_Mutation_p.A70V Q12933 TRAF2_HUMAN TNF receptor-associated factor 2 70 activation of caspase activity|activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cellular protein complex assembly|induction of apoptosis by extracellular signals|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|protein autoubiquitination|protein homotrimerization|protein K63-linked ubiquitination|tumor necrosis factor-mediated signaling pathway CD40 receptor complex|cytosol|internal side of plasma membrane CD40 receptor binding|enzyme binding|protein binding|signal transducer activity|sphingolipid binding|ubiquitin-protein ligase activity|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 all_cancers(76;0.11) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.229) OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06) CAGAACTGTGCTGCCTGTGTT 0.383000 35 64 0 0 1 0 0 HIVEP2 3097 broad.mit.edu 37 6 143092507 143092507 + Silent SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr6:143092507C>T ENST00000367603.2 - 5 4111 c.3369G>A c.(3367-3369)ccG>ccA p.P1123P HIVEP2_ENST00000012134.2_Silent_p.P1123P|HIVEP2_ENST00000367604.1_Silent_p.P1123P NM_006734.3 NP_006725.3 P31629 ZEP2_HUMAN human immunodeficiency virus type I enhancer binding protein 2 1123 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 100 OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102) GCACAGCAGGCGGGCCATGGT 0.667000 9 47 0 0 1 0 0 MMP1 4312 broad.mit.edu 37 11 102667848 102667848 + Missense_Mutation SNP A A C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:102667848A>C ENST00000315274.6 - 3 463 c.396T>G c.(394-396)caT>caG p.H132Q WTAPP1_ENST00000525739.2_RNA NM_001145938.1|NM_002421.3 NP_001139410.1|NP_002412.1 P03956 MMP1_HUMAN matrix metallopeptidase 1 (interstitial collagenase) 132 Metalloprotease. blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 30 all_epithelial(12;0.0127) all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233) OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014) TCTCAATGGCATGGTCCACAT 0.433000 33 168 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100674949 100674949 + Silent SNP T T C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr7:100674949T>C ENST00000306151.4 + 3 316 c.252T>C c.(250-252)agT>agC p.S84S NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 84 Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) TGTATTTGAGTTGCAGCACCA 0.453000 47 49 0 0 1 0 0 ABCA7 10347 broad.mit.edu 37 19 1052101 1052101 + Silent SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:1052101C>A ENST00000263094.6 + 22 3354 c.3123C>A c.(3121-3123)cgC>cgA p.R1041R ABCA7_ENST00000433129.1_Silent_p.R1041R|ABCA7_ENST00000435683.2_Silent_p.R903R NM_019112.3 NP_061985.2 Q8IZY2 ABCA7_HUMAN ATP-binding cassette, sub-family A (ABC1), member 7 1041 phagocytosis|transmembrane transport ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane ATP binding|ATPase activity|transporter activity NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 65 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TGAAGGCCCGCCTGCCCCTGA 0.672000 8 21 0.000157383 0.000170454 1 1 0 SH3KBP1 30011 broad.mit.edu 37 X 19564044 19564044 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chrX:19564044G>T ENST00000397821.3 - 15 1909 c.1619C>A c.(1618-1620)tCc>tAc p.S540Y SH3KBP1_ENST00000379698.4_Missense_Mutation_p.S503Y|SH3KBP1_ENST00000379716.1_Missense_Mutation_p.S302Y|SH3KBP1_ENST00000541422.1_Missense_Mutation_p.S279Y NM_031892.2 NP_114098.1 Q96B97 SH3K1_HUMAN SH3-domain kinase binding protein 1 540 apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome SH3 domain binding breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4) 29 ACTCACTTGGGATATGGTAAC 0.478000 12 39 0.000308642 0.000330131 1 1 0 MRPS18A 55168 broad.mit.edu 37 6 43646287 43646287 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr6:43646287G>A ENST00000372133.3 - 3 231 c.220C>T c.(220-222)Cgt>Tgt p.R74C MRPS18A_ENST00000372116.1_Missense_Mutation_p.R74C NM_018135.3 NP_060605.1 Q9NVS2 RT18A_HUMAN mitochondrial ribosomal protein S18A 74 translation mitochondrial small ribosomal subunit structural constituent of ribosome kidney(3)|large_intestine(1) 4 all_cancers(18;6.56e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004) all cancers(41;0.000479)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0102)|OV - Ovarian serous cystadenocarcinoma(102;0.137) AGGTTCCAACGGCAGATGGGG 0.512000 16 41 0 0 1 0 0 LOC645166 645166 broad.mit.edu 37 1 148932888 148932888 + RNA SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:148932888G>T ENST00000539543.1 + 0 144 NR_027355.1 TGAGGTACAGGCTCAGTCTGC 0.637000 8 232 2.80697e-09 3.43296e-09 1 1 0 DMP1 1758 broad.mit.edu 37 4 88583631 88583631 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr4:88583631G>A ENST00000339673.6 + 6 800 c.701G>A c.(700-702)aGt>aAt p.S234N RP11-742B18.1_ENST00000507894.1_RNA|RP11-742B18.1_ENST00000506480.1_RNA|DMP1_ENST00000282479.7_Missense_Mutation_p.S218N NM_004407.3 NP_004398.1 Q13316 DMP1_HUMAN dentin matrix acidic phosphoprotein 1 234 biomineral tissue development|ossification cytoplasm|nucleus|proteinaceous extracellular matrix calcium ion binding|integrin binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1) 32 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227) OV - Ovarian serous cystadenocarcinoma(123;0.000516) AGAATGAACAGTGCAGGCATG 0.493000 7 38 0 0 1 0 0 CPPED1 55313 broad.mit.edu 37 16 12798485 12798485 + Silent SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr16:12798485G>A ENST00000381774.4 - 3 951 c.711C>T c.(709-711)caC>caT p.H237H CPPED1_ENST00000261660.4_Intron|CPPED1_ENST00000433677.2_Intron NM_018340.2 NP_060810.2 Q9BRF8 CPPED_HUMAN calcineurin-like phosphoesterase domain containing 1 237 hydrolase activity|metal ion binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|urinary_tract(1) 18 CTCTACCTGCGTGGATGAACT 0.542000 24 130 0 0 1 0 0 SH2B2 10603 broad.mit.edu 37 7 101952130 101952130 + Missense_Mutation SNP A A C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr7:101952130A>C ENST00000536178.1 + 4 1039 c.994A>C c.(994-996)Atc>Ctc p.I332L SH2B2_ENST00000306803.8_Missense_Mutation_p.I289L O14492 SH2B2_HUMAN SH2B adaptor protein 2 289 blood coagulation|insulin receptor signaling pathway|intracellular signal transduction cytosol|plasma membrane JAK pathway signal transduction adaptor activity|SH3/SH2 adaptor activity|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1) 9 CTTGGAGACCATCGACTCTCT 0.602000 91 115 0 0 1 0 0 B3GNT4 79369 broad.mit.edu 37 12 122691525 122691525 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr12:122691525G>A ENST00000535274.1 + 1 2379 c.652G>A c.(652-654)Gtg>Atg p.V218M B3GNT4_ENST00000546192.1_Missense_Mutation_p.V218M|B3GNT4_ENST00000545141.1_Intron|B3GNT4_ENST00000324189.4_Missense_Mutation_p.V243M Q9C0J1 B3GN4_HUMAN UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4 243 protein glycosylation Golgi membrane|integral to membrane galactosyltransferase activity NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 13 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000297)|Epithelial(86;0.000497)|BRCA - Breast invasive adenocarcinoma(302;0.222) GGACCTCCTGGTGGGAGATGT 0.562000 8 71 0 0 1 0 0 CDX2 1045 broad.mit.edu 37 13 28537263 28537263 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr13:28537263C>T ENST00000381020.7 - 3 3063 c.931G>A c.(931-933)Gtc>Atc p.V311I CDX2_ENST00000548877.1_5'UTR NM_001265.4 NP_001256.3 Q99626 CDX2_HUMAN caudal type homeobox 2 311 organ morphogenesis|transcription from RNA polymerase II promoter sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|large_intestine(1)|lung(6) 9 all_cancers(110;0.191)|all_hematologic(3;0.0447)|Acute lymphoblastic leukemia(6;0.155) Lung SC(185;0.0156) Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105) GBM - Glioblastoma multiforme(144;0.0407)|all cancers(112;0.0491)|OV - Ovarian serous cystadenocarcinoma(117;0.199) CACTGGGTGACGGTGGGGTTT 0.642000 T ETV6 AML 4 47 0 0 1 0 0 LSS 4047 broad.mit.edu 37 21 47635212 47635212 + Splice_Site SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr21:47635212G>A ENST00000397728.3 - 9 971 c.892_splice c.e9-1 p.A298_splice LSS_ENST00000457828.2_Splice_Site_p.A218_splice|LSS_ENST00000356396.4_Splice_Site_p.A298_splice|LSS_ENST00000522411.1_Splice_Site_p.A287_splice NM_001145436.1|NM_002340.5 NP_001138908.1|NP_002331.3 P48449 ERG7_HUMAN lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase) 298 cholesterol biosynthetic process endoplasmic reticulum membrane lanosterol synthase activity cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1) 21 Breast(49;0.214) GTTGAGGAGCGCTACAGGGGA 0.607000 3 23 0 0 1 0 0 MYOM1 8736 broad.mit.edu 37 18 3116340 3116340 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr18:3116340C>A ENST00000400569.3 - 21 3625 c.3292G>T c.(3292-3294)Gta>Tta p.V1098L MYOM1_ENST00000356443.4_Missense_Mutation_p.V1098L|MYOM1_ENST00000261606.7_Missense_Mutation_p.V1002L P52179 MYOM1_HUMAN myomesin 1 1098 Fibronectin type-III 5. striated muscle myosin thick filament structural constituent of muscle NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 TTCAGGTATACGTTTTTAATA 0.478000 4 17 1 1 1 1 0 RALGAPB 57148 broad.mit.edu 37 20 37153516 37153516 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr20:37153516G>T ENST00000262879.6 + 11 1999 c.1715G>T c.(1714-1716)tGc>tTc p.C572F RALGAPB_ENST00000397038.1_Missense_Mutation_p.C350F|RALGAPB_ENST00000397040.1_Missense_Mutation_p.C572F|RALGAPB_ENST00000397042.3_Missense_Mutation_p.C572F Q86X10 RLGPB_HUMAN Ral GTPase activating protein, beta subunit (non-catalytic) 572 activation of Ral GTPase activity intracellular protein heterodimerization activity|Ral GTPase activator activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 65 CCTTTGTTCTGCTGTGACTTG 0.383000 54 91 2.47907e-22 3.72691e-22 1 1 0 KCNV2 169522 broad.mit.edu 37 9 2718610 2718610 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr9:2718610C>A ENST00000382082.3 + 1 1109 c.871C>A c.(871-873)Cag>Aag p.Q291K NM_133497.3 NP_598004.1 Q8TDN2 KCNV2_HUMAN potassium channel, subfamily V, member 2 291 voltage-gated potassium channel complex voltage-gated potassium channel activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2) 35 GBM - Glioblastoma multiforme(50;0.0257) GCACTCGGGGCAGGGCGAGGG 0.687000 10 34 0.00829132 0.008594 1 1 0 UBQLN3 50613 broad.mit.edu 37 11 5529023 5529023 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:5529023C>A ENST00000311659.4 - 2 1913 c.1766G>T c.(1765-1767)gGc>gTc p.G589V HBG2_ENST00000380259.2_Intron NM_017481.2 NP_059509.1 Q9H347 UBQL3_HUMAN ubiquilin 3 589 NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2) 39 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GGAAAGGAAGCCCAGCTCTGC 0.527000 22 66 1.22574e-08 1.47496e-08 1 1 0 ZBTB7C 201501 broad.mit.edu 37 18 45555913 45555913 + Silent SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr18:45555913C>A ENST00000588982.1 - 4 2079 c.1578G>T c.(1576-1578)ccG>ccT p.P526P ZBTB7C_ENST00000535628.2_Silent_p.P526P|ZBTB7C_ENST00000332053.2_Silent_p.P526P|ZBTB7C_ENST00000590800.1_Silent_p.P526P|ZBTB7C_ENST00000586438.1_Silent_p.P526P A1YPR0 ZBT7C_HUMAN zinc finger and BTB domain containing 7C 526 intracellular nucleic acid binding|zinc ion binding endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 23 GGCTGGGGCCCGGGAGGCACA 0.736000 3 15 1 1 1 1 0 SH2D4B 387694 broad.mit.edu 37 10 82363435 82363435 + Silent SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr10:82363435G>A ENST00000339284.2 + 5 1174 c.744G>A c.(742-744)acG>acA p.T248T SH2D4B_ENST00000470604.2_Silent_p.T247T|SH2D4B_ENST00000313455.4_Silent_p.T199T NM_207372.2 NP_997255.2 Q5SQS7 SH24B_HUMAN SH2 domain containing 4B 247 endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6) 13 Colorectal(32;0.229) AGAAGGGCACGGTCGCTGGCC 0.692000 12 31 0 0 1 0 0 TECRL 253017 broad.mit.edu 37 4 65147235 65147235 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr4:65147235G>T ENST00000381210.3 - 10 985 c.875C>A c.(874-876)aCa>aAa p.T292K TECRL_ENST00000507440.1_Missense_Mutation_p.T292K NM_001010874.4 NP_001010874.2 Q5HYJ1 TECRL_HUMAN trans-2,3-enoyl-CoA reductase-like 292 lipid metabolic process cytoplasm|integral to membrane oxidoreductase activity, acting on the CH-CH group of donors endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1) 47 AAACATCCATGTGAAGGGGTT 0.338000 19 50 0.000175454 0.000189843 1 1 0 TRIM15 89870 broad.mit.edu 37 6 30139658 30139658 + Silent SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr6:30139658G>A ENST00000376694.4 + 7 1399 c.930G>A c.(928-930)tcG>tcA p.S310S TRIM15_ENST00000376688.1_Intron NM_033229.2 NP_150232.2 Q9C019 TRI15_HUMAN tripartite motif containing 15 310 B30.2/SPRY. mesodermal cell fate determination intracellular zinc ion binding large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1) 14 TGGTTCTCTCGGAAGACAGGA 0.647000 3 7 0 0 1 0 0 ATP8B5P 158381 broad.mit.edu 37 9 35449713 35449713 + RNA SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr9:35449713G>T ENST00000430846.1 + 0 2563 ACAGAAAATTGTGGAGGTTTT 0.413000 3 19 6.4e-05 6.99725e-05 1 1 0 SEC1P 653677 broad.mit.edu 37 19 49184013 49184013 + RNA SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:49184013C>A ENST00000430145.2 + 0 1100 NR_004401.2 TGGCCTGGTGCCGGGAGAGCA 0.662000 4 14 0.00024832 0.000267138 1 1 0 KCNH2 3757 broad.mit.edu 37 7 150643983 150643983 + Silent SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr7:150643983G>T ENST00000392968.2 - 12 4144 c.3024C>A c.(3022-3024)acC>acA p.T1008T KCNH2_ENST00000262186.5_Silent_p.T1104T|KCNH2_ENST00000330883.4_Silent_p.T764T Q12809 KCNH2_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 2 1104 blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent voltage-gated potassium channel complex delayed rectifier potassium channel activity|two-component sensor activity NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 42 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661) GCGAGTCCAAGGTGAGGGTGG 0.642000 12 92 6.31663e-08 7.5123e-08 1 1 0 FOCAD 54914 broad.mit.edu 37 9 20948342 20948342 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr9:20948342G>T ENST00000380249.1 + 33 4112 c.3748G>T c.(3748-3750)Gac>Tac p.D1250Y FOCAD_ENST00000605086.1_Missense_Mutation_p.D686Y|FOCAD_ENST00000338382.6_Missense_Mutation_p.D1250Y NM_017794.3 NP_060264.3 Q5VW36 K1797_HUMAN focadhesin 1250 integral to membrane binding AAAAGCTGAAGACTTGGGCAG 0.383000 14 33 2.31682e-05 2.55992e-05 1 1 0 TRIM9 114088 broad.mit.edu 37 14 51489588 51489588 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr14:51489588C>A ENST00000298355.3 - 3 2127 c.1006G>T c.(1006-1008)Gcc>Tcc p.A336S TRIM9_ENST00000360392.4_Missense_Mutation_p.A336S|TRIM9_ENST00000338969.5_Missense_Mutation_p.A336S NM_015163.5 NP_055978.4 Q9C026 TRIM9_HUMAN tripartite motif containing 9 336 proteasomal ubiquitin-dependent protein catabolic process cell junction|cytoskeleton|dendrite|synaptic vesicle protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_epithelial(31;0.00418)|Breast(41;0.148) TTGACGCGGGCCAGCAGCTGG 0.557000 34 172 1.06647e-15 1.49133e-15 1 1 0 RYR1 6261 broad.mit.edu 37 19 39034012 39034012 + Silent SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:39034012G>A ENST00000355481.4 + 84 11831 c.11700G>A c.(11698-11700)caG>caA p.Q3900Q RYR1_ENST00000360985.3_Silent_p.Q3900Q|RYR1_ENST00000359596.3_Silent_p.Q3905Q NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 3905 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) TACGGACACAGACAGGGAACA 0.498000 41 112 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9047895 9047895 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:9047895C>A ENST00000397910.4 - 5 33939 c.33736G>T c.(33736-33738)Gca>Tca p.A11246S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 11248 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 ACAGAACTTGCTTCTGTCCCA 0.483000 7 19 2.7689e-08 3.31942e-08 1 1 0 F7 2155 broad.mit.edu 37 13 113771897 113771897 + Silent SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr13:113771897G>T ENST00000375581.3 + 8 827 c.792G>T c.(790-792)ctG>ctT p.L264L F7_ENST00000541084.1_Silent_p.L195L|F7_ENST00000346342.3_Silent_p.L242L NM_000131.4 NP_000122.1 P08709 FA7_HUMAN coagulation factor VII (serum prothrombin conversion accelerator) 264 Peptidase S1. L -> P (in FA7D). anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis endoplasmic reticulum lumen|Golgi lumen|plasma membrane calcium ion binding|glycoprotein binding|serine-type endopeptidase activity large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 16 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188) all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218) Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170) GGAGGAACCTGATCGCGGTGC 0.627000 23 237 4.7796e-09 5.81065e-09 1 1 0 TNN 63923 broad.mit.edu 37 1 175048541 175048541 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:175048541G>T ENST00000239462.4 + 3 595 c.482G>T c.(481-483)aGg>aTg p.R161M NM_022093.1 NP_071376.1 Q9UQP3 TENN_HUMAN tenascin N 161 cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 156 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) GAAGAGGGCAGGGAGGGCCCC 0.701000 8 19 7.48243e-07 8.66895e-07 1 1 0 LRIT1 26103 broad.mit.edu 37 10 85993875 85993875 + Silent SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr10:85993875G>T ENST00000372105.3 - 3 870 c.849C>A c.(847-849)ccC>ccA p.P283P NM_015613.2 NP_056428.1 Q9P2V4 LRIT1_HUMAN leucine-rich repeat, immunoglobulin-like and transmembrane domains 1 283 Ig-like C2-type. integral to endoplasmic reticulum membrane breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1) 23 AGCTCATCTCGGGCCCAGGGA 0.607000 21 49 2.37509e-13 3.1805e-13 1 1 0 SLAMF9 89886 broad.mit.edu 37 1 159922172 159922172 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:159922172C>A ENST00000368093.3 - 3 660 c.544G>T c.(544-546)Ggc>Tgc p.G182C SLAMF9_ENST00000466773.1_5'UTR|SLAMF9_ENST00000368092.3_Intron NM_033438.3 NP_254273.2 Q96A28 SLAF9_HUMAN SLAM family member 9 182 Ig-like C2-type. integral to membrane breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1) 13 all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) AGGACAGGGCCTTCATGGAAT 0.587000 33 196 2.08457e-15 2.90415e-15 1 1 0 BCHE 590 broad.mit.edu 37 3 165547575 165547575 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr3:165547575G>T ENST00000264381.3 - 2 1413 c.1247C>A c.(1246-1248)gCc>gAc p.A416D BCHE_ENST00000540653.1_Intron NM_000055.2 NP_000046.1 P06276 CHLE_HUMAN butyrylcholinesterase 416 choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic endoplasmic reticulum lumen|extracellular space|membrane acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1) 55 Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116) ATCACCCAAGGCCTCACGGTA 0.398000 25 71 4.59853e-10 5.75907e-10 1 1 0 NUP214 8021 broad.mit.edu 37 9 134103669 134103669 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr9:134103669G>A ENST00000359428.5 + 33 6169 c.6025G>A c.(6025-6027)Ggc>Agc p.G2009S NUP214_ENST00000411637.2_Missense_Mutation_p.G1999S|NUP214_ENST00000451030.1_Missense_Mutation_p.G2010S|NUP214_ENST00000483497.2_Missense_Mutation_p.G835S P35658 NU214_HUMAN nucleoporin 214kDa 2009 11 X 3 AA approximate repeats.|11 X 5 AA approximate repeats.|18 X 4 AA approximate repeats.|Pro/Ser/Thr-rich. carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore|nucleoplasm protein binding NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 86 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256) CTCGACGGGAGGCAAAGTGTT 0.632000 T """DEK, SET, ABL1""" """AML, T-ALL""" 9 63 0 0 1 0 0 RFWD2 64326 broad.mit.edu 37 1 176012383 176012383 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:176012383C>A ENST00000367669.3 - 14 2065 c.1551G>T c.(1549-1551)tgG>tgT p.W517C RFWD2_ENST00000308769.8_Missense_Mutation_p.W493C NM_022457.5 NP_071902.2 Q8NHY2 RFWD2_HUMAN ring finger and WD repeat domain 2, E3 ubiquitin protein ligase 517 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest centrosome|cytosol|focal adhesion|nuclear speck protein binding|ubiquitin-protein ligase activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 30 AGTCAACACTCCAACACCTCT 0.393000 30 154 2.70662e-09 3.32473e-09 1 1 0 ST3GAL1 6482 broad.mit.edu 37 8 134474238 134474238 + Splice_Site SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr8:134474238C>A ENST00000319914.5 - 8 1757 c.e8-1 ST3GAL1_ENST00000399640.2_Splice_Site|ST3GAL1_ENST00000522652.1_Splice_Site|ST3GAL1_ENST00000521180.1_Splice_Site Q11201 SIA4A_HUMAN ST3 beta-galactoside alpha-2,3-sialyltransferase 1 protein glycosylation extracellular region|Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,3-sialyltransferase activity endometrium(3)|large_intestine(2)|lung(11)|prostate(1) 17 all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.00721) AGATCAGGATCTGCGGGGATG 0.562000 22 83 2.27731e-05 2.51998e-05 1 1 0 IGSF10 285313 broad.mit.edu 37 3 151154764 151154764 + Nonsense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr3:151154764G>A ENST00000282466.3 - 6 7584 c.7585C>T c.(7585-7587)Cga>Tga p.R2529* MED12L_ENST00000474524.1_3'UTR|IGSF10_ENST00000495443.1_5'UTR NM_001178145.1|NM_001178146.1|NM_178822.4 NP_001171616.1|NP_001171617.1|NP_849144.2 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 2529 Ig-like C2-type 12. cell differentiation|multicellular organismal development|ossification extracellular region NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3) 116 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) TTTGTAATTCGGGGAGGGTAG 0.473000 21 110 0 0 1 0 0 HSF1 3297 broad.mit.edu 37 8 145535024 145535024 + Silent SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr8:145535024C>A ENST00000528838.1 + 6 742 c.582C>A c.(580-582)atC>atA p.I194I HSF1_ENST00000400780.4_Silent_p.I129I NM_005526.2 NP_005517.1 Q00613 HSF1_HUMAN heat shock transcription factor 1 194 Hydrophobic repeat HR-A/B. cytoplasm protein binding|sequence-specific DNA binding transcription factor activity p.I194M(1) endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)|urinary_tract(2) 11 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055) AGTTCCTGATCTCACTGGTGC 0.632000 9 83 0.0581538 0.0590221 1 1 0 KDM5C 8242 broad.mit.edu 37 X 53243952 53243952 + Silent SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chrX:53243952G>A ENST00000452825.3 - 6 1372 c.840C>T c.(838-840)gaC>gaT p.D280D KDM5C_ENST00000375379.3_Silent_p.D347D|KDM5C_ENST00000375383.3_Silent_p.D306D|KDM5C_ENST00000404049.3_Silent_p.D346D|KDM5C_ENST00000375401.3_Silent_p.D347D NM_001146702.1 NP_001140174.1 P41229 KDM5C_HUMAN lysine (K)-specific demethylase 5C 347 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2) 82 TGTGGTAGTTGTCATCACAGC 0.562000 """N, F, S""" clear cell renal carcinoma 6 29 0 0 1 0 0 PSEN2 5664 broad.mit.edu 37 1 227071592 227071592 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:227071592C>T ENST00000366782.1 + 5 927 c.427C>T c.(427-429)Cgc>Tgc p.R143C PSEN2_ENST00000422240.2_Missense_Mutation_p.R110C|PSEN2_ENST00000391872.2_Missense_Mutation_p.R143C|PSEN2_ENST00000340188.4_Missense_Mutation_p.R110C|PSEN2_ENST00000366783.3_Missense_Mutation_p.R110C P49810 PSN2_HUMAN presenilin 2 (Alzheimer disease 4) 110 amyloid precursor protein catabolic process|anti-apoptosis|apoptosis|beta-amyloid metabolic process|calcium ion transport|induction of apoptosis by extracellular signals|intracellular signal transduction|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|Golgi membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear inner membrane|perinuclear region of cytoplasm|Z disc aspartic-type endopeptidase activity|protein binding cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|urinary_tract(1) 20 Prostate(94;0.0771) CAAGTCTGTGCGCTTCTACAC 0.602000 4 189 0 0 1 0 0 ATP6V1F 9296 broad.mit.edu 37 7 128503116 128503116 + Splice_Site SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr7:128503116G>T ENST00000492758.1 + 1 159 c.158_splice c.e1+1 p.R53_splice ATP6V1F_ENST00000249289.4_Splice_Site_p.R53_splice NM_001198909.1 NP_001185838.1 Q16864 VATF_HUMAN ATPase, H+ transporting, lysosomal 14kDa, V1 subunit F 53 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytosol|membrane fraction|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex ATPase activity, uncoupled|hydrogen ion transporting ATP synthase activity, rotational mechanism|protein binding|proton-transporting ATPase activity, rotational mechanism lung(1)|ovary(1)|prostate(1) 3 GACACTTTCCGGTACGGTACC 0.617000 OREG0018299 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 37 61 1.60099e-16 2.26992e-16 1 1 0 EPHX1 2052 broad.mit.edu 37 1 226027005 226027005 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:226027005G>T ENST00000366837.4 + 5 876 c.680G>T c.(679-681)tGg>tTg p.W227L EPHX1_ENST00000272167.5_Missense_Mutation_p.W227L NM_000120.3 NP_000111.1 P07099 HYEP_HUMAN epoxide hydrolase 1, microsomal (xenobiotic) 227 aromatic compound catabolic process|response to toxin endoplasmic reticulum membrane|integral to membrane|microsome cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 28 Breast(184;0.197) GGAGGGGACTGGGGGTCCCTG 0.572000 40 93 6.2361e-21 9.28174e-21 1 1 0 CTSS 1520 broad.mit.edu 37 1 150727551 150727551 + Missense_Mutation SNP A A G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:150727551A>G ENST00000368985.3 - 4 585 c.325T>C c.(325-327)Tca>Cca p.S109P CTSS_ENST00000480760.1_5'UTR|CTSS_ENST00000448301.2_Intron NM_001199739.1|NM_004079.4 NP_001186668.1|NP_004070.3 P25774 CATS_HUMAN cathepsin S 109 immune response|proteolysis extracellular region|lysosome cysteine-type endopeptidase activity cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|urinary_tract(1) 15 all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171) TTAGGGTTTGACTTATATGTG 0.433000 6 196 0 0 1 0 0 WDR44 54521 broad.mit.edu 37 X 117538407 117538407 + Splice_Site SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chrX:117538407G>T ENST00000254029.3 + 9 1776 c.1381_splice c.e9+1 p.V461_splice WDR44_ENST00000371822.5_Splice_Site_p.V436_splice|WDR44_ENST00000371825.3_Splice_Site_p.V461_splice NM_019045.4 NP_061918.3 Q5JSH3 WDR44_HUMAN WD repeat domain 44 461 cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1) 33 TAGAGATGAAGGTGAGTTAAA 0.299000 4 28 0.00909568 0.00937143 1 1 0 SRGAP1 57522 broad.mit.edu 37 12 64509625 64509625 + Nonsense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr12:64509625G>T ENST00000355086.3 + 18 2700 c.2176G>T c.(2176-2178)Gag>Tag p.E726* RP11-196H14.4_ENST00000535806.1_RNA|SRGAP1_ENST00000357825.3_Nonsense_Mutation_p.E703*|SRGAP1_ENST00000543397.1_Nonsense_Mutation_p.E663* NM_020762.2 NP_065813.1 Q7Z6B7 SRGP1_HUMAN SLIT-ROBO Rho GTPase activating protein 1 726 axon guidance cytosol breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 65 GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225) GBM - Glioblastoma multiforme(28;0.0608) CGGTACATTGGAGGAAGTGGA 0.398000 11 13 1.61879e-10 2.04676e-10 1 1 0 NKX2-2 4821 broad.mit.edu 37 20 21492653 21492653 + Missense_Mutation SNP G G A rs145819196 TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr20:21492653G>A ENST00000377142.4 - 2 1086 c.730C>T c.(730-732)Cac>Tac p.H244Y NKX2-2-AS1_ENST00000549659.1_RNA NM_002509.3 NP_002500.1 O95096 NKX22_HUMAN NK2 homeobox 2 244 brain development|positive regulation of sequence-specific DNA binding transcription factor activity nucleus chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 21 TACTGCATGTGCTGCAGCGAC 0.662000 50 38 0 0 1 0 0 APOA4 337 broad.mit.edu 37 11 116692268 116692268 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:116692268C>A ENST00000357780.3 - 3 620 c.506G>T c.(505-507)cGg>cTg p.R169L NM_000482.3 NP_000473.2 apolipoprotein A-IV p.R169L(1) cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 20 all_hematologic(175;0.0487) Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148) GGCGTTCTCCCGCAGCACTCT 0.687000 36 111 2.48696e-23 3.76654e-23 1 1 0 RALGAPA2 57186 broad.mit.edu 37 20 20486180 20486180 + Splice_Site SNP T T A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr20:20486180T>A ENST00000202677.6 - 34 5071 c.e34-2 NM_020343.3 NP_065076.2 Q2PPJ7 RGPA2_HUMAN Ral GTPase activating protein, alpha subunit 2 (catalytic) activation of Ral GTPase activity cytosol|nucleus protein heterodimerization activity|Ral GTPase activator activity endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 54 GTCTCACGGCTATAAATTTTT 0.338000 3 7 0 0 1 0 0 OR4C11 219429 broad.mit.edu 37 11 55371492 55371492 + Missense_Mutation SNP G G A rs139149255 byFrequency TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:55371492G>A ENST00000302231.4 - 1 382 c.358C>T c.(358-360)Cgc>Tgc p.R120C NM_001004700.2 NP_001004700.2 Q6IEV9 OR4CB_HUMAN olfactory receptor, family 4, subfamily C, member 11 120 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R120C(1) endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1) 33 GCCACATAGCGATCAACAGCC 0.433000 23 62 0 0 1 0 0 RAI2 10742 broad.mit.edu 37 X 17819691 17819691 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chrX:17819691G>T ENST00000545871.1 - 3 900 c.440C>A c.(439-441)tCc>tAc p.S147Y RAI2_ENST00000360011.1_Missense_Mutation_p.S147Y|RAI2_ENST00000415486.3_Missense_Mutation_p.S97Y|RAI2_ENST00000451717.1_Missense_Mutation_p.S147Y|RAI2_ENST00000331511.1_Missense_Mutation_p.S147Y NM_001172739.1|NM_001172743.1 NP_001166210.1|NP_001166214.1 Q9Y5P3 RAI2_HUMAN retinoic acid induced 2 147 embryo development breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1) 22 Hepatocellular(33;0.183) GGTACTGGAGGAGCATGGGGC 0.672000 16 109 1.33834e-09 1.65576e-09 1 1 0 TF 7018 broad.mit.edu 37 3 133485249 133485249 + Silent SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr3:133485249C>A ENST00000402696.3 + 12 1943 c.1458C>A c.(1456-1458)ctC>ctA p.L486L TF_ENST00000264998.3_Silent_p.L359L NM_001063.3 NP_001054.1 P02787 TRFE_HUMAN transferrin 486 Transferrin-like 2. cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule ferric iron binding NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893) TGGGCCTGCTCTACAATAAGA 0.537000 64 146 9.40535e-28 1.45591e-27 1 1 0 BCORL1 63035 broad.mit.edu 37 X 129149755 129149755 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chrX:129149755C>A ENST00000540052.1 + 3 3051 c.3007C>A c.(3007-3009)Ctg>Atg p.L1003M BCORL1_ENST00000303743.5_Missense_Mutation_p.L1003M|BCORL1_ENST00000359304.2_Missense_Mutation_p.L1003M|BCORL1_ENST00000218147.7_Missense_Mutation_p.L1003M NM_021946.4 NP_068765.3 Q5H9F3 BCORL_HUMAN BCL6 corepressor-like 1 1003 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 75 CCCCCAGAACCTGCCTAAGAT 0.597000 38 101 5.73237e-09 6.94635e-09 1 1 0 PROM2 150696 broad.mit.edu 37 2 95941728 95941728 + Silent SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr2:95941728C>T ENST00000317620.9 + 3 478 c.345C>T c.(343-345)ctC>ctT p.L115L PROM2_ENST00000403131.2_Silent_p.L115L|PROM2_ENST00000463580.1_Intron|PROM2_ENST00000542147.1_Silent_p.L115L|PROM2_ENST00000317668.4_Silent_p.L115L NM_001165978.1 NP_001159450.1 Q8N271 PROM2_HUMAN prominin 2 115 apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1) 32 TCGCGGGCCTCTACCTGCTGC 0.697000 11 21 0 0 1 0 0 CLEC9A 283420 broad.mit.edu 37 12 10215689 10215689 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr12:10215689C>A ENST00000355819.1 + 7 968 c.355C>A c.(355-357)Cag>Aag p.Q119K NM_207345.2 NP_997228.1 Q6UXN8 CLC9A_HUMAN C-type lectin domain family 9, member A 119 positive regulation of cytokine secretion|receptor-mediated endocytosis cell surface|integral to membrane receptor activity|sugar binding breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1) 22 CAATTGGATTCAGAACAGAGA 0.343000 26 79 7.68411e-24 1.16851e-23 1 1 0 PAPPA2 60676 broad.mit.edu 37 1 176738906 176738906 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:176738906C>A ENST00000367662.3 + 16 5651 c.4487C>A c.(4486-4488)cCa>cAa p.P1496Q NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 1496 Sushi 2. cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 TGTGTCCCACCAGCCAAGCTG 0.512000 35 161 6.29468e-14 8.5311e-14 1 1 0 PHRF1 57661 broad.mit.edu 37 11 609112 609112 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:609112G>A ENST00000264555.5 + 14 3784 c.3656G>A c.(3655-3657)aGg>aAg p.R1219K PHRF1_ENST00000533464.1_Missense_Mutation_p.R1215K|PHRF1_ENST00000413872.2_Missense_Mutation_p.R1217K|PHRF1_ENST00000416188.2_Missense_Mutation_p.R1218K NM_020901.2 NP_065952.2 Q9P1Y6 PHRF1_HUMAN PHD and ring finger domains 1 1219 RNA polymerase binding|zinc ion binding breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2) 28 CTCCCCACCAGGTTGCCAGCC 0.692000 11 18 0 0 1 0 0 ZNF280A 129025 broad.mit.edu 37 22 22869652 22869652 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr22:22869652C>T ENST00000302097.3 - 2 555 c.303G>A c.(301-303)atG>atA p.M101I NM_080740.3 NP_542778.1 P59817 Z280A_HUMAN zinc finger protein 280A 101 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.M101I(1) endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 18 all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17) all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22) READ - Rectum adenocarcinoma(21;0.145) GAGAAACGGGCATGATGGCTT 0.473000 12 161 0 0 1 0 0 TPTE 7179 broad.mit.edu 37 21 10934047 10934047 + Silent SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr21:10934047G>A ENST00000298232.7 - 15 1243 c.876C>T c.(874-876)ccC>ccT p.P292P TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Silent_p.P310P|TPTE_ENST00000342420.5_Silent_p.P272P NM_199259.2 NP_954868.1 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 310 Phosphatase tensin-type. signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) ACTGTAGAGTGGGGACATTAT 0.299000 20 120 0 0 1 0 0 PSMD11 5717 broad.mit.edu 37 17 30807770 30807770 + Splice_Site SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr17:30807770G>T ENST00000261712.3 + 14 1532 c.e14-1 PSMD11_ENST00000457654.2_3'UTR NM_001270482.1|NM_002815.3 NP_001257411.1|NP_002806.2 O00231 PSD11_HUMAN proteasome (prosome, macropain) 26S subunit, non-ATPase, 11 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction proteasome complex protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 19 Breast(31;0.159)|Ovarian(249;0.182) BRCA - Breast invasive adenocarcinoma(9;0.109) TTCTCTTGCAGAGTTGGATCT 0.502000 4 5 0.00024832 0.000267138 1 1 0 GPKOW 27238 broad.mit.edu 37 X 48972243 48972243 + Splice_Site SNP A A T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chrX:48972243A>T ENST00000156109.5 - 8 1219 c.e8+1 NM_015698.4 NP_056513.2 Q92917 GPKOW_HUMAN G patch domain and KOW motifs nucleus nucleic acid binding breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(2) 21 CAGGGTTCCCACCTTGGTGTT 0.557000 4 31 0 0 1 0 0 CEACAM4 1089 broad.mit.edu 37 19 42125995 42125995 + Silent SNP G G A rs1126455 TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:42125995G>A ENST00000600925.1 - 6 821 c.711C>T c.(709-711)ccC>ccT p.P237P CEACAM4_ENST00000221954.2_Intron O75871 CEAM4_HUMAN carcinoembryonic antigen-related cell adhesion molecule 4 0 integral to plasma membrane|membrane fraction NS(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|skin(3)|urinary_tract(1) 16 GGCAGATCCTGGGTCCCCTGG 0.617000 3 13 0 0 1 0 0 MCOLN2 255231 broad.mit.edu 37 1 85403456 85403456 + Silent SNP T T C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:85403456T>C ENST00000370608.3 - 11 1384 c.1317A>G c.(1315-1317)ttA>ttG p.L439L MCOLN2_ENST00000531325.1_5'UTR|MCOLN2_ENST00000284027.5_Silent_p.L411L NM_153259.2 NP_694991.2 Q8IZK6 MCLN2_HUMAN mucolipin 2 439 integral to membrane ion channel activity NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2) 18 all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217) GGTATGGTCCTAAGACAATCC 0.468000 12 60 0 0 1 0 0 RASL10B 91608 broad.mit.edu 37 17 34068119 34068119 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr17:34068119G>A ENST00000268864.3 + 4 784 c.407G>A c.(406-408)cGc>cAc p.R136H NM_033315.3 NP_201572.1 Q96S79 RSLAB_HUMAN RAS-like, family 10, member B 136 Small GTPase-like. small GTPase mediated signal transduction plasma membrane GTP binding|GTPase activity breast(2)|endometrium(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 10 UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) CAGCGCGGACGCGTGATCCCG 0.622000 9 66 0 0 1 0 0 LOC643733 643733 broad.mit.edu 37 11 104774272 104774272 + RNA SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:104774272G>A ENST00000532510.1 - 0 3264 TCAAATGCTTGCTGAACCTGA 0.423000 9 18 0 0 1 0 0 MYLK 4638 broad.mit.edu 37 3 123359146 123359146 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr3:123359146C>A ENST00000360772.3 - 29 5203 c.4825G>T c.(4825-4827)Gcc>Tcc p.A1609S MYLK_ENST00000359169.1_Missense_Mutation_p.A1609S|MYLK-AS1_ENST00000485162.1_RNA|MYLK_ENST00000475616.1_Missense_Mutation_p.A1609S|MYLK_ENST00000360304.3_Missense_Mutation_p.A1609S|MYLK_ENST00000346322.5_Missense_Mutation_p.A1540S|MYLK_ENST00000354792.5_Missense_Mutation_p.A409S Q15746 MYLK_HUMAN myosin light chain kinase 1609 Protein kinase. A -> P (in Ref. 1; CAA59685). aorta smooth muscle tissue morphogenesis|muscle contraction cytosol actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 113 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) AGCCTCCTGGCCAGACCAAAG 0.547000 23 68 2.39556e-15 3.32503e-15 1 1 0 CDK18 5129 broad.mit.edu 37 1 205495240 205495240 + Silent SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:205495240C>T ENST00000360066.2 + 6 805 c.504C>T c.(502-504)aaC>aaT p.N168N CDK18_ENST00000506784.1_Silent_p.N198N|CDK18_ENST00000429964.2_Silent_p.N168N|CDK18_ENST00000509056.1_3'UTR NM_002596.3|NM_212502.2|NM_212503.2 NP_002587.2|NP_997667.1|NP_997668.1 Q07002 CDK18_HUMAN cyclin-dependent kinase 18 166 Protein kinase. ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity breast(2)|endometrium(2)|large_intestine(2)|lung(10)|stomach(2)|urinary_tract(1) 19 TGACGGAGAACCTTGTGGCCC 0.647000 11 31 0 0 1 0 0 ACTN2 88 broad.mit.edu 37 1 236850094 236850094 + Missense_Mutation SNP A A G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:236850094A>G ENST00000366578.4 + 1 287 c.121A>G c.(121-123)Agg>Ggg p.R41G ACTN2_ENST00000542672.1_Missense_Mutation_p.R41G|ACTN2_ENST00000492634.1_3'UTR NM_001103.2|NM_001278343.1 NP_001094.1|NP_001265272.1 P35609 ACTN2_HUMAN actinin, alpha 2 41 Actin-binding.|CH 1. focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3) 86 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174) OV - Ovarian serous cystadenocarcinoma(106;0.00168) GAAGCAGCAGAGGAAGGTCAG 0.711000 6 21 0 0 1 0 0 DDX39B 7919 broad.mit.edu 37 6 31498831 31498831 + Splice_Site SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr6:31498831C>T ENST00000417556.2 - 10 1796 c.1167_splice c.e10+1 p.R389_splice DDX39B_ENST00000396172.1_Splice_Site_p.R374_splice|DDX39B_ENST00000458640.1_Splice_Site_p.R374_splice|DDX39B_ENST00000376177.2_Splice_Site_p.R374_splice|ATP6V1G2-DDX39B_ENST00000376185.1_3'UTR|DDX39B_ENST00000415382.2_Splice_Site_p.R296_splice Q13838 DX39B_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B 374 Helicase C-terminal. intronless viral mRNA export from host nucleus|RNA secondary structure unwinding|spliceosome assembly nuclear speck|spliceosomal complex|transcription export complex ATP binding|ATP-dependent protein binding|ATP-dependent RNA helicase activity|identical protein binding|U4 snRNA binding|U6 snRNA binding NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 19 GAGGTTTACCCGATGCAGGTA 0.478000 4 45 0 0 1 0 0 ZFHX4 79776 broad.mit.edu 37 8 77618582 77618582 + Silent SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr8:77618582C>T ENST00000521891.2 + 2 2707 c.2259C>T c.(2257-2259)tgC>tgT p.C753C ZFHX4_ENST00000050961.6_Silent_p.C753C|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000455469.2_Silent_p.C753C|ZFHX4_ENST00000518282.1_Silent_p.C753C NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 753 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) TCAGTGGCTGCGGAACACCCT 0.527000 HNSCC(33;0.089) 3 27 0 0 1 0 0 PLCH2 9651 broad.mit.edu 37 1 2430189 2430189 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:2430189G>T ENST00000449969.1 + 18 2436 c.2275G>T c.(2275-2277)Gac>Tac p.D759Y PLCH2_ENST00000419816.2_Missense_Mutation_p.D786Y|PLCH2_ENST00000378486.3_Missense_Mutation_p.D786Y|PLCH2_ENST00000288766.5_Missense_Mutation_p.D74Y|PLCH2_ENST00000378488.3_Missense_Mutation_p.D750Y|PLCH2_ENST00000378483.2_3'UTR O75038 PLCH2_HUMAN phospholipase C, eta 2 786 C2. intracellular signal transduction|lipid catabolic process cytoplasm|plasma membrane calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1) 20 all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634) all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217) Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2) CCAGATCATCGACCCCTTTGT 0.697000 12 19 1.49906e-05 1.66537e-05 1 1 0 RIC3 79608 broad.mit.edu 37 11 8159832 8159832 + Silent SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:8159832G>T ENST00000343202.4 - 3 479 c.414C>A c.(412-414)acC>acA p.T138T RIC3_ENST00000425599.2_Silent_p.T138T|RIC3_ENST00000309737.6_Silent_p.T138T|RIC3_ENST00000335425.7_Intron|RIC3_ENST00000530060.1_5'UTR|RIC3_ENST00000539720.1_Silent_p.T89T NM_001206671.2|NM_024557.4 NP_001193600.1|NP_078833.3 Q7Z5B4 RIC3_HUMAN RIC3 acetylcholine receptor chaperone 138 endoplasmic reticulum membrane|Golgi membrane|integral to membrane breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1) 17 Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204) TTTTCCTGTGGGTGTTTCCAG 0.433000 43 221 3.4345e-17 4.913e-17 1 1 0 SUN1 23353 broad.mit.edu 37 7 881655 881655 + Silent SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr7:881655C>A ENST00000456758.2 + 6 513 c.513C>A c.(511-513)tcC>tcA p.S171S SUN1_ENST00000401592.1_Silent_p.S113S|SUN1_ENST00000457378.2_Silent_p.S134S|SUN1_ENST00000425407.2_Silent_p.S63S|SUN1_ENST00000405266.1_Silent_p.S113S|SUN1_ENST00000452783.2_Silent_p.S113S|SUN1_ENST00000469755.1_3'UTR|SUN1_ENST00000389574.3_Silent_p.S63S|SUN1_ENST00000403868.1_Silent_p.S113S O94901 SUN1_HUMAN Sad1 and UNC84 domain containing 1 113 cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane integral to membrane|nuclear inner membrane|SUN-KASH complex protein binding NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 AGGTCACGTCCTCTGGCGTCA 0.498000 26 25 7.38237e-10 9.18904e-10 1 1 0 MPP2 4355 broad.mit.edu 37 17 41957260 41957260 + Missense_Mutation SNP G G A rs149328604 by1000genomes TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr17:41957260G>A ENST00000269095.4 - 11 1547 c.1243C>T c.(1243-1245)Cgc>Tgc p.R415C MPP2_ENST00000518766.1_Missense_Mutation_p.R460C|MPP2_ENST00000520305.1_Missense_Mutation_p.R276C|MPP2_ENST00000377184.3_Missense_Mutation_p.R432C|MPP2_ENST00000461854.1_Missense_Mutation_p.R439C|MPP2_ENST00000536246.1_Missense_Mutation_p.R404C|MPP2_ENST00000523501.1_Missense_Mutation_p.R404C NM_001278370.1|NM_001278381.1|NM_005374.3 NP_001265299.1|NP_001265310.1|NP_005365.3 Q14168 MPP2_HUMAN membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2) 439 Guanylate kinase-like. signal transduction cell surface|integral to plasma membrane|membrane fraction guanylate kinase activity breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1) 29 Breast(137;0.00314) BRCA - Breast invasive adenocarcinoma(366;0.12) TCCAGGTAGCGCCCAGCACGG 0.627000 OREG0024443 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 90 0 0 1 0 0 ARX 170302 broad.mit.edu 37 X 25028386 25028386 + Silent SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chrX:25028386G>T ENST00000379044.4 - 3 1320 c.1110C>A c.(1108-1110)gcC>gcA p.A370A NM_139058.2 NP_620689.1 Q96QS3 ARX_HUMAN aristaless related homeobox 370 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity kidney(1)|large_intestine(2)|lung(1) 4 CCTGGACTCGGGCCTCGGTCA 0.627000 9 22 0.000442599 0.00047184 1 1 0 TNKS1BP1 85456 broad.mit.edu 37 11 57076593 57076593 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:57076593G>T ENST00000532437.1 - 5 3903 c.3592C>A c.(3592-3594)Ctg>Atg p.L1198M TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.L1198M Q9C0C2 TB182_HUMAN tankyrase 1 binding protein 1, 182kDa 1198 Acidic.|Gly-rich. nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase cytoskeleton|cytosol|nuclear telomeric heterochromatin ankyrin binding|enzyme binding breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 all_epithelial(135;0.21) CTCAAGCTCAGGCCACCTGAC 0.602000 25 209 5.61819e-17 8.01628e-17 1 1 0 CFAP54 144535 broad.mit.edu 37 12 97051859 97051859 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr12:97051859C>A ENST00000524981.3 + 4 653 c.653C>A c.(652-654)gCc>gAc p.A218D Q6ZTY8 CL063_HUMAN 192 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 GTATCTCTTGCCATTCAGTTC 0.313000 19 65 8.00594e-06 8.98315e-06 1 1 0 ERRFI1 54206 broad.mit.edu 37 1 8074322 8074322 + Missense_Mutation SNP A A G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:8074322A>G ENST00000377482.5 - 4 560 c.337T>C c.(337-339)Tgt>Cgt p.C113R ERRFI1_ENST00000469499.1_3'UTR|ERRFI1_ENST00000474874.1_Intron|ERRFI1_ENST00000467067.1_3'UTR NM_018948.3 NP_061821.1 Q9UJM3 ERRFI_HUMAN ERBB receptor feedback inhibitor 1 113 lung alveolus development|lung epithelium development|lung vasculature development|negative regulation of epidermal growth factor receptor activity|negative regulation of protein autophosphorylation|regulation of keratinocyte differentiation|response to stress|skin morphogenesis cytoplasm|extrinsic to internal side of plasma membrane|nucleus protein kinase binding|Rho GTPase activator activity breast(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(3)|ovary(1)|prostate(1)|skin(2) 16 Ovarian(185;0.06)|all_lung(157;0.151) all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.33e-70)|GBM - Glioblastoma multiforme(8;8.05e-37)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;6.9e-06)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642) TTAAAACCACATACAACTTGA 0.478000 34 152 0 0 1 0 0 ATPAF1 64756 broad.mit.edu 37 1 47124383 47124383 + Silent SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:47124383C>T ENST00000576409.1 - 3 533 c.471G>A c.(469-471)gtG>gtA p.V157V ATPAF1_ENST00000532925.1_Silent_p.V46V|ATPAF1_ENST00000329231.4_Silent_p.V157V|EFCAB14_ENST00000544071.1_Silent_p.*419*|ATPAF1_ENST00000371937.4_Silent_p.V134V|ATPAF1_ENST00000542495.1_5'UTR|ATPAF1_ENST00000574428.1_Silent_p.V134V|ATPAF1_ENST00000525633.1_5'UTR Q5TC12 ATPF1_HUMAN ATP synthase mitochondrial F1 complex assembly factor 1 134 protein complex assembly mitochondrion protein binding endometrium(1)|kidney(1)|large_intestine(2)|lung(4) 8 Acute lymphoblastic leukemia(166;0.155) ATCCTCTGTTCACAGACTGTT 0.348000 7 52 0 0 1 0 0 AKR7A2 8574 broad.mit.edu 37 1 19630866 19630866 + Silent SNP G G A rs147497678 TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:19630866G>A ENST00000235835.3 - 7 954 c.933C>T c.(931-933)gaC>gaT p.D311D NM_003689.3 NP_003680.2 O43488 ARK72_HUMAN aldo-keto reductase family 7, member A2 (aflatoxin aldehyde reductase) 311 carbohydrate metabolic process|cellular aldehyde metabolic process Golgi apparatus alditol:NADP+ 1-oxidoreductase activity|electron carrier activity central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 9 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00461)|BRCA - Breast invasive adenocarcinoma(304;1.83e-05)|Kidney(64;0.000167)|GBM - Glioblastoma multiforme(114;0.00115)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) GGATGACCGCGTCCCCGTGGG 0.632000 22 128 0 0 1 0 0 IGLV3-10 28803 broad.mit.edu 37 22 23154502 23154502 + RNA SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr22:23154502C>A ENST00000390315.2 + 0 106 TATGAGCTGACACAGCCACCC 0.537000 85 104 2.06477e-34 3.27298e-34 1 1 0 DACT1 51339 broad.mit.edu 37 14 59113434 59113434 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr14:59113434G>A ENST00000395153.3 + 4 2129 c.1982G>A c.(1981-1983)cGc>cAc p.R661H DACT1_ENST00000335867.4_Missense_Mutation_p.R698H|DACT1_ENST00000395151.3_Missense_Mutation_p.R417H|DACT1_ENST00000556859.1_Missense_Mutation_p.R417H|DACT1_ENST00000541264.2_Missense_Mutation_p.R417H NM_001079520.1|NM_016651.5 NP_001072988.1|NP_057735.2 Q9NYF0 DACT1_HUMAN dishevelled-binding antagonist of beta-catenin 1 698 multicellular organismal development|Wnt receptor signaling pathway cytoplasm|nucleus endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 53 CGGCGCGGTCGCCGGGAGAAT 0.667000 20 53 0 0 1 0 0 ARHGEF11 9826 broad.mit.edu 37 1 156911756 156911756 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:156911756C>A ENST00000368194.3 - 34 4391 c.3352G>T c.(3352-3354)Gtg>Ttg p.V1118L ARHGEF11_ENST00000487682.1_5'UTR|ARHGEF11_ENST00000315174.8_Missense_Mutation_p.V494L|ARHGEF11_ENST00000361409.2_Missense_Mutation_p.V1078L NM_198236.2 NP_937879.1 O15085 ARHGB_HUMAN Rho guanine nucleotide exchange factor (GEF) 11 1078 actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction cytosol|Golgi apparatus|plasma membrane G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2) 81 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) GCATTCCGCACGGCCTCTTCT 0.652000 28 108 2.46105e-21 3.67275e-21 1 1 0 ACCS 84680 broad.mit.edu 37 11 44099448 44099448 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:44099448G>A ENST00000263776.8 + 8 1142 c.708G>A c.(706-708)atG>atA p.M236I NM_001127219.1|NM_032592.3 NP_001120691.1|NP_115981.1 Q96QU6 1A1L1_HUMAN 1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional) 236 1-aminocyclopropane-1-carboxylate synthase activity|protein homodimerization activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups breast(4)|endometrium(3)|large_intestine(11)|lung(15)|ovary(1)|skin(1) 35 AGCTGGAGATGGCCCTGAGAG 0.567000 4 20 0 0 1 0 0 C6orf15 29113 broad.mit.edu 37 6 31079509 31079509 + Nonsense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr6:31079509C>T ENST00000259870.3 - 2 630 c.627G>A c.(625-627)tgG>tgA p.W209* NM_014070.2 NP_054789.2 Q6UXA7 CF015_HUMAN chromosome 6 open reading frame 15 209 p.W209C(1) endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|stomach(1) 17 TCAGGGTACCCCAGGGGTGAT 0.602000 19 15 0 0 1 0 0 LEF1 51176 broad.mit.edu 37 4 109000650 109000650 + Silent SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr4:109000650G>A ENST00000379951.2 - 6 1947 c.759C>T c.(757-759)caC>caT p.H253H LEF1_ENST00000265165.1_Silent_p.H281H|LEF1_ENST00000438313.2_Silent_p.H253H|LEF1_ENST00000510624.1_Silent_p.H185H NM_001130713.2|NM_001130714.2 NP_001124185.1|NP_001124186.1 Q9UJU2 LEF1_HUMAN lymphoid enhancer-binding factor 1 281 Pro-rich. canonical Wnt receptor signaling pathway|cell chemotaxis|cellular response to interleukin-4|epithelial to mesenchymal transition|histone H3 acetylation|histone H4 acetylation|negative regulation of apoptosis in bone marrow|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell-cell adhesion|negative regulation of DNA binding|negative regulation of estrogen receptor binding|negative regulation of interleukin-13 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of transcription, DNA-dependent|neutrophil differentiation|osteoblast differentiation|palate development|positive regulation by host of viral transcription|positive regulation of cell cycle process|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cell proliferation in bone marrow|positive regulation of cell-cell adhesion|positive regulation of epithelial to mesenchymal transition|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|T-helper 1 cell differentiation cytoplasm|protein-DNA complex|transcription factor complex armadillo repeat domain binding|beta-catenin binding|C2H2 zinc finger domain binding|caspase inhibitor activity|DNA bending activity|enhancer binding|estrogen receptor activity|estrogen receptor binding|gamma-catenin binding|histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1) 25 OV - Ovarian serous cystadenocarcinoma(123;0.000224) ATACTTACACGTGCATTAGGT 0.512000 8 72 0 0 1 0 0 CLTCL1 8218 broad.mit.edu 37 22 19196445 19196445 + Silent SNP T T C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr22:19196445T>C ENST00000263200.10 - 21 3501 c.3429A>G c.(3427-3429)tcA>tcG p.S1143S CLTCL1_ENST00000427926.1_Silent_p.S1143S|CLTCL1_ENST00000353891.5_Silent_p.S1143S NM_007098.3 NP_009029.3 P53675 CLH2_HUMAN clathrin, heavy chain-like 1 1143 Heavy chain arm.|Proximal segment. anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network protein binding|signal transducer activity|structural molecule activity breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 Colorectal(54;0.0993) TCCTGCTGGCTGACTGAACAA 0.512000 T ? ALCL 9 8 0 0 1 0 0 TAF1 6872 broad.mit.edu 37 X 70586259 70586259 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chrX:70586259G>T ENST00000449580.1 + 1 146 c.95G>T c.(94-96)gGa>gTa p.G32V TAF1_ENST00000373790.4_Missense_Mutation_p.G32V|TAF1_ENST00000276072.3_Missense_Mutation_p.G32V|TAF1_ENST00000423759.1_Missense_Mutation_p.G32V P21675 TAF1_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa 32 Protein kinase 1. G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction MLL1 complex|transcription factor TFIID complex ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 124 Renal(35;0.156) all_lung(315;0.000321) GATTCCGCTGGAGGCGGCCCA 0.602000 18 56 0.000132079 0.000143812 1 1 0 KLC4 89953 broad.mit.edu 37 6 43030855 43030855 + Silent SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr6:43030855G>A ENST00000394056.2 + 4 954 c.459G>A c.(457-459)ctG>ctA p.L153L KLC4_ENST00000394058.1_Silent_p.L153L|KLC4_ENST00000259708.3_Silent_p.L171L|KLC4_ENST00000347162.5_Silent_p.L153L|KLC4_ENST00000458460.2_Silent_p.L153L|KLC4_ENST00000453940.2_Intron|KLC4_ENST00000479388.1_Silent_p.L153L Q9NSK0 KLC4_HUMAN kinesin light chain 4 153 cytoplasm|kinesin complex|microtubule microtubule motor activity|protein binding endometrium(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(4) 23 all cancers(41;0.00169)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0376)|KIRC - Kidney renal clear cell carcinoma(2;0.0453) TGGGGCAGCTGCGGCAGTATG 0.617000 16 43 0 0 1 0 0 SLC37A2 219855 broad.mit.edu 37 11 124955548 124955548 + Missense_Mutation SNP C C G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:124955548C>G ENST00000403796.2 + 16 1704 c.1403C>G c.(1402-1404)tCt>tGt p.S468C SLC37A2_ENST00000525837.1_3'UTR|SLC37A2_ENST00000308074.4_Missense_Mutation_p.S468C|SLC37A2_ENST00000298280.5_3'UTR|SLC37A2_ENST00000407458.1_Missense_Mutation_p.S468C NM_001145290.1 NP_001138762.1 Q8TED4 SPX2_HUMAN solute carrier family 37 (glucose-6-phosphate transporter), member 2 468 carbohydrate transport|transmembrane transport integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1) 27 all_hematologic(175;0.215) Breast(109;0.012)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.152)|all_lung(97;0.159)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0384) ATGCTCATCTCTGCCGACGTC 0.587000 17 91 0 0 1 0 0 PCDH15 65217 broad.mit.edu 37 10 55780176 55780176 + Splice_Site SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr10:55780176C>A ENST00000373965.2 - 21 2942 c.2547_splice c.e21-1 p.A850_splice PCDH15_ENST00000395430.1_Splice_Site_p.A843_splice|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395445.1_Splice_Site_p.A850_splice|PCDH15_ENST00000395432.2_Splice_Site_p.A806_splice|PCDH15_ENST00000395438.1_Splice_Site_p.A843_splice|PCDH15_ENST00000373955.1_Splice_Site_p.A843_splice|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000409834.1_Splice_Site_p.A454_splice|PCDH15_ENST00000320301.6_Splice_Site_p.A843_splice|PCDH15_ENST00000414778.1_Splice_Site_p.A848_splice|PCDH15_ENST00000437009.1_Splice_Site_p.A772_splice|PCDH15_ENST00000361849.3_Splice_Site_p.A843_splice|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395433.1_Splice_Site_p.A821_splice|PCDH15_ENST00000395440.1_Intron NM_001142771.1|NM_001142772.1 NP_001136243.1|NP_001136244.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 843 Cadherin 8. equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) ACATCTTTGGCCTGTAATAAG 0.408000 HNSCC(58;0.16) 42 105 2.35958e-20 3.49574e-20 1 1 0 PPP1R3A 5506 broad.mit.edu 37 7 113519960 113519960 + Nonsense_Mutation SNP G G C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr7:113519960G>C ENST00000284601.3 - 4 1255 c.1187C>G c.(1186-1188)tCa>tGa p.S396* NM_002711.3 NP_002702.2 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory subunit 3A 396 glycogen metabolic process integral to membrane NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2) 121 GTCATCTCCTGAGGAATATTT 0.398000 64 84 0 0 1 0 0 MXRA8 54587 broad.mit.edu 37 1 1290110 1290110 + Frame_Shift_Del DEL G G - TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:1290110delG ENST00000309212.6 - 5 931 c.901delC c.(901-903)ggfs p.R301fs MXRA8_ENST00000342753.4_Frame_Shift_Del_p.R200fs|MXRA8_ENST00000445648.2_Frame_Shift_Del_p.R301fs NM_032348.2 NP_115724.1 Q9BRK3 MXRA8_HUMAN matrix-remodelling associated 8 301 integral to membrane central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(3) 7 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145) GGAGAGCCCCGGGGGGGCGGC 0.741 15 22 --- --- --- --- ACOT7 11332 broad.mit.edu 37 1 6409878 6409878 + Frame_Shift_Del DEL C C - TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:6409878delC ENST00000361521.4 - 2 1183 c.192delG c.(190-192)ggfs p.G64fs ACOT7_ENST00000545482.1_Intron|ACOT7_ENST00000377855.2_Frame_Shift_Del_p.G74fs|ACOT7_ENST00000541130.1_Frame_Shift_Del_p.G44fs|ACOT7_ENST00000377842.3_Frame_Shift_Del_p.G23fs|ACOT7_ENST00000377845.3_Frame_Shift_Del_p.G44fs NM_007274.3 NP_009205.3 O00154 BACH_HUMAN acyl-CoA thioesterase 7 74 Acyl coenzyme A hydrolase 1. mitochondrion|nucleus carboxylesterase activity|fatty-acyl-CoA binding|palmitoyl-CoA hydrolase activity kidney(1)|large_intestine(3)|lung(10)|pancreas(1)|prostate(1) 16 Ovarian(185;0.0634)|all_lung(157;0.175) all_cancers(23;1.42e-38)|all_epithelial(116;3.96e-23)|all_lung(118;3.69e-08)|Lung NSC(185;8.52e-07)|all_hematologic(16;6.92e-06)|Colorectal(325;4.53e-05)|Acute lymphoblastic leukemia(12;5e-05)|all_neural(13;0.000164)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211) Epithelial(90;9.16e-37)|GBM - Glioblastoma multiforme(13;5.89e-29)|OV - Ovarian serous cystadenocarcinoma(86;7.63e-19)|Colorectal(212;1.27e-07)|COAD - Colon adenocarcinoma(227;2.06e-05)|Kidney(185;7.74e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00129)|BRCA - Breast invasive adenocarcinoma(365;0.00132)|STAD - Stomach adenocarcinoma(132;0.00195)|READ - Rectum adenocarcinoma(331;0.0481) TCAGGATGGTCCCCCCGTGGA 0.617 10 57 --- --- --- --- AGO1 26523 broad.mit.edu 37 1 36354045 36354045 + Frame_Shift_Del DEL C C - TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:36354045delC ENST00000373204.4 + 2 256 c.43delC c.(43-45)ccfs p.P16fs AGO1_ENST00000373206.1_5'UTR NM_012199.2 NP_036331.1 argonaute RISC catalytic component 1 CGCTTACCTGCCCCCCCTGCA 0.567 41 82 --- --- --- --- DMBX1 127343 broad.mit.edu 37 1 46972783 46972783 + Frame_Shift_Del DEL C C - TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:46972783delC ENST00000371956.4 + 1 116 c.101delC c.(100-102)gcfs p.A34fs DMBX1_ENST00000360032.3_Frame_Shift_Del_p.A34fs NM_147192.2 NP_671725.1 Q8NFW5 DMBX1_HUMAN diencephalon/mesencephalon homeobox 1 34 Interacts with OXT2 and is required for repressor activity (By similarity). brain development|developmental growth|negative regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Acute lymphoblastic leukemia(166;0.155) GCCCAGCATGCCCCCGACTAC 0.632 27 57 --- --- --- --- DMRTB1 63948 broad.mit.edu 37 1 53930444 53930444 + Frame_Shift_Del DEL C C - TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:53930444delC ENST00000371445.3 + 3 940 c.885delC c.(883-885)ctfs p.L295fs NM_033067.1 NP_149056.1 Q96MA1 DMRTB_HUMAN DMRT-like family B with proline-rich C-terminal, 1 295 Pro-rich. sex differentiation nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity large_intestine(3)|lung(5)|ovary(1)|skin(1) 10 TCCACTTCCTCCCCCCGCCAC 0.647 20 110 --- --- --- --- EFCAB7 84455 broad.mit.edu 37 1 64022857 64022857 + Frame_Shift_Del DEL T T - TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:64022857delT ENST00000371088.4 + 10 1533 c.1287delT c.(1285-1287)aafs p.N429fs EFCAB7_ENST00000461039.1_3'UTR NM_032437.2 NP_115813.2 A8K855 EFCB7_HUMAN EF-hand calcium binding domain 7 429 EF-hand 3. calcium ion binding p.F431fs*3(1) breast(1)|endometrium(4)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 19 AAGAATATAATTTTTTTGAAT 0.294 11 42 --- --- --- --- SPATA1 100505741 broad.mit.edu 37 1 84988201 84988201 + RNA DEL T T - TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:84988201delT ENST00000370638.2 + 0 526 spermatogenesis associated 1 breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|prostate(1) 10 Epithelial(280;4.36e-10)|all cancers(265;7.1e-09)|BRCA - Breast invasive adenocarcinoma(282;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(397;0.00286)|KIRC - Kidney renal clear cell carcinoma(1967;0.0111) GTAAGTTTTCTTTTTTTTTCT 0.323 19 54 --- --- --- --- CDC7 8317 broad.mit.edu 37 1 91979538 91979539 + Frame_Shift_Ins INS - - T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:91979538_91979539insT ENST00000428239.1 + 8 1115_1116 c.856_857insT c.(856-858)tttfs p.F286fs CDC7_ENST00000430031.2_Frame_Shift_Ins_p.F258fs|CDC7_ENST00000234626.6_Frame_Shift_Ins_p.F286fs NM_001134420.1 NP_001127892.1 O00311 CDC7_HUMAN cell division cycle 7 286 Protein kinase. cell cycle checkpoint|cell division|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|positive regulation of cell proliferation|regulation of S phase cytoplasm|nucleoplasm ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|stomach(2) 23 all_lung(203;0.0165)|Lung NSC(277;0.0562) all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124) CCAGCGCTCTGTTTTTGGAGAA 0.396 10 54 --- --- --- --- PIAS3 10401 broad.mit.edu 37 1 145578385 145578385 + Frame_Shift_Del DEL C C - TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:145578385delC ENST00000393045.2 + 2 438 c.348delC c.(346-348)cafs p.H116fs PIAS3_ENST00000369298.1_Intron|PIAS3_ENST00000369299.3_Frame_Shift_Del_p.H107fs NM_006099.3 NP_006090.2 Q9Y6X2 PIAS3_HUMAN protein inhibitor of activated STAT, 3 116 PINIT.|Pro-rich. positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2) 28 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) TGGACATGCACCCCCCTCTGC 0.627 10 148 --- --- --- --- CTSK 1513 broad.mit.edu 37 1 150778662 150778663 + Frame_Shift_Ins INS - - T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:150778662_150778663insT ENST00000271651.3 - 3 268_269 c.158_159insA c.(157-159)actfs p.T53fs CTSK_ENST00000480670.1_Intron NM_000396.3 NP_000387.1 P43235 CATK_HUMAN cathepsin K 53 proteolysis lysosome cysteine-type endopeptidase activity|protein binding cervix(1)|endometrium(1)|lung(4)|skin(1) 7 all_cancers(9;2.32e-51)|all_epithelial(9;3.89e-42)|all_lung(15;4.59e-35)|Lung NSC(24;1.7e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Colorectal(459;0.171)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211) TATACTTCAGGTTTTTTTCCCA 0.396 7 43 --- --- --- --- FLG 2312 broad.mit.edu 37 1 152286884 152286885 + Frame_Shift_Ins INS - - T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:152286884_152286885insT ENST00000368799.1 - 3 512_513 c.477_478insA c.(475-480)aaaaagfs p.KK159fs FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 159 keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CCTTTTCTTTCTTTTTTTTCAG 0.342 Ichthyosis 16 58 --- --- --- --- DENND4B 9909 broad.mit.edu 37 1 153916547 153916547 + Frame_Shift_Del DEL G G - TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:153916547delG ENST00000361217.4 - 2 722 c.304delC c.(304-306)tcfs p.L102fs NM_014856.2 NP_055671.2 O75064 DEN4B_HUMAN DENN/MADD domain containing 4B 102 MABP. NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1) 36 all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) AGCTCAACGAGGGGGGGCTTG 0.632 13 52 --- --- --- --- HAX1 10456 broad.mit.edu 37 1 154246391 154246391 + Frame_Shift_Del DEL C C - TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:154246391delC ENST00000328703.7 + 3 671 c.458delC c.(457-459)tcfs p.S153fs HAX1_ENST00000483970.2_Frame_Shift_Del_p.S161fs|HAX1_ENST00000457918.2_Frame_Shift_Del_p.S105fs|HAX1_ENST00000532105.1_Frame_Shift_Del_p.S25fs NM_006118.3 NP_006109.2 O00165 HAX1_HUMAN HCLS1 associated protein X-1 153 Involved in HCLS1 binding. actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction interleukin-1 binding|protein N-terminus binding cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1) 15 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) AGAAGTGAATCCCCCCAACCA 0.532 Kostmann syndrome 27 178 --- --- --- --- GBA 2629 broad.mit.edu 37 1 155209780 155209781 + Frame_Shift_Ins INS - - G rs141061530 TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:155209780_155209781insG ENST00000327247.5 - 4 435_436 c.203_204insC c.(202-204)cacfs p.H68fs GBA_ENST00000493842.1_5'UTR|GBA_ENST00000427500.2_Frame_Shift_Ins_p.H68fs|GBA_ENST00000368373.3_Frame_Shift_Ins_p.H68fs|GBA_ENST00000428024.2_5'UTR|GBA_ENST00000536770.1_Intron NM_001005741.2|NM_001005742.2 NP_001005741.1|NP_001005742.1 P04062 GLCM_HUMAN glucosidase, beta, acid 68 carbohydrate metabolic process|cell death|cellular response to tumor necrosis factor|ceramide biosynthetic process|glucosylceramide catabolic process|lysosome organization|negative regulation of interleukin-6 production|negative regulation of MAP kinase activity|positive regulation of protein dephosphorylation|sphingosine biosynthetic process|termination of signal transduction lysosomal lumen|lysosomal membrane cation binding|glucosylceramidase activity|receptor binding p.P68P(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 26 all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) Alglucerase(DB00088)|Imiglucerase(DB00053) CAGGAAAGGTCGGGGGGTCAAA 0.604 Gaucher disease type I 9 84 --- --- --- --- C1orf85 112770 broad.mit.edu 37 1 156264663 156264663 + Frame_Shift_Del DEL G G - TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:156264663delG ENST00000362007.1 - 2 291 c.265delC c.(265-267)acfs p.H89fs C1orf85_ENST00000472870.1_5'UTR|C1orf85_ENST00000368264.1_Intron NM_001256604.1|NM_001256609.1|NM_144580.2 NP_001243533.1|NP_001243538.1|NP_653181.1 Q8WWB7 NCUG1_HUMAN chromosome 1 open reading frame 85 89 positive regulation of transcription from RNA polymerase II promoter cytosol|integral to membrane|lysosomal membrane|nucleus ligand-dependent nuclear receptor activity|protein binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding breast(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(2)|prostate(2)|skin(3) 14 Hepatocellular(266;0.158) AGGGTGCTGTGGGGGGTGTTG 0.597 30 329 --- --- --- --- TNR 7143 broad.mit.edu 37 1 175324641 175324642 + Frame_Shift_Ins INS - - G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:175324641_175324642insG ENST00000367674.1 - 17 3954_3955 c.3246_3247insC c.(3244-3249)cgaggafs p.G1083fs TNR_ENST00000263525.2_Frame_Shift_Ins_p.G1083fs NM_003285.2 NP_003276.3 Q92752 TENR_HUMAN tenascin R 1083 Fibronectin type-III 9. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 177 Renal(580;0.146) AATCTCACCTTGCGGCTTCCAT 0.510 28 113 --- --- --- --- FAM163A 148753 broad.mit.edu 37 1 179783255 179783255 + Frame_Shift_Del DEL C C - TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:179783255delC ENST00000341785.4 + 5 831 c.435delC c.(433-435)tafs p.Y145fs NM_173509.2 NP_775780.1 Q96GL9 F163A_HUMAN family with sequence similarity 163, member A 145 integral to membrane endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1) 15 CCCAGAGTTACCCGGTGACCT 0.597 34 151 --- --- --- --- IL10 3586 broad.mit.edu 37 1 206944290 206944290 + Frame_Shift_Del DEL C C - TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:206944290delC ENST00000423557.1 - 3 398 c.340delG c.(340-342)agfs p.E114fs IL10_ENST00000471071.1_5'UTR NM_000572.2 NP_000563.1 P22301 IL10_HUMAN interleukin 10 114 anti-apoptosis|B cell differentiation|B cell proliferation|cytoplasmic sequestering of NF-kappaB|inflammatory response|leukocyte chemotaxis|negative regulation of B cell proliferation|negative regulation of cytokine secretion involved in immune response|negative regulation of interferon-alpha biosynthetic process|negative regulation of interleukin-6 production|negative regulation of membrane protein ectodomain proteolysis|negative regulation of MHC class II biosynthetic process|negative regulation of T cell proliferation|positive regulation of B cell apoptosis|positive regulation of cytokine secretion|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|receptor biosynthetic process|regulation of isotype switching|response to glucocorticoid stimulus|type 2 immune response extracellular space cytokine activity|growth factor activity|interleukin-10 receptor binding endometrium(1)|large_intestine(6)|lung(4)|prostate(1) 12 Breast(84;0.183) BRCA - Breast invasive adenocarcinoma(75;0.211) TTCAGGTTCTCCCCCAGGGAG 0.537 18 112 --- --- --- --- ADSS 159 broad.mit.edu 37 1 244595876 244595877 + Frame_Shift_Ins INS - - T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr1:244595876_244595877insT ENST00000366535.3 - 4 692_693 c.376_377insA c.(376-378)gctfs p.A126fs NM_001126.3 NP_001117.2 P30520 PURA2_HUMAN adenylosuccinate synthase 126 AMP biosynthetic process|immune system process|purine base metabolic process cytosol|plasma membrane adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 12 all_cancers(71;2.17e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121) all_cancers(173;0.0896)|all_epithelial(177;0.172) all cancers(7;9.71e-08)|GBM - Glioblastoma multiforme(7;1.28e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.0014) L-Aspartic Acid(DB00128) TATAATAAGCCTTTTTTCCCAG 0.248 33 144 --- --- --- --- C2orf42 54980 broad.mit.edu 37 2 70392682 70392682 + Frame_Shift_Del DEL T T - TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr2:70392682delT ENST00000264434.2 - 7 1609 c.1230delA c.(1228-1230)aafs p.K410fs C2orf42_ENST00000420306.1_Frame_Shift_Del_p.K410fs NM_017880.1 NP_060350.1 Q9NWW7 CB042_HUMAN chromosome 2 open reading frame 42 410 endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1) 12 TGGGGAGCCGTTTTTTTGCAC 0.408 15 74 --- --- --- --- RNF103 7844 broad.mit.edu 37 2 86831015 86831015 + Frame_Shift_Del DEL T T - TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr2:86831015delT ENST00000237455.4 - 4 2977 c.2009delA c.(2008-2010)agfs p.K670fs RNF103-CHMP3_ENST00000604011.1_Intron|AC015971.2_ENST00000439077.1_RNA|AC015971.2_ENST00000597638.1_RNA|CHMP3_ENST00000439940.2_Intron NM_001198951.1|NM_005667.3 NP_001185880.1|NP_005658.1 O00237 RN103_HUMAN ring finger protein 103 670 central nervous system development|ER-associated protein catabolic process endoplasmic reticulum membrane|integral to membrane protein binding|ubiquitin-protein ligase activity|zinc ion binding central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2) 25 ATATGGCTGCTTTTTTTTATA 0.443 28 106 --- --- --- --- ANKRD36C 400986 broad.mit.edu 37 2 96521244 96521245 + Frame_Shift_Ins INS - - T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr2:96521244_96521245insT ENST00000456556.1 - 63 4848_4849 c.4764_4765insA c.(4762-4767)aaaaaafs p.KK1588fs ANKRD36C_ENST00000420871.2_Frame_Shift_Ins_p.KK839fs|ANKRD36C_ENST00000419039.2_Frame_Shift_Ins_p.KK615fs ankyrin repeat domain 36C breast(1)|endometrium(8)|kidney(5)|lung(4) 18 AACATATTTTGTTTTTTTAGTT 0.332 8 141 --- --- --- --- LIPT1 51601 broad.mit.edu 37 2 99778781 99778781 + Frame_Shift_Del DEL A A - TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr2:99778781delA ENST00000393477.3 + 4 713 c.361delA c.(361-363)aafs p.K123fs MRPL30_ENST00000410042.1_Intron|LIPT1_ENST00000340066.1_Frame_Shift_Del_p.K123fs|LIPT1_ENST00000393473.2_Frame_Shift_Del_p.K123fs|LIPT1_ENST00000393471.2_Frame_Shift_Del_p.K123fs|LIPT1_ENST00000393474.3_Frame_Shift_Del_p.K123fs NM_145197.2 NP_660198.1 Q9Y234 LIPT_HUMAN lipoyltransferase 1 123 lipid metabolic process|protein lipoylation mitochondrion acyltransferase activity large_intestine(6)|lung(1) 7 Lipoic Acid(DB00166) CTTTACAACCAAAAAAAAGTA 0.388 9 89 --- --- --- --- GORASP2 26003 broad.mit.edu 37 2 171822355 171822355 + Frame_Shift_Del DEL C C - TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr2:171822355delC ENST00000234160.4 + 10 1889 c.1074delC c.(1072-1074)ctfs p.L358fs GORASP2_ENST00000493692.1_3'UTR|GORASP2_ENST00000452526.2_Frame_Shift_Del_p.L370fs NM_001201428.1|NM_015530.4 NP_001188357.1|NP_056345.3 Q9H8Y8 GORS2_HUMAN golgi reassembly stacking protein 2, 55kDa 358 Pro-rich. Golgi membrane breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1) 14 TTGCACCTCTCCCCCTGCCAT 0.567 7 136 --- --- --- --- HECW2 57520 broad.mit.edu 37 2 197172719 197172719 + Frame_Shift_Del DEL G G - TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr2:197172719delG ENST00000260983.2 - 11 2707 c.2525delC c.(2524-2526)cafs p.P842fs HECW2_ENST00000409111.1_Frame_Shift_Del_p.P486fs NM_020760.1 NP_065811.1 Q9P2P5 HECW2_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 842 Interaction with TP73. protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm ubiquitin-protein ligase activity biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 113 CTGCGGGGCTGGGGGAGCTGT 0.547 10 63 --- --- --- --- BARD1 580 broad.mit.edu 37 2 215645459 215645459 + Frame_Shift_Del DEL T T - TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr2:215645459delT ENST00000260947.4 - 4 1273 c.1139delA c.(1138-1140)acfs p.N380fs BARD1_ENST00000449967.2_Frame_Shift_Del_p.N236fs NM_000465.2 NP_000456.2 Q99728 BARD1_HUMAN BRCA1 associated RING domain 1 380 cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1) 35 Renal(323;0.0243) Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) CATGTTACTGTTTTTCCTCCC 0.423 Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome 8 92 --- --- --- --- TRIP12 9320 broad.mit.edu 37 2 230661315 230661315 + Frame_Shift_Del DEL A A - TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr2:230661315delA ENST00000283943.5 - 24 3761 c.3583delT c.(3583-3585)ctfs p.S1196fs TRIP12_ENST00000389045.3_Frame_Shift_Del_p.S926fs|TRIP12_ENST00000389044.4_Frame_Shift_Del_p.S1244fs NM_004238.1 NP_004229.1 Q14669 TRIPC_HUMAN thyroid hormone receptor interactor 12 1196 protein ubiquitination involved in ubiquitin-dependent protein catabolic process proteasome complex thyroid hormone receptor binding|ubiquitin-protein ligase activity breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 87 Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116) ACTGGAGAAGAAAAAAATACA 0.338 8 56 --- --- --- --- KCNH8 131096 broad.mit.edu 37 3 19554525 19554527 + In_Frame_Del DEL GAG GAG - TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr3:19554525_19554527delGAG ENST00000328405.2 + 13 2409_2411 c.2143_2145delGAG c.(2143-2145)del p.E718del NM_144633.2 NP_653234.2 Q96L42 KCNH8_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 8 718 Poly-Glu. integral to membrane two-component sensor activity NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 77 agatgaggaagaggaggaggagg 0.493 8 28 --- --- --- --- TMEM89 440955 broad.mit.edu 37 3 48659165 48659167 + In_Frame_Del DEL GCA GCA - TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr3:48659165_48659167delGCA ENST00000330862.3 - 1 121_123 c.23_25delTGC c.(22-27)cct>c p.LP8del NM_001008269.1 NP_001008270.1 A2RUT3 TMM89_HUMAN transmembrane protein 89 8 integral to membrane breast(1)|lung(1)|stomach(1) 3 BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605) AGCAGCAAAGGCAGCGAGGCCAG 0.695 14 34 --- --- --- --- SPATA12 353324 broad.mit.edu 37 3 57108022 57108024 + In_Frame_Del DEL TCT TCT - TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr3:57108022_57108024delTCT ENST00000334325.1 + 2 975_977 c.300_302delTCT c.(298-303)aat>aa p.NL100del ARHGEF3_ENST00000338458.4_Intron NM_181727.1 NP_859078.1 Q7Z6I5 SPT12_HUMAN spermatogenesis associated 12 100 large_intestine(2)|lung(1) 3 KIRC - Kidney renal clear cell carcinoma(284;0.0111)|Kidney(284;0.0129) CCCAAATAAATCTTCTGGGAAGA 0.453 28 52 --- --- --- --- ESYT3 83850 broad.mit.edu 37 3 138187531 138187533 + In_Frame_Del DEL TCT TCT - TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr3:138187531_138187533delTCT ENST00000389567.4 + 13 1529_1531 c.1343_1345delTCT c.(1342-1347)gtc>g p.VF448del NM_031913.3 NP_114119.2 A0FGR9 ESYT3_HUMAN extended synaptotagmin-like protein 3 448 C2 2. integral to membrane|plasma membrane breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1) 25 ATTCTCGTGGTCTTCTTGGAGAG 0.522 10 167 --- --- --- --- DHX36 170506 broad.mit.edu 37 3 153998375 153998375 + Frame_Shift_Del DEL T T - TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr3:153998375delT ENST00000496811.1 - 22 2640 c.2560delA c.(2560-2562)gafs p.R854fs DHX36_ENST00000308361.6_Frame_Shift_Del_p.R825fs|DHX36_ENST00000329463.5_Frame_Shift_Del_p.R840fs|DHX36_ENST00000544526.1_Frame_Shift_Del_p.R840fs NM_020865.2 NP_065916.2 Q9H2U1 DHX36_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 36 854 cytoplasm|nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1) 35 LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173) TACATTTTTCTTTTTTTACCC 0.294 10 49 --- --- --- --- NMD3 51068 broad.mit.edu 37 3 160967314 160967315 + Frame_Shift_Del DEL AG AG - TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr3:160967314_160967315delAG ENST00000460469.1 + 13 1731_1732 c.1276_1277delAG c.(1276-1278)afs p.R426fs NMD3_ENST00000472947.1_Frame_Shift_Del_p.R426fs|NMD3_ENST00000351193.2_Frame_Shift_Del_p.R426fs Q96D46 NMD3_HUMAN NMD3 ribosome export adaptor 426 Necessary for the nuclear export of the 60S ribosomal subunit. protein transport cytoplasm|nucleolus|nucleoplasm cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(10)|ovary(1)|skin(1)|urinary_tract(2) 25 Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156) AGAGCTTGCAAGAGAGAGAGAA 0.337 13 60 --- --- --- --- FXR1 8087 broad.mit.edu 37 3 180671564 180671564 + Frame_Shift_Del DEL A A - TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr3:180671564delA ENST00000357559.4 + 9 1200 c.816delA c.(814-816)gtfs p.V272fs FXR1_ENST00000491062.1_Frame_Shift_Del_p.V223fs|FXR1_ENST00000305586.7_Frame_Shift_Del_p.V187fs|FXR1_ENST00000480918.1_Frame_Shift_Del_p.V259fs|FXR1_ENST00000468861.1_Frame_Shift_Del_p.V187fs|FXR1_ENST00000445140.2_Frame_Shift_Del_p.V272fs NM_001013438.2|NM_005087.3 NP_001013456.1|NP_005078.2 P51114 FXR1_HUMAN fragile X mental retardation, autosomal homolog 1 272 apoptosis|cell differentiation|muscle organ development nucleolus|polysome breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2) 26 all_cancers(143;6.07e-14)|Ovarian(172;0.0212) Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22) CTGATGCTGTAAAAAAGGCTA 0.353 23 127 --- --- --- --- TNK2 10188 broad.mit.edu 37 3 195595228 195595229 + Frame_Shift_Ins INS - - G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr3:195595228_195595229insG ENST00000333602.6 - 12 2512_2513 c.1895_1896insC c.(1894-1896)cccfs p.P632fs TNK2_ENST00000381916.2_Frame_Shift_Ins_p.P710fs|TNK2_ENST00000392400.1_Frame_Shift_Ins_p.P632fs|TNK2_ENST00000428187.1_Frame_Shift_Ins_p.P664fs NM_005781.4 NP_005772.3 Q07912 ACK1_HUMAN tyrosine kinase, non-receptor, 2 632 Pro-rich.|Required for interaction with NEDD4 (By similarity).|Required for interaction with SRC. Missing (in Ref. 4; AAH08884). positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction adherens junction|cytoplasmic vesicle membrane|endosome|nucleus ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1) 29 all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;0.000757) Adenosine triphosphate(DB00171) CATAGGCGGGCGGGGGGGGCAG 0.728 13 102 --- --- --- --- MAN2B2 23324 broad.mit.edu 37 4 6611639 6611639 + Frame_Shift_Del DEL C C - TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr4:6611639delC ENST00000285599.3 + 13 2157 c.2121delC c.(2119-2121)ggfs p.G707fs MAN2B2_ENST00000504960.1_3'UTR|MAN2B2_ENST00000504248.1_Frame_Shift_Del_p.G656fs NM_015274.1 NP_056089.1 Q9Y2E5 MA2B2_HUMAN mannosidase, alpha, class 2B, member 2 707 mannose metabolic process extracellular region alpha-mannosidase activity|carbohydrate binding|zinc ion binding breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1) 30 ACCAAGCCGGCCCCCTGGAGC 0.602 14 39 --- --- --- --- PSAPL1 768239 broad.mit.edu 37 4 7435832 7435832 + Frame_Shift_Del DEL C C - TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr4:7435832delC ENST00000319098.4 - 1 868 c.775delG c.(775-777)cafs p.A259fs SORCS2_ENST00000507866.2_Intron|SORCS2_ENST00000511199.1_Intron|SORCS2_ENST00000329016.9_Intron NM_001085382.1 NP_001078851.1 Q6NUJ1 SAPL1_HUMAN prosaposin-like 1 (gene/pseudogene) 259 sphingolipid metabolic process extracellular region|lysosome lung(4) 4 CGGGCAGGTGCCCCTAGCTCC 0.597 13 53 --- --- --- --- GABRA4 2557 broad.mit.edu 37 4 46995383 46995383 + Frame_Shift_Del DEL A A - TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr4:46995383delA ENST00000264318.3 - 1 1041 c.59delT c.(58-60)ccfs p.L21fs GABRA4_ENST00000509316.1_5'UTR NM_000809.3|NM_001204266.1|NM_001204267.1 NP_000800.2|NP_001191195.1|NP_001191196.1 P48169 GBRA4_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 4 21 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) GAAGCGCAGGAGGGCGAAACT 0.592 32 232 --- --- --- --- SRP72 6731 broad.mit.edu 37 4 57333819 57333820 + Frame_Shift_Ins INS - - G rs17524437 by1000genomes TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr4:57333819_57333820insG ENST00000342756.5 + 1 739_740 c.18_19insG c.(16-21)agggggfs p.RG6fs SRP72_ENST00000504757.1_Frame_Shift_Ins_p.RG6fs|SRP72_ENST00000510663.1_Frame_Shift_Ins_p.RG6fs NM_006947.3 NP_008878.3 O76094 SRP72_HUMAN signal recognition particle 72kDa 6 response to drug|SRP-dependent cotranslational protein targeting to membrane cytosol|nucleolus|plasma membrane|signal recognition particle, endoplasmic reticulum targeting 7S RNA binding|signal recognition particle binding breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(7)|ovary(2) 22 Glioma(25;0.08)|all_neural(26;0.101) GCGGCGGCAGCGGGGGGGTGTC 0.639 7 43 --- --- --- --- EPHA5 2044 broad.mit.edu 37 4 66231662 66231665 + Frame_Shift_Del DEL CTCT CTCT - TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr4:66231662_66231665delCTCT ENST00000273854.3 - 11 2635_2638 c.2035_2038delAGAG c.(2035-2040)ttfs p.RV679fs EPHA5_ENST00000432638.2_Frame_Shift_Del_p.RV516fs|EPHA5_ENST00000354839.4_Frame_Shift_Del_p.RV657fs|EPHA5_ENST00000511294.1_Frame_Shift_Del_p.RV680fs NM_004439.5 NP_004430.4 P54756 EPHA5_HUMAN EPH receptor A5 679 Protein kinase. cAMP-mediated signaling|neuron development dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum ATP binding|transmembrane-ephrin receptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 142 GCTCCAATAACTCTCTCAATGGTG 0.377 TSP Lung(17;0.13) 9 148 --- --- --- --- THAP6 152815 broad.mit.edu 37 4 76442067 76442067 + Frame_Shift_Del DEL A A - TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr4:76442067delA ENST00000311638.3 + 3 234 c.166delA c.(166-168)aafs p.K57fs THAP6_ENST00000508105.1_Frame_Shift_Del_p.K16fs|THAP6_ENST00000514480.1_Frame_Shift_Del_p.K57fs|THAP6_ENST00000507885.1_Frame_Shift_Del_p.K16fs|THAP6_ENST00000507557.1_Frame_Shift_Del_p.K16fs|THAP6_ENST00000507556.1_Frame_Shift_Del_p.K57fs|THAP6_ENST00000504190.1_Frame_Shift_Del_p.K16fs|THAP6_ENST00000502620.1_Frame_Shift_Del_p.K16fs|THAP6_ENST00000380837.3_Frame_Shift_Del_p.K57fs NM_144721.4 NP_653322.1 Q8TBB0 THAP6_HUMAN THAP domain containing 6 57 microtubule cytoskeleton DNA binding|metal ion binding lung(5) 5 Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122) TTGGGAGCCTAAAAAAGGAGA 0.378 11 110 --- --- --- --- WDFY3 23001 broad.mit.edu 37 4 85715676 85715677 + Frame_Shift_Ins INS - - T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr4:85715676_85715677insT ENST00000322366.6 - 21 3889_3890 c.3482_3483insA c.(3481-3483)atafs p.I1161fs WDFY3_ENST00000295888.4_Frame_Shift_Ins_p.I1161fs Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 1161 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) ACTGACCATAATTTTGGAGGAG 0.312 42 116 --- --- --- --- BANK1 55024 broad.mit.edu 37 4 102951317 102951317 + Frame_Shift_Del DEL A A - TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr4:102951317delA ENST00000504592.1 + 14 2168 c.1750delA c.(1750-1752)aafs p.K585fs RP11-498M5.2_ENST00000505091.1_RNA|BANK1_ENST00000322953.4_Frame_Shift_Del_p.K600fs|BANK1_ENST00000444316.2_Frame_Shift_Del_p.K570fs|BANK1_ENST00000428908.1_Frame_Shift_Del_p.K467fs|BANK1_ENST00000508653.1_Frame_Shift_Del_p.K467fs Q8NDB2 BANK1_HUMAN B-cell scaffold protein with ankyrin repeats 1 600 B cell activation NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1) 44 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;2.7e-07) GAGTATAAAGAAAAAAACTGG 0.423 16 87 --- --- --- --- ANK2 287 broad.mit.edu 37 4 114276131 114276131 + Frame_Shift_Del DEL G G - TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr4:114276131delG ENST00000357077.4 + 38 6410 c.6357delG c.(6355-6357)cafs p.Q2119fs ANK2_ENST00000509550.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000264366.6_Frame_Shift_Del_p.Q2086fs|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000506722.1_Intron NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 2086 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) CTGATGAGCAGGGAGACATGG 0.453 15 51 --- --- --- --- TTC39CP1 100288825 broad.mit.edu 37 4 117115754 117115754 + RNA DEL T T - TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr4:117115754delT ENST00000509983.1 - 0 333 GAACCCTTTATTTTTTTTCAG 0.398 2 4 --- --- --- --- GALNTL6 442117 broad.mit.edu 37 4 173961139 173961141 + In_Frame_Del DEL AGA AGA - TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr4:173961139_173961141delAGA ENST00000506823.1 + 13 2351_2353 c.1694_1696delAGA c.(1693-1698)gag>g p.EK565del GALNTL6_ENST00000508122.1_In_Frame_Del_p.EK548del NM_001034845.2 NP_001030017.2 Q49A17 GLTL6_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6 565 Ricin B-type lectin. Golgi membrane|integral to membrane metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding p.K567delK(1) breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 45 AACCCCGCAGAGAAGAAGATTTT 0.424 21 55 --- --- --- --- PRLR 5618 broad.mit.edu 37 5 35065958 35065958 + Frame_Shift_Del DEL G G - TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr5:35065958delG ENST00000382002.5 - 10 1528 c.1102delC c.(1102-1104)agfs p.Q368fs PRLR_ENST00000342362.5_Frame_Shift_Del_p.Q267fs|PRLR_ENST00000542609.1_Intron|PRLR_ENST00000511486.1_Frame_Shift_Del_p.Q267fs|PRLR_ENST00000397391.3_Intron|PRLR_ENST00000310101.5_Intron|PRLR_ENST00000348262.3_Intron|PRLR_ENST00000231423.3_Intron|PRLR_ENST00000513753.1_Intron NM_000949.5 NP_000940.1 P16471 PRLR_HUMAN prolactin receptor 368 activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation cell surface|extracellular region|integral to membrane metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 48 all_lung(31;3.83e-05) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052) GGATTGGCCTGGGGTTCCTCA 0.527 21 92 --- --- --- --- SPEF2 79925 broad.mit.edu 37 5 35654721 35654721 + Frame_Shift_Del DEL A A - TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr5:35654721delA ENST00000440995.2 + 7 871 c.871delA c.(871-873)aafs p.K292fs SPEF2_ENST00000509059.1_Frame_Shift_Del_p.K292fs|SPEF2_ENST00000282469.6_Frame_Shift_Del_p.K292fs|SPEF2_ENST00000356031.3_Frame_Shift_Del_p.K292fs Q9C093 SPEF2_HUMAN sperm flagellar 2 292 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 37 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) CGAGTACATTAAAAAAATCCA 0.398 21 205 --- --- --- --- C6 729 broad.mit.edu 37 5 41181560 41181560 + Frame_Shift_Del DEL C C - TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr5:41181560delC ENST00000263413.3 - 7 1092 c.828delG c.(826-828)ggfs p.G276fs C6_ENST00000337836.5_Frame_Shift_Del_p.G276fs|C6_ENST00000475349.1_5'UTR NM_001115131.1 NP_001108603.2 P13671 CO6_HUMAN complement component 6 276 MACPF. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2) 96 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) TGAAAGAGCTCCCCCCCTGAC 0.378 21 135 --- --- --- --- SNCAIP 9627 broad.mit.edu 37 5 121786666 121786667 + Frame_Shift_Del DEL AG AG - rs55712196 byFrequency TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr5:121786666_121786667delAG ENST00000261367.7 + 12 3693_3694 c.2265_2266delAG c.(2263-2268)gtagfs p.VE755fs CTC-210G5.1_ENST00000503529.1_RNA|SNCAIP_ENST00000379538.3_Frame_Shift_Del_p.VE342fs|CTC-210G5.1_ENST00000510972.1_RNA|SNCAIP_ENST00000504884.2_3'UTR|CTC-210G5.1_ENST00000509993.1_RNA|SNCAIP_ENST00000414317.2_Frame_Shift_Del_p.VE310fs|CTC-210G5.1_ENST00000505546.1_RNA|SNCAIP_ENST00000261368.8_Frame_Shift_Del_p.VE708fs|SNCAIP_ENST00000503116.2_3'UTR|SNCAIP_ENST00000379536.2_Frame_Shift_Del_p.VE648fs|CTC-210G5.1_ENST00000506053.1_RNA|SNCAIP_ENST00000379533.2_Frame_Shift_Del_p.VE755fs|SNCAIP_ENST00000542191.1_Frame_Shift_Del_p.VE266fs Q9Y6H5 SNCAP_HUMAN synuclein, alpha interacting protein 708 cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion cytoplasm|neuronal cell body|nucleolus|presynaptic membrane ubiquitin protein ligase binding NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 39 all_cancers(142;0.00787)|Prostate(80;0.0327) KIRC - Kidney renal clear cell carcinoma(527;0.206) OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232) TAGAAAGCGTAGAGAGTATGGA 0.535 14 39 --- --- --- --- ISOC1 51015 broad.mit.edu 37 5 128441039 128441040 + Frame_Shift_Del DEL AG AG - TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr5:128441039_128441040delAG ENST00000173527.5 + 3 607_608 c.591_592delAG c.(589-594)gcagfs p.AE197fs NM_016048.2 NP_057132.2 Q96CN7 ISOC1_HUMAN isochorismatase domain containing 1 197 peroxisome catalytic activity kidney(2)|lung(7) 9 all_cancers(142;0.0813)|Prostate(80;0.0865) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Epithelial(69;0.138)|OV - Ovarian serous cystadenocarcinoma(64;0.164) CGGCATTAGCAGAGATTCCCGG 0.361 12 40 --- --- --- --- MATR3 9782 broad.mit.edu 37 5 138643878 138643878 + Frame_Shift_Del DEL C C - TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr5:138643878delC ENST00000394800.2 + 6 1323 c.774delC c.(772-774)ggfs p.G258fs MATR3_ENST00000502929.1_Frame_Shift_Del_p.G258fs|MATR3_ENST00000502499.1_Intron|MATR3_ENST00000504203.1_Intron|MATR3_ENST00000503811.1_Intron|MATR3_ENST00000510056.1_Frame_Shift_Del_p.G258fs|MATR3_ENST00000509990.1_Frame_Shift_Del_p.G258fs|MATR3_ENST00000394805.3_Frame_Shift_Del_p.G258fs|MATR3_ENST00000361059.2_Frame_Shift_Del_p.G258fs P43243 MATR3_HUMAN matrin 3 258 nuclear inner membrane|nuclear matrix nucleotide binding|protein binding|RNA binding|structural molecule activity|zinc ion binding breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 29 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) GTGGTCCTGGCCCCTTACAAG 0.448 32 39 --- --- --- --- TCERG1 10915 broad.mit.edu 37 5 145883527 145883529 + In_Frame_Del DEL AGA AGA - TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr5:145883527_145883529delAGA ENST00000296702.5 + 18 2726_2728 c.2688_2690delAGA c.(2686-2691)cga>cg p.RE896del TCERG1_ENST00000394421.2_In_Frame_Del_p.RE875del|TCERG1_ENST00000509787.1_3'UTR NM_006706.3 NP_006697.2 O14776 TCRG1_HUMAN transcription elongation regulator 1 896 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus protein binding|transcription coactivator activity breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1) 46 Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) AGCACAAACGAGAAGAAGCTATC 0.394 10 47 --- --- --- --- HMMR 3161 broad.mit.edu 37 5 162917426 162917426 + Frame_Shift_Del DEL A A - TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr5:162917426delA ENST00000416990.2 + 17 2145 c.1648delA c.(1648-1650)aafs p.K552fs HMMR_ENST00000353866.3_Frame_Shift_Del_p.K651fs|HMMR_ENST00000393915.4_Frame_Shift_Del_p.K667fs|RP11-80G7.1_ENST00000514724.2_RNA|HMMR_ENST00000432118.2_Frame_Shift_Del_p.K580fs|HMMR_ENST00000358715.3_Frame_Shift_Del_p.K666fs|RP11-80G7.1_ENST00000521666.1_RNA O75330 HMMR_HUMAN hyaluronan-mediated motility receptor (RHAMM) 666 cell surface|cytoplasm hyaluronic acid binding cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 23 Renal(175;0.000281) Medulloblastoma(196;0.00853)|all_neural(177;0.0408) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848) TCAGCTTGCTAAAAAAAAACA 0.308 19 32 --- --- --- --- HRH2 3274 broad.mit.edu 37 5 175111218 175111219 + Frame_Shift_Ins INS - - A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr5:175111218_175111219insA ENST00000231683.2 + 1 2755_2756 c.982_983insA c.(982-984)aagfs p.K328fs HRH2_ENST00000377291.2_Frame_Shift_Ins_p.K328fs NM_022304.2 NP_071640.1 P25021 HRH2_HUMAN histamine receptor H2 328 G-protein signaling, coupled to cyclic nucleotide second messenger|immune response integral to plasma membrane histamine receptor activity breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1) 22 all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711) Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149) Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863) GTCCAGGACCCAAAGCCGAGAA 0.594 41 60 --- --- --- --- STK19 8859 broad.mit.edu 37 6 31939829 31939830 + Frame_Shift_Ins INS - - A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr6:31939829_31939830insA ENST00000375331.2 + 1 222_223 c.56_57insA c.(55-57)gaafs p.E19fs DOM3Z_ENST00000478221.1_5'UTR|STK19_ENST00000375333.2_Frame_Shift_Ins_p.E19fs|DOM3Z_ENST00000337523.5_5'UTR|DOM3Z_ENST00000375349.3_5'UTR NM_004197.1 NP_004188.1 P49842 STK19_HUMAN serine/threonine kinase 19 19 nucleus ATP binding|protein binding|protein serine/threonine kinase activity skin(5)|upper_aerodigestive_tract(2) 7 CAGTGGCGGGCAAACCCCTCCC 0.634 10 178 --- --- --- --- CUL7 9820 broad.mit.edu 37 6 43011247 43011250 + Frame_Shift_Del DEL GTGA GTGA - TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr6:43011247_43011250delGTGA ENST00000535468.1 - 17 3629_3632 c.3543_3546delTCAC c.(3541-3546)acfs p.TH1181fs CUL7_ENST00000265348.3_Frame_Shift_Del_p.TH1097fs NM_001168370.1|NM_014780.4 NP_001161842.1|NP_055595.2 Q14999 CUL7_HUMAN cullin 7 1097 interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis anaphase-promoting complex|mitochondrion ubiquitin protein ligase binding breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 49 all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188) GCACCAGCAGGTGAGTGAGACGGC 0.637 8 74 --- --- --- --- DST 667 broad.mit.edu 37 6 56362758 56362760 + In_Frame_Del DEL CTT CTT - TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr6:56362758_56362760delCTT ENST00000370754.5 - 81 19894_19896 c.19895_19897delAAG c.(19894-19899)gca>g p.EA6632del DST_ENST00000340834.4_5'UTR|DST_ENST00000312431.6_3'UTR|DST_ENST00000370788.2_In_Frame_Del_p.EA4257del|DST_ENST00000421834.2_In_Frame_Del_p.EA4366del|DST_ENST00000446842.2_In_Frame_Del_p.EA6128del|DST_ENST00000244364.6_In_Frame_Del_p.EA4040del|DST_ENST00000361203.3_In_Frame_Del_p.EA6343del|DST_ENST00000370769.4_In_Frame_Del_p.EA6454del Q03001 DYST_HUMAN dystonin 6452 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) AGGTTGCTTGCTTCTTCTCCTGC 0.419 11 140 --- --- --- --- FAM135A 57579 broad.mit.edu 37 6 71212362 71212362 + Frame_Shift_Del DEL G G - TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr6:71212362delG ENST00000418814.2 + 12 1511 c.897delG c.(895-897)ctfs p.L299fs FAM135A_ENST00000457062.2_Frame_Shift_Del_p.L282fs|FAM135A_ENST00000505769.1_Frame_Shift_Del_p.L299fs|FAM135A_ENST00000370479.3_Frame_Shift_Del_p.L282fs|FAM135A_ENST00000505868.1_Frame_Shift_Del_p.L299fs|FAM135A_ENST00000361499.3_Frame_Shift_Del_p.L299fs NM_001105531.2|NM_001162529.1 NP_001099001.1|NP_001156001.1 Q9P2D6 F135A_HUMAN family with sequence similarity 135, member A 299 breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 38 CTGATGAACTGGCAGAACTTA 0.308 28 42 --- --- --- --- DNAH11 8701 broad.mit.edu 37 7 21639563 21639564 + Frame_Shift_Ins INS - - T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr7:21639563_21639564insT ENST00000328843.6 + 15 2857_2858 c.2826_2827insT c.(2824-2829)ccttttfs p.PF942fs DNAH11_ENST00000409508.3_Frame_Shift_Ins_p.PF942fs Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 942 Stem (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 AACCGGCACCGTTTTTTCAAGC 0.406 Kartagener syndrome 13 25 --- --- --- --- TMEM60 85025 broad.mit.edu 37 7 77423460 77423460 + Frame_Shift_Del DEL T T - TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr7:77423460delT ENST00000257663.3 - 2 607 c.231delA c.(229-231)aafs p.K77fs NM_032936.3 NP_116325.1 Q9H2L4 TMM60_HUMAN transmembrane protein 60 77 integral to membrane endometrium(1)|large_intestine(1)|lung(2) 4 GGTACCAGGCTTTTTTTTTAA 0.408 20 132 --- --- --- --- PCLO 27445 broad.mit.edu 37 7 82544822 82544822 + Frame_Shift_Del DEL T T - TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr7:82544822delT ENST00000423517.2 - 7 12817 c.12480delA c.(12478-12480)aafs p.K4160fs PCLO_ENST00000437081.1_Frame_Shift_Del_p.K880fs|PCLO_ENST00000333891.8_Frame_Shift_Del_p.K4160fs NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 4091 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 ACTTCTCAGATTTTGGAAAAT 0.383 18 104 --- --- --- --- PILRA 29992 broad.mit.edu 37 7 99971280 99971281 + Translation_Start_Site INS - - T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr7:99971280_99971281insT ENST00000198536.2 + 0 213_214 PILRA_ENST00000453419.1_Start_Codon_Ins|PILRA_ENST00000350573.2_Start_Codon_Ins|PILRA_ENST00000394000.2_Start_Codon_Ins NM_013439.2 NP_038467.2 Q9UKJ1 PILRA_HUMAN paired immunoglobin-like type 2 receptor alpha interspecies interaction between organisms extracellular region|integral to membrane|plasma membrane protein binding|receptor activity endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1) 15 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) GAACAAGGCCATGGGTCGGCCC 0.668 62 96 --- --- --- --- AP1S1 1174 broad.mit.edu 37 7 100802405 100802405 + Frame_Shift_Del DEL G G - TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr7:100802405delG ENST00000337619.5 + 4 475 c.357delG c.(355-357)atfs p.M119fs NM_001283.3 NP_001274.1 P61966 AP1S1_HUMAN adaptor-related protein complex 1, sigma 1 subunit 119 intracellular protein transport|post-Golgi vesicle-mediated transport|receptor-mediated endocytosis|regulation of defense response to virus by virus|response to virus|viral reproduction AP-1 adaptor complex|coated pit|cytosol|lysosomal membrane protein binding|protein transporter activity breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2) 8 Lung NSC(181;0.168)|all_lung(186;0.215) AGTTTTTGATGGGGGGGGATG 0.562 14 49 --- --- --- --- SLC26A5 375611 broad.mit.edu 37 7 103061308 103061308 + Frame_Shift_Del DEL T T - TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr7:103061308delT ENST00000306312.3 - 4 430 c.169delA c.(169-171)tafs p.I57fs SLC26A5_ENST00000393723.1_Frame_Shift_Del_p.I57fs|SLC26A5_ENST00000393727.1_Frame_Shift_Del_p.I57fs|SLC26A5_ENST00000393730.1_Frame_Shift_Del_p.I57fs|SLC26A5_ENST00000393735.2_Frame_Shift_Del_p.I57fs|SLC26A5_ENST00000356767.4_Frame_Shift_Del_p.I57fs|SLC26A5_ENST00000339444.6_Frame_Shift_Del_p.I57fs|SLC26A5_ENST00000354356.4_5'UTR|SLC26A5_ENST00000432958.2_Frame_Shift_Del_p.I57fs|SLC26A5_ENST00000393729.1_Frame_Shift_Del_p.I57fs NM_198999.2 NP_945350.1 P58743 S26A5_HUMAN solute carrier family 26 (anion exchanger), member 5 57 regulation of cell shape|sensory perception of sound integral to membrane secondary active sulfate transmembrane transporter activity p.I57fs*1(1) endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5) 43 ATATTTCTTATTTTTTTAGGA 0.353 14 90 --- --- --- --- FAM3C 10447 broad.mit.edu 37 7 121023066 121023067 + Splice_Site INS - - A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr7:121023066_121023067insA ENST00000359943.3 - 2 173 c.e2-2 NM_001040020.1|NM_014888.2 NP_001035109.1|NP_055703.1 Q92520 FAM3C_HUMAN family with sequence similarity 3, member C multicellular organismal development cytoplasmic membrane-bounded vesicle|extracellular region cytokine activity kidney(1)|lung(8) 9 all_neural(327;0.117) AATATGCTCCTAAAAAATCAAA 0.297 12 55 --- --- --- --- EPHB6 2051 broad.mit.edu 37 7 142563321 142563322 + Frame_Shift_Ins INS - - T rs144712301 byFrequency TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr7:142563321_142563322insT ENST00000392957.2 + 8 1825_1826 c.1038_1039insT c.(1036-1041)cctttgfs p.L347fs EPHB6_ENST00000442129.1_Frame_Shift_Ins_p.L347fs|EPHB6_ENST00000411471.2_Frame_Shift_Ins_p.L70fs NM_004445.3 NP_004436.2 O15197 EPHB6_HUMAN EPH receptor B6 347 Cys-rich. extracellular region|integral to plasma membrane ATP binding|ephrin receptor activity p.V332I(1) NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 87 Melanoma(164;0.059) CAGCAGCCCCCGTTTGCCCCTG 0.653 15 32 --- --- --- --- TMEM139 135932 broad.mit.edu 37 7 142983845 142983845 + Frame_Shift_Del DEL C C - TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr7:142983845delC ENST00000359333.3 + 3 1087 c.574delC c.(574-576)ccfs p.P193fs TMEM139_ENST00000410004.1_Frame_Shift_Del_p.P193fs|AC073342.12_ENST00000446192.1_RNA|TMEM139_ENST00000471161.1_3'UTR|TMEM139_ENST00000409102.1_Frame_Shift_Del_p.P193fs|TMEM139_ENST00000409541.1_Frame_Shift_Del_p.P193fs|TMEM139_ENST00000409244.1_Frame_Shift_Del_p.P193fs NM_001242775.1 NP_001229704.1 Q8IV31 TM139_HUMAN transmembrane protein 139 193 integral to membrane endometrium(1)|lung(4)|ovary(1)|prostate(1) 7 Melanoma(164;0.059) TCTGACTCCACCCCCTGCCTA 0.532 20 135 --- --- --- --- ATG9B 285973 broad.mit.edu 37 7 150720172 150720172 + Frame_Shift_Del DEL G G - TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr7:150720172delG ENST00000605938.1 - 4 856 c.781delC c.(781-783)tgfs p.L261fs ATG9B_ENST00000377974.2_Frame_Shift_Del_p.L261fs|ATG9B_ENST00000494791.1_5'UTR|ATG9B_ENST00000605952.1_Frame_Shift_Del_p.L261fs|ATG9B_ENST00000444312.1_5'UTR NM_173681.5 NP_775952.4 Q674R7 ATG9B_HUMAN autophagy related 9B 261 autophagic vacuole assembly autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1) 14 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GCATCTGACAGGGTCACTTTG 0.547 41 254 --- --- --- --- BRF2 55290 broad.mit.edu 37 8 37702265 37702267 + In_Frame_Del DEL CTC CTC - TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr8:37702265_37702267delCTC ENST00000220659.6 - 4 1121_1123 c.1001_1003delGAG c.(1000-1005)gaa>g p.GE336del BRF2_ENST00000520601.1_3'UTR|GPR124_ENST00000315215.7_3'UTR NM_018310.3 NP_060780.2 Q9HAW0 BRF2_HUMAN BRF2, RNA polymerase III transcription initiation factor 50 kDa subunit 336 regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter|transcription initiation, DNA-dependent nucleoplasm protein binding|zinc ion binding breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1) 12 Lung NSC(58;0.118)|all_lung(54;0.195) BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;1.81e-10) ACCTCCCCTTCTCCTTGCCCCTG 0.626 8 41 --- --- --- --- RP1 6101 broad.mit.edu 37 8 55533712 55533713 + Frame_Shift_Ins INS - - T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr8:55533712_55533713insT ENST00000220676.1 + 2 334_335 c.186_187insT c.(184-189)tcttgafs p.*63fs NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 63 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) CCTTTAAGTCCTTTGATGCTCT 0.574 15 94 --- --- --- --- MMP16 4325 broad.mit.edu 37 8 89339378 89339378 + Frame_Shift_Del DEL C C - TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr8:89339378delC ENST00000286614.6 - 1 339 c.58delG c.(58-60)tgfs p.V20fs MMP16_ENST00000544227.1_5'UTR|RP11-586K2.1_ENST00000523254.1_RNA NM_005941.4 NP_005932.2 P51512 MMP16_HUMAN matrix metallopeptidase 16 (membrane-inserted) 20 collagen catabolic process|proteolysis cell surface|integral to plasma membrane|proteinaceous extracellular matrix calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 81 AAGAAAAACACCCCCGAATGA 0.468 18 83 --- --- --- --- TRPS1 7227 broad.mit.edu 37 8 116426269 116426270 + Frame_Shift_Ins INS - - T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr8:116426269_116426270insT ENST00000395715.3 - 7 4443_4444 c.3866_3867insA c.(3865-3867)aggfs p.R1289fs TRPS1_ENST00000220888.5_Frame_Shift_Ins_p.R1276fs|TRPS1_ENST00000519076.1_Frame_Shift_Ins_p.R1030fs|TRPS1_ENST00000520276.1_Frame_Shift_Ins_p.R1280fs NM_014112.2 NP_054831.2 Q9UHF7 TRPS1_HUMAN trichorhinophalangeal syndrome I 1276 negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.N1289fs*>6(1)|p.N1276fs*>6(1) autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2) 111 all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219) Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12) TAGGTTTTCCATTTTTTTCCAC 0.381 Langer-Giedion syndrome 38 61 --- --- --- --- CYC1 1537 broad.mit.edu 37 8 145150876 145150876 + Frame_Shift_Del DEL C C - TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr8:145150876delC ENST00000318911.4 + 2 343 c.270delC c.(268-270)cafs p.H90fs NM_001916.3 NP_001907.2 P08574 CY1_HUMAN cytochrome c-1 90 respiratory electron transport chain|transport cell junction|integral to membrane|mitochondrial inner membrane|respiratory chain electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(2) 15 all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) TGGAGCTGCACCCCCCCAGCT 0.667 OREG0019052 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 25 65 --- --- --- --- CA9 768 broad.mit.edu 37 9 35676075 35676075 + Frame_Shift_Del DEL C C - TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr9:35676075delC ENST00000378357.4 + 4 723 c.619delC c.(619-621)ctfs p.P208fs NM_001216.2 NP_001207.2 Q16790 CAH9_HUMAN carbonic anhydrase IX 208 Catalytic. one-carbon metabolic process integral to membrane|microvillus membrane|nucleolus carbonate dehydratase activity|zinc ion binding kidney(1)|large_intestine(3)|lung(5)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1) 17 all_epithelial(49;0.217) Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) ACTGACCCTGCCTCCTGGGCT 0.711 9 13 --- --- --- --- FGD3 89846 broad.mit.edu 37 9 95738954 95738954 + Frame_Shift_Del DEL C C - TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr9:95738954delC ENST00000375482.3 + 3 912 c.416delC c.(415-417)acfs p.T139fs FGD3_ENST00000416701.2_Frame_Shift_Del_p.T139fs|FGD3_ENST00000468206.1_3'UTR|FGD3_ENST00000337352.6_Frame_Shift_Del_p.T139fs NM_001083536.1 NP_001077005.1 Q5JSP0 FGD3_HUMAN FYVE, RhoGEF and PH domain containing 3 139 actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1) 17 TCTGAGAACACCCCCCAGAAG 0.662 8 44 --- --- --- --- PALM2-AKAP2 445815 broad.mit.edu 37 9 112899233 112899234 + Frame_Shift_Ins INS - - A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr9:112899233_112899234insA ENST00000374530.3 + 8 1589_1590 c.1409_1410insA c.(1408-1410)gaafs p.E470fs PALM2-AKAP2_ENST00000302798.7_Frame_Shift_Ins_p.E470fs|AKAP2_ENST00000510514.5_Frame_Shift_Ins_p.E470fs|AKAP2_ENST00000434623.2_Frame_Shift_Ins_p.E328fs|AKAP2_ENST00000374525.1_Frame_Shift_Ins_p.E328fs|AKAP2_ENST00000259318.7_Frame_Shift_Ins_p.E239fs|AKAP2_ENST00000555236.1_Frame_Shift_Ins_p.E470fs NM_007203.4|NM_147150.2 NP_009134.1|NP_671492.1 Q9Y2D5 AKAP2_HUMAN 239 enzyme binding p.K471fs*69(1)|p.K329fs*69(1) breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 44 GGCATTGCAGCAAAATGGTGGA 0.525 17 66 --- --- --- --- FRMD4A 55691 broad.mit.edu 37 10 13696452 13696452 + Frame_Shift_Del DEL G G - TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr10:13696452delG ENST00000357447.2 - 23 3382 c.3014delC c.(3013-3015)cafs p.P1005fs FRMD4A_ENST00000378503.1_Frame_Shift_Del_p.P1005fs|FRMD4A_ENST00000358621.4_Frame_Shift_Del_p.P990fs NM_018027.3 NP_060497.3 Q9P2Q2 FRM4A_HUMAN FERM domain containing 4A 1005 Ser-rich. cytoplasm|cytoskeleton binding breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 41 GGGGCTGCTTGGGGGGGTGGC 0.537 22 80 --- --- --- --- A1CF 29974 broad.mit.edu 37 10 52575797 52575798 + Frame_Shift_Ins INS - - T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr10:52575797_52575798insT ENST00000395489.2 - 11 1484_1485 c.1088_1089insA c.(1087-1089)aagfs p.K363fs A1CF_ENST00000373995.3_Frame_Shift_Ins_p.K378fs|A1CF_ENST00000282641.2_Frame_Shift_Ins_p.K370fs|A1CF_ENST00000373993.1_Frame_Shift_Ins_p.K370fs|A1CF_ENST00000374001.1_Frame_Shift_Ins_p.K370fs|ASAH2B_ENST00000483649.1_3'UTR|A1CF_ENST00000493415.1_5'UTR|A1CF_ENST00000373997.3_Frame_Shift_Ins_p.K370fs|A1CF_ENST00000395495.1_Frame_Shift_Ins_p.K315fs NM_001198819.1 NP_001185748.1 Q9NQ94 A1CF_HUMAN APOBEC1 complementation factor 370 Required for nuclear localization. cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm nucleotide binding|protein binding|single-stranded RNA binding NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3) 29 TAATGGCTCTGTTGCTGAGATG 0.480 29 69 --- --- --- --- MBL2 4153 broad.mit.edu 37 10 54528169 54528169 + Frame_Shift_Del DEL G G - TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr10:54528169delG ENST00000373968.3 - 4 539 c.475delC c.(475-477)agfs p.Q159fs MBL2_ENST00000493043.1_Intron NM_000242.2 NP_000233.1 P11226 MBL2_HUMAN mannose-binding lectin (protein C) 2, soluble 159 C-type lectin. acute-phase response|complement activation, classical pathway|complement activation, lectin pathway|defense response to Gram-positive bacterium|negative regulation of growth of symbiont in host|opsonization|response to oxidative stress collagen|extracellular space bacterial cell surface binding|calcium-dependent protein binding|eukaryotic cell surface binding|mannose binding|receptor binding breast(1)|endometrium(2)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 21 ACAGAGGCCTGGAACTTGACA 0.493 49 147 --- --- --- --- TNKS2 80351 broad.mit.edu 37 10 93601946 93601946 + Frame_Shift_Del DEL A A - TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr10:93601946delA ENST00000371627.4 + 16 2236 c.1857delA c.(1855-1857)acfs p.T619fs NM_025235.3 NP_079511.1 Q9H2K2 TNKS2_HUMAN tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2 619 positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm NAD+ ADP-ribosyltransferase activity|protein binding p.N622fs*29(1) biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1) 48 Colorectal(252;0.162) CAGACCCTACAAAAAAAAACA 0.393 7 54 --- --- --- --- SH3PXD2A 9644 broad.mit.edu 37 10 105362730 105362732 + In_Frame_Del DEL AGG AGG - TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr10:105362730_105362732delAGG ENST00000369774.4 - 15 2519_2521 c.2243_2245delCCT c.(2242-2247)tgt>t p.SC748del SH3PXD2A_ENST00000540321.1_In_Frame_Del_p.SC615del|SH3PXD2A_ENST00000538130.1_In_Frame_Del_p.SC583del|SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000355946.2_In_Frame_Del_p.SC720del|SH3PXD2A_ENST00000315994.6_5'UTR Q5TCZ1 SPD2A_HUMAN SH3 and PX domains 2A 748 cell communication|superoxide metabolic process cell junction|cell projection|cytoplasm|podosome phosphatidylinositol binding|protein binding breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1) 38 Colorectal(252;0.0815)|Breast(234;0.131) Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119) GCCCGGGGACAGGAGGTCAGCCC 0.626 43 236 --- --- --- --- C10orf137 26098 broad.mit.edu 37 10 127417621 127417621 + Frame_Shift_Del DEL C C - TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr10:127417621delC ENST00000356792.4 + 7 1074 c.842delC c.(841-843)gcfs p.A281fs C10orf137_ENST00000337623.3_Intron NM_001202438.1 NP_001189367.1 Q3B7T1 EDRF1_HUMAN chromosome 10 open reading frame 137 281 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 61 all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936) GTGGCCTCAGCCCCCAAAGAA 0.463 4 9 --- --- --- --- MTG1 92170 broad.mit.edu 37 10 135211981 135211982 + Frame_Shift_Ins INS - - T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr10:135211981_135211982insT ENST00000468317.2 + 5 595_596 c.340_341insT c.(340-342)tttfs p.F114fs MTG1_ENST00000317502.6_Frame_Shift_Ins_p.F109fs|MTG1_ENST00000477902.2_Frame_Shift_Ins_p.F68fs AAAAAATGTCATTTTTACCAAC 0.386 15 101 --- --- --- --- ART1 417 broad.mit.edu 37 11 3681478 3681478 + Frame_Shift_Del DEL C C - TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:3681478delC ENST00000250693.1 + 3 830 c.729delC c.(727-729)atfs p.I243fs NM_004314.2 NP_004305.2 P52961 NAR1_HUMAN ADP-ribosyltransferase 1 243 protein ADP-ribosylation anchored to membrane|integral to plasma membrane|sarcoplasmic reticulum membrane NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity endometrium(1)|large_intestine(2)|liver(1)|lung(3)|skin(1) 8 Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195) Becaplermin(DB00102) AGGTGCTGATCCCCCCCTTTG 0.607 10 79 --- --- --- --- TRIM3 10612 broad.mit.edu 37 11 6472177 6472178 + Frame_Shift_Ins INS - - T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:6472177_6472178insT ENST00000525074.1 - 9 2208_2209 c.1814_1815insA c.(1813-1815)aggfs p.R605fs TRIM3_ENST00000537602.1_Frame_Shift_Ins_p.R527fs|TRIM3_ENST00000536344.1_Frame_Shift_Ins_p.R486fs|TRIM3_ENST00000345851.3_Frame_Shift_Ins_p.R605fs|TRIM3_ENST00000359518.3_Frame_Shift_Ins_p.R605fs NM_001248006.1 NP_001234935.1 O75382 TRIM3_HUMAN tripartite motif containing 3 605 nervous system development|protein transport early endosome protein C-terminus binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3) 27 all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212) Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135) CCAGTTTGCCATTGGGCTGGAA 0.579 22 69 --- --- --- --- MUC15 143662 broad.mit.edu 37 11 26587427 26587427 + Frame_Shift_Del DEL T T - TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:26587427delT ENST00000436318.2 - 2 193 c.60delA c.(58-60)aafs p.K20fs MUC15_ENST00000455601.2_5'UTR|ANO3_ENST00000531568.1_Intron|MUC15_ENST00000527569.1_Frame_Shift_Del_p.K20fs|ANO3_ENST00000537978.1_Intron|ANO3_ENST00000256737.3_Intron|MUC15_ENST00000529533.1_Frame_Shift_Del_p.K20fs|ANO3_ENST00000525139.1_Intron|MUC15_ENST00000281268.8_Frame_Shift_Del_p.K20fs Q8N387 MUC15_HUMAN mucin 15, cell surface associated 0 extracellular region|integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 25 TTGGTATTGGTTTTTTTTTAA 0.289 9 36 --- --- --- --- PHF21A 51317 broad.mit.edu 37 11 45955607 45955607 + Frame_Shift_Del DEL G G - TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:45955607delG ENST00000257821.4 - 18 2581 c.1958delC c.(1957-1959)ctfs p.P653fs PHF21A_ENST00000418153.2_Frame_Shift_Del_p.P652fs|PHF21A_ENST00000323180.6_Frame_Shift_Del_p.P606fs NM_001101802.1 NP_001095272.1 Q96BD5 PF21A_HUMAN PHD finger protein 21A 652 Required for transcriptional repression. blood coagulation|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|transcription, DNA-dependent histone deacetylase complex DNA binding|zinc ion binding central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2) 29 GGCATTGGCAGGGGGGGTGCA 0.617 9 51 --- --- --- --- OR1S2 219958 broad.mit.edu 37 11 57970986 57970987 + Frame_Shift_Ins INS - - A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:57970986_57970987insA ENST00000302592.6 - 1 666_667 c.667_668insT c.(667-669)cttfs p.L223fs NM_001004459.1 NP_001004459.1 Q8NGQ3 OR1S2_HUMAN olfactory receptor, family 1, subfamily S, member 2 223 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1) 46 Breast(21;0.0589) GAGTACAAAGGGGAAGATGATA 0.450 23 71 --- --- --- --- MS4A6A 64231 broad.mit.edu 37 11 59947304 59947304 + Frame_Shift_Del DEL A A - TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:59947304delA ENST00000532169.1 - 4 795 c.282delT c.(280-282)ttfs p.F94fs MS4A6A_ENST00000323961.3_Splice_Site_p.F95_splice|MS4A6A_ENST00000533023.1_Intron|MS4A6A_ENST00000529054.1_Splice_Site_p.F123_splice|MS4A6A_ENST00000529906.1_5'UTR|MS4A6A_ENST00000420732.2_Splice_Site_p.F95_splice|MS4A6A_ENST00000412309.2_Splice_Site_p.F123_splice|MS4A6A_ENST00000528851.1_Splice_Site_p.F95_splice|MS4A6A_ENST00000530839.1_Splice_Site_p.F95_splice|MS4A6A_ENST00000426738.2_Intron Q9H2W1 M4A6A_HUMAN membrane-spanning 4-domains, subfamily A, member 6A 94 integral to membrane receptor activity endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 CTCTACTCACAAAAAAGGGTC 0.478 15 61 --- --- --- --- SLC3A2 6520 broad.mit.edu 37 11 62649528 62649529 + Frame_Shift_Ins INS - - A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:62649528_62649529insA ENST00000377892.1 + 6 1208_1209 c.984_985insA c.(982-987)gcaaaafs p.AK328fs SLC3A2_ENST00000536981.1_5'UTR|SLC3A2_ENST00000535296.1_Frame_Shift_Ins_p.AK266fs|SLC3A2_ENST00000377890.2_Frame_Shift_Ins_p.AK297fs|SLC3A2_ENST00000377889.2_Frame_Shift_Ins_p.AK235fs|SLC3A2_ENST00000377891.2_Frame_Shift_Ins_p.AK298fs|SLC3A2_ENST00000538682.1_3'UTR|SLC3A2_ENST00000338663.7_Frame_Shift_Ins_p.AK196fs P08195 4F2_HUMAN solute carrier family 3 (amino acid transporter heavy chain), member 2 297 blood coagulation|carbohydrate metabolic process|cell growth|cellular nitrogen compound metabolic process|leucine import|leukocyte migration|tryptophan transport apical plasma membrane|cell surface|integral to membrane|melanosome calcium:sodium antiporter activity|catalytic activity|cation binding|neutral amino acid transmembrane transporter activity|protein binding p.K331fs*31(1) endometrium(1)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2) 22 TGCAATCGGCTAAAAAAAAGAG 0.460 13 128 --- --- --- --- CHRM1 1128 broad.mit.edu 37 11 62677830 62677831 + Frame_Shift_Ins INS - - C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:62677830_62677831insC ENST00000306960.3 - 2 1283_1284 c.742_743insG c.(742-744)tgafs p.*248fs AP000438.2_ENST00000543624.1_RNA NM_000738.2 NP_000729.2 P11229 ACM1_HUMAN cholinergic receptor, muscarinic 1 248 activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell proliferation|nervous system development|positive regulation of cell proliferation|protein modification process cell junction|integral to plasma membrane|membrane fraction|postsynaptic membrane muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity|protein binding large_intestine(5)|lung(3)|stomach(1) 9 Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Benztropine(DB00245)|Bethanechol(DB01019)|Biperiden(DB00810)|Buclizine(DB00354)|Carbachol(DB00411)|Carbinoxamine(DB00748)|Cevimeline(DB00185)|Clidinium(DB00771)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Cyclopentolate(DB00979)|Cycrimine(DB00942)|Desipramine(DB01151)|Dicyclomine(DB00804)|Diphenidol(DB01231)|Doxylamine(DB00366)|Ethopropazine(DB00392)|Flavoxate(DB01148)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methantheline(DB00940)|Methotrimeprazine(DB01403)|Methylscopolamine(DB00462)|Metixene(DB00340)|Metoclopramide(DB01233)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Oxyphenonium(DB00219)|Pilocarpine(DB01085)|Pirenzepine(DB00670)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propantheline(DB00782)|Propiomazine(DB00777)|Quinacrine(DB01103)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trospium(DB00209) TGAGCCCTCAGCCCCTGGCTGA 0.668 18 79 --- --- --- --- LTBP3 4054 broad.mit.edu 37 11 65320986 65320986 + Frame_Shift_Del DEL G G - TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:65320986delG ENST00000301873.5 - 4 1148 c.880delC c.(880-882)tcfs p.L294fs LTBP3_ENST00000536982.1_Intron|LTBP3_ENST00000322147.4_Frame_Shift_Del_p.L294fs NM_001130144.2 NP_001123616.1 Q9NS15 LTBP3_HUMAN latent transforming growth factor beta binding protein 3 294 TB 1. extracellular region calcium ion binding|growth factor binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3) 23 AGGCCGGGGAGGGGGTTGCTG 0.662 8 40 --- --- --- --- RELA 5970 broad.mit.edu 37 11 65426244 65426245 + Frame_Shift_Del DEL AG AG - TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:65426244_65426245delAG ENST00000525693.1 - 7 670_671 c.608_609delCT c.(607-609)tfs p.S203fs RELA_ENST00000308639.9_Frame_Shift_Del_p.S200fs|RELA_ENST00000406246.3_Frame_Shift_Del_p.S203fs Q04206 TF65_HUMAN v-rel avian reticuloendotheliosis viral oncogene homolog A 203 RHD. anti-apoptosis|cellular defense response|cytokine-mediated signaling pathway|defense response to virus|inflammatory response|innate immune response|interspecies interaction between organisms|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of inflammatory response|response to interleukin-1|response to UV-B|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|transcription factor complex activating transcription factor binding|chromatin binding|identical protein binding|NF-kappaB binding|phosphate binding|protein kinase binding|protein N-terminus binding|repressing transcription factor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(11)|ovary(1)|urinary_tract(1) 19 GGCAGCTGCCAGAGTTTCGGTT 0.584 26 157 --- --- --- --- SNX32 254122 broad.mit.edu 37 11 65620007 65620008 + Frame_Shift_Del DEL CT CT - TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:65620007_65620008delCT ENST00000308342.6 + 10 1322_1323 c.897_898delCT c.(895-900)gacafs p.DS299fs NM_152760.2 NP_689973.2 Q86XE0 SNX32_HUMAN sorting nexin 32 299 cell communication|protein transport phosphatidylinositol binding endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 READ - Rectum adenocarcinoma(159;0.171) ACATGCGTGACTCACAGGCAGC 0.629 12 71 --- --- --- --- DRAP1 10589 broad.mit.edu 37 11 65688886 65688888 + In_Frame_Del DEL GAA GAA - TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:65688886_65688888delGAA ENST00000312515.2 + 7 843_845 c.598_600delGAA c.(598-600)del p.E201del DRAP1_ENST00000527119.1_In_Frame_Del_p.E157del|DRAP1_ENST00000532933.1_In_Frame_Del_p.E181del|DRAP1_ENST00000376991.2_In_Frame_Del_p.E208del NM_006442.3 NP_006433.2 Q14919 NC2A_HUMAN DR1-associated protein 1 (negative cofactor 2 alpha) 201 negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(1) 5 READ - Rectum adenocarcinoma(159;0.166) TGAAGAGGACGAAGAAGATTACG 0.601 9 214 --- --- --- --- CCDC87 55231 broad.mit.edu 37 11 66359230 66359230 + Frame_Shift_Del DEL G G - TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:66359230delG ENST00000333861.3 - 1 1324 c.1257delC c.(1255-1257)ccfs p.P419fs NM_018219.2 NP_060689.2 Q9NVE4 CCD87_HUMAN coiled-coil domain containing 87 419 central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 28 GAAAGGATTTGGGGGGCTGGG 0.582 26 82 --- --- --- --- PPFIA1 8500 broad.mit.edu 37 11 70218585 70218586 + Frame_Shift_Del DEL AC AC - TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:70218585_70218586delAC ENST00000253925.7 + 23 3259_3260 c.3044_3045delAC c.(3043-3045)afs p.N1015fs PPFIA1_ENST00000389547.3_Frame_Shift_Del_p.N1015fs|AP000487.5_ENST00000530690.1_RNA|PPFIA1_ENST00000530548.1_3'UTR NM_003626.3 NP_003617.1 Q13136 LIPA1_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1 1015 SAM 2. cell-matrix adhesion cytoplasm protein binding|signal transducer activity breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 65 BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513) CCAAATAGAAACAGTTTCCAGT 0.337 7 85 --- --- --- --- ATG16L2 89849 broad.mit.edu 37 11 72535842 72535843 + Frame_Shift_Del DEL TG TG - TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:72535842_72535843delTG ENST00000321297.5 + 9 1089_1090 c.951_952delTG c.(949-954)cctgfs p.PV317fs ATG16L2_ENST00000534905.1_Intron NM_033388.1 NP_203746.1 Q8NAA4 A16L2_HUMAN autophagy related 16-like 2 (S. cerevisiae) 317 autophagy|protein transport cytoplasm protein binding breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9) 14 BRCA - Breast invasive adenocarcinoma(5;2.73e-06) AGATCATCCCTGTGTGTGTGGC 0.594 12 71 --- --- --- --- RPS3 6188 broad.mit.edu 37 11 75113470 75113472 + In_Frame_Del DEL AGG AGG - TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:75113470_75113472delAGG ENST00000531188.1 + 4 392_394 c.330_332delAGG c.(328-333)cta>ct p.LG110del RPS3_ENST00000278572.6_In_Frame_Del_p.LG126del|RPS3_ENST00000526608.1_In_Frame_Del_p.LG98del|RPS3_ENST00000530164.1_In_Frame_Del_p.LG110del|RPS3_ENST00000524851.1_In_Frame_Del_p.LG110del|RPS3_ENST00000534440.1_Intron|RPS3_ENST00000527446.1_In_Frame_Del_p.LG110del|RPS3_ENST00000529285.1_3'UTR NM_001005.4|NM_001260506.1|NM_001260507.1 NP_000996.2|NP_001247435.1|NP_001247436.1 P23396 RS3_HUMAN ribosomal protein S3 110 activation of caspase activity|endocrine pancreas development|induction of apoptosis|negative regulation of DNA repair|negative regulation of NF-kappaB transcription factor activity|response to DNA damage stimulus|translational elongation|translational initiation|translational termination|viral transcription cytosolic small ribosomal subunit|nucleus|ruffle membrane damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|endonuclease activity|iron-sulfur cluster binding|mRNA binding|NF-kappaB binding|protein kinase binding|structural constituent of ribosome endometrium(1)|kidney(1)|large_intestine(2)|lung(2) 6 ACAAACTCCTAGGAGGGCTTGCT 0.463 34 98 --- --- --- --- PCF11 51585 broad.mit.edu 37 11 82877539 82877540 + Frame_Shift_Del DEL TT TT - TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:82877539_82877540delTT ENST00000298281.4 + 5 2052_2053 c.1600_1601delTT c.(1600-1602)tfs p.F534fs NM_015885.3 NP_056969.2 O94913 PCF11_HUMAN PCF11 cleavage and polyadenylation factor subunit 534 mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage factor complex cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1) 33 TATGGAAGAGTTTACACCACCT 0.455 26 144 --- --- --- --- C11orf88 399949 broad.mit.edu 37 11 111385572 111385572 + Frame_Shift_Del DEL G G - TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:111385572delG ENST00000529167.1 + 1 63 c.63delG c.(61-63)ccfs p.P21fs C11orf88_ENST00000332814.6_Frame_Shift_Del_p.P21fs|RP11-794P6.6_ENST00000530283.1_RNA|C11orf88_ENST00000375618.4_Frame_Shift_Del_p.P21fs Q6PI97 CK088_HUMAN chromosome 11 open reading frame 88 21 p.P21P(2) endometrium(1)|large_intestine(3)|lung(2) 6 TGTGCCCCCCGGGATTACTGG 0.572 OREG0021329 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 33 120 --- --- --- --- APOA5 116519 broad.mit.edu 37 11 116661044 116661044 + Frame_Shift_Del DEL G G - TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:116661044delG ENST00000542499.1 - 4 973 c.901delC c.(901-903)gcfs p.R301fs APOA5_ENST00000227665.4_Frame_Shift_Del_p.R301fs NM_001166598.1|NM_052968.4 NP_001160070.1|NP_443200.2 Q6Q788 APOA5_HUMAN apolipoprotein A-V 301 acylglycerol homeostasis|cholesterol homeostasis|lipid transport|lipoprotein metabolic process|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor-mediated endocytosis|positive regulation of triglyceride catabolic process|positive regulation of very-low-density lipoprotein particle remodeling|tissue regeneration|triglyceride catabolic process|triglyceride homeostasis chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle enzyme binding|heparin binding|lipoprotein lipase activator activity|low-density lipoprotein particle receptor binding|phosphatidylcholine binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1) 14 all_hematologic(175;0.0487) all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;4.93e-06)|all cancers(92;0.000123)|OV - Ovarian serous cystadenocarcinoma(223;0.149) TCGATGGCGCGAGTGAAGGCA 0.647 40 119 --- --- --- --- PCSK7 9159 broad.mit.edu 37 11 117079625 117079626 + Frame_Shift_Ins INS - - G rs145981335 by1000genomes TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:117079625_117079626insG ENST00000320934.3 - 13 2308_2309 c.1678_1679insC c.(1678-1680)cagfs p.Q560fs PCSK7_ENST00000540028.1_Frame_Shift_Ins_p.Q201fs NM_004716.2 NP_004707.2 Q16549 PCSK7_HUMAN proprotein convertase subtilisin/kexin type 7 560 Homo B/P. peptide hormone processing integral to Golgi membrane serine-type endopeptidase activity NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1) 16 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537) GTCCATGCTGCGGGGGGCGCCG 0.594 T IGH@ MLCLS 7 13 --- --- --- --- UPK2 7379 broad.mit.edu 37 11 118827670 118827670 + Frame_Shift_Del DEL C C - rs150164163 TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:118827670delC ENST00000264031.2 + 2 189 c.154delC c.(154-156)acfs p.H52fs UPK2_ENST00000534788.1_3'UTR NM_006760.3 NP_006751.1 O00526 UPK2_HUMAN uroplakin 2 52 cellular membrane organization|epithelial cell differentiation|multicellular organismal development integral to endoplasmic reticulum membrane|integral to plasma membrane kidney(1)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1) 5 all_hematologic(175;0.0839) Medulloblastoma(222;0.0523)|all_hematologic(192;0.122)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;7.47e-05) GCCCCCCTGTCACCTCACAGG 0.597 OREG0021391 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 25 103 --- --- --- --- DPAGT1 1798 broad.mit.edu 37 11 118969151 118969151 + Frame_Shift_Del DEL G G - TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:118969151delG ENST00000409993.2 - 7 2241 c.690delC c.(688-690)ccfs p.P230fs DPAGT1_ENST00000354202.4_Frame_Shift_Del_p.P230fs|DPAGT1_ENST00000432443.2_Frame_Shift_Del_p.P123fs Q9H3H5 GPT_HUMAN dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase) 230 dolichol biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein oligomerization integral to endoplasmic reticulum membrane|microsome phospho-N-acetylmuramoyl-pentapeptide-transferase activity|transferase activity, transferring glycosyl groups|UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity p.?(1) breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2) 17 all_hematologic(175;0.0977) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.55e-05) TGAAAAAAAAGGGTATCATGA 0.438 12 198 --- --- --- --- CCDC15 80071 broad.mit.edu 37 11 124857672 124857673 + Frame_Shift_Ins INS - - C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:124857672_124857673insC ENST00000529051.1 + 8 1809_1810 c.1550_1551insC c.(1549-1551)cccfs p.P517fs CCDC15_ENST00000344762.5_Frame_Shift_Ins_p.P517fs Q0P6D6 CCD15_HUMAN coiled-coil domain containing 15 517 centrosome central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1) 23 all_hematologic(175;0.215) Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413) CAGCATGTTCTCCCCAAAGACC 0.411 44 349 --- --- --- --- JAM3 83700 broad.mit.edu 37 11 134018468 134018468 + Frame_Shift_Del DEL G G - TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr11:134018468delG ENST00000299106.4 + 7 898 c.739delG c.(739-741)ggfs p.G248fs JAM3_ENST00000529443.2_Frame_Shift_Del_p.G293fs|JAM3_ENST00000441717.3_Frame_Shift_Del_p.G197fs Q9BX67 JAM3_HUMAN junctional adhesion molecule 3 248 angiogenesis|blood coagulation|regulation of neutrophil chemotaxis cell-cell contact zone|desmosome|extracellular space|integral to membrane integrin binding breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1) 10 all_hematologic(175;0.127) all_cancers(12;1.06e-21)|all_epithelial(12;3.37e-16)|all_lung(97;7.03e-06)|Lung NSC(97;1.67e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0506)|Esophageal squamous(93;0.0566) Epithelial(10;1.55e-09)|BRCA - Breast invasive adenocarcinoma(10;1.35e-08)|all cancers(11;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00402)|Lung(977;0.245) CGGAATTATTGGGGGGGTTCT 0.483 19 105 --- --- --- --- CLEC4A 50856 broad.mit.edu 37 12 8281937 8281937 + Frame_Shift_Del DEL A A - TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr12:8281937delA ENST00000229332.5 + 3 524 c.277delA c.(277-279)aafs p.K94fs CLEC4A_ENST00000352620.3_Intron|CLEC4A_ENST00000345999.3_Intron|CLEC4A_ENST00000360500.3_Frame_Shift_Del_p.K55fs NM_016184.3|NM_194447.2|NM_194450.2 NP_057268.1|NP_919429.2|NP_919432.1 Q9UMR7 CLC4A_HUMAN C-type lectin domain family 4, member A 94 cell adhesion|cell surface receptor linked signaling pathway|innate immune response integral to plasma membrane sugar binding|transmembrane receptor activity cervix(1)|endometrium(3)|large_intestine(2)|lung(4)|prostate(1) 11 Kidney(36;0.0915) GGAGTGTGTGAAAAAAAATAT 0.333 8 37 --- --- --- --- GRIN2B 2904 broad.mit.edu 37 12 14019043 14019044 + Frame_Shift_Ins INS - - G rs77738206 TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr12:14019043_14019044insG ENST00000279593.3 - 2 308_309 c.99_100insC c.(97-102)ccgcatfs p.H34fs NM_000834.3 NP_000825.2 Q13224 NMDE2_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2B 34 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) ATGCCAATGCTGGGGGGGCTCT 0.589 7 55 --- --- --- --- BCAT1 586 broad.mit.edu 37 12 25034329 25034329 + Frame_Shift_Del DEL T T - TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr12:25034329delT ENST00000261192.7 - 4 822 c.296delA c.(295-297)agfs p.K99fs BCAT1_ENST00000539780.1_Intron|BCAT1_ENST00000538118.1_Frame_Shift_Del_p.K98fs|BCAT1_ENST00000342945.5_Intron|BCAT1_ENST00000539282.1_Frame_Shift_Del_p.K111fs|BCAT1_ENST00000544418.1_5'UTR NM_001178091.1|NM_005504.6 NP_001171562.1|NP_005495.2 P54687 BCAT1_HUMAN branched chain amino-acid transaminase 1, cytosolic 99 branched chain family amino acid biosynthetic process|branched chain family amino acid catabolic process|cell proliferation|G1/S transition of mitotic cell cycle cytosol L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity breast(1)|large_intestine(1)|lung(3)|prostate(2) 7 Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196) Gabapentin(DB00996)|L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)|Pyridoxal Phosphate(DB00114) TCGAAATGCCTTCAATCCTTC 0.418 14 34 --- --- --- --- CPNE8 144402 broad.mit.edu 37 12 39118672 39118673 + Frame_Shift_Ins INS - - T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr12:39118672_39118673insT ENST00000331366.5 - 12 923_924 c.827_828insA c.(826-828)aaafs p.K276fs CPNE8_ENST00000360449.3_Frame_Shift_Ins_p.K264fs NM_153634.2 NP_705898.1 Q86YQ8 CPNE8_HUMAN copine VIII 276 NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2) 21 Esophageal squamous(101;0.187) Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157) TATATTTTTTCTTTTTTCCTTT 0.228 26 45 --- --- --- --- KIF21A 55605 broad.mit.edu 37 12 39763594 39763594 + Frame_Shift_Del DEL T T - TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr12:39763594delT ENST00000395670.3 - 3 806 c.387delA c.(385-387)aafs p.K129fs KIF21A_ENST00000541463.2_Frame_Shift_Del_p.K129fs|KIF21A_ENST00000361961.3_Frame_Shift_Del_p.K129fs|KIF21A_ENST00000361418.5_Frame_Shift_Del_p.K129fs|KIF21A_ENST00000544797.2_Frame_Shift_Del_p.K129fs Q7Z4S6 KI21A_HUMAN kinesin family member 21A 129 Kinesin-motor. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 86 Lung NSC(34;0.179)|all_lung(34;0.213) TTGCTATGTGTTTTTTTTCTT 0.318 9 47 --- --- --- --- HDAC7 51564 broad.mit.edu 37 12 48189044 48189045 + Frame_Shift_Ins INS - - G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr12:48189044_48189045insG ENST00000080059.7 - 11 1205_1206 c.1206_1207insC c.(1204-1209)ccgtgcfs p.C403fs HDAC7_ENST00000380610.4_Frame_Shift_Ins_p.C420fs|HDAC7_ENST00000427332.2_Frame_Shift_Ins_p.C364fs|HDAC7_ENST00000354334.3_Frame_Shift_Ins_p.C366fs|HDAC7_ENST00000552960.1_Frame_Shift_Ins_p.C386fs NM_015401.3 NP_056216.2 Q8WUI4 HDAC7_HUMAN histone deacetylase 7 364 Transcription repression 2 (By similarity). negative regulation of interleukin-2 production|negative regulation of osteoblast differentiation|positive regulation of cell migration involved in sprouting angiogenesis|transcription, DNA-dependent cytoplasm|histone deacetylase complex activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 GBM - Glioblastoma multiforme(48;0.137) GCGGTGGCACTGGGGGGCAGGG 0.658 11 87 --- --- --- --- FAM186B 84070 broad.mit.edu 37 12 49993443 49993445 + In_Frame_Del DEL CTT CTT - TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr12:49993443_49993445delCTT ENST00000544141.1 - 4 2307_2309 c.1708_1710delAAG c.(1708-1710)del p.K570del FAM186B_ENST00000257894.2_In_Frame_Del_p.K660del|FAM186B_ENST00000551047.1_Intron Q8IYM0 F186B_HUMAN family with sequence similarity 186, member B 660 protein complex breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 TGTGGTACACCTTCTTCTTAATA 0.542 15 52 --- --- --- --- AGAP2 116986 broad.mit.edu 37 12 58128116 58128116 + Frame_Shift_Del DEL C C - TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr12:58128116delC ENST00000257897.3 - 4 464 c.379delG c.(379-381)cafs p.A127fs AGAP2_ENST00000547588.1_Frame_Shift_Del_p.A463fs NM_014770.3 NP_055585.1 Q99490 AGAP2_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 463 axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction mitochondrion|nucleolus ARF GTPase activator activity|GTP binding|zinc ion binding breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1) 48 GCATCAGGTGCCCCAGCTTCC 0.567 20 57 --- --- --- --- IL22 50616 broad.mit.edu 37 12 68646283 68646283 + Splice_Site DEL C C - TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr12:68646283delC ENST00000538666.1 - 4 467 c.e4+1 IL22_ENST00000328087.4_Splice_Site Q9GZX6 IL22_HUMAN interleukin 22 acute-phase response extracellular space cytokine activity|interleukin-22 receptor binding breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7) 14 Myeloproliferative disorder(1001;0.0255) Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018) GBM - Glioblastoma multiforme(7;5.06e-05)|BRCA - Breast invasive adenocarcinoma(357;0.00104) GCTGAACTTACACATGTGCTT 0.552 19 37 --- --- --- --- LIN7A 8825 broad.mit.edu 37 12 81283065 81283066 + Frame_Shift_Ins INS - - T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr12:81283065_81283066insT ENST00000552864.1 - 2 367_368 c.165_166insA c.(163-168)aatgctfs p.NA55fs NM_004664.2 NP_004655.1 O14910 LIN7A_HUMAN lin-7 homolog A (C. elegans) 55 L27. exocytosis|protein complex assembly|protein transport basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction L27 domain binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(2) 15 CTCTGAAGCACTTTTTTGAGGG 0.351 7 43 --- --- --- --- ZCCHC8 55596 broad.mit.edu 37 12 122966542 122966547 + In_Frame_Del DEL GTGGTA GTGGTA - TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr12:122966542_122966547delGTGGTA ENST00000543897.1 - 7 2461_2466 c.106_111delTACCAC c.(106-111)del p.YH36del ZCCHC8_ENST00000336229.4_In_Frame_Del_p.YH274del|ZCCHC8_ENST00000536306.1_In_Frame_Del_p.YH36del Q6NZY4 ZCHC8_HUMAN zinc finger, CCHC domain containing 8 274 catalytic step 2 spliceosome nucleic acid binding|protein binding|zinc ion binding endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 23 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202) CTTCTTCTGCGTGGTATCGCTGCTGG 0.393 12 19 --- --- --- --- CRYL1 51084 broad.mit.edu 37 13 21006393 21006393 + Frame_Shift_Del DEL G G - TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr13:21006393delG ENST00000382812.1 - 6 643 c.415delC c.(415-417)acfs p.H139fs CRYL1_ENST00000480748.1_5'UTR|CRYL1_ENST00000298248.7_Frame_Shift_Del_p.H161fs Q9Y2S2 CRYL1_HUMAN crystallin, lambda 1 161 fatty acid metabolic process cytosol 3-hydroxyacyl-CoA dehydrogenase activity|L-gulonate 3-dehydrogenase activity|NAD+ binding|protein homodimerization activity NS(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|upper_aerodigestive_tract(1) 14 all_cancers(29;2.27e-23)|all_epithelial(30;1.69e-19)|all_lung(29;8.29e-18)|Lung SC(185;0.0262)|Ovarian(182;0.0827)|Hepatocellular(188;0.244) all cancers(112;6.6e-05)|Epithelial(112;0.00178)|OV - Ovarian serous cystadenocarcinoma(117;0.0169)|Lung(94;0.0215)|GBM - Glioblastoma multiforme(144;0.0402)|LUSC - Lung squamous cell carcinoma(192;0.061) GTCTCCGGGTGGGGGACCAGC 0.592 23 47 --- --- --- --- RXFP2 122042 broad.mit.edu 37 13 32367143 32367144 + Frame_Shift_Ins INS - - A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr13:32367143_32367144insA ENST00000298386.2 + 16 1775_1776 c.1704_1705insA c.(1702-1707)ggaaaafs p.GK568fs RXFP2_ENST00000380314.1_Frame_Shift_Ins_p.GK544fs NM_130806.3 NP_570718.1 Q8WXD0 RXFP2_HUMAN relaxin/insulin-like family peptide receptor 2 568 integral to membrane|plasma membrane cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1) 33 Lung SC(185;0.0262) all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535) ACTTTTATGGGAAAAATGGAGT 0.342 7 21 --- --- --- --- ARHGEF40 55701 broad.mit.edu 37 14 21553011 21553013 + In_Frame_Del DEL CTC CTC - TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr14:21553011_21553013delCTC ENST00000298694.4 + 18 4016_4018 c.3889_3891delCTC c.(3889-3891)del p.L1299del ARHGEF40_ENST00000298693.3_In_Frame_Del_p.L1299del Q8TER5 ARH40_HUMAN Rho guanine nucleotide exchange factor (GEF) 40 1299 PH. regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2) 9 CTTCGAGCATCTCCTCCTGTTCA 0.527 16 159 --- --- --- --- INSM2 84684 broad.mit.edu 37 14 36004969 36004969 + Frame_Shift_Del DEL C C - TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr14:36004969delC ENST00000307169.3 + 1 1722 c.1511delC c.(1510-1512)ggfs p.A504fs NM_032594.3 NP_115983.3 Q96T92 INSM2_HUMAN insulinoma-associated 2 504 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1) 10 Breast(36;0.122)|Hepatocellular(127;0.158) LUAD - Lung adenocarcinoma(9;2.16e-07)|Lung(238;2.63e-07)|Epithelial(34;0.00145)|all cancers(34;0.00452) GBM - Glioblastoma multiforme(112;0.0223) CCCGCTCTGGCGGGGGCTCCT 0.622 27 54 --- --- --- --- C14orf28 122525 broad.mit.edu 37 14 45369723 45369724 + Frame_Shift_Ins INS - - G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr14:45369723_45369724insG ENST00000325192.3 + 2 360_361 c.85_86insG c.(85-87)gggfs p.G29fs RP11-857B24.5_ENST00000555157.1_RNA|C14orf28_ENST00000557112.1_Frame_Shift_Ins_p.G29fs NM_001017923.1 NP_001017923.1 Q4W4Y0 CN028_HUMAN chromosome 14 open reading frame 28 29 endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(2) 11 TGTTCTTCCTTGGGGGGGTGTT 0.376 10 97 --- --- --- --- PLEKHH1 57475 broad.mit.edu 37 14 68053849 68053850 + Frame_Shift_Ins INS - - C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr14:68053849_68053850insC ENST00000329153.5 + 29 4124_4125 c.3992_3993insC c.(3991-3993)accfs p.T1331fs PLEKHH1_ENST00000417684.2_Frame_Shift_Ins_p.DP272fs NM_020715.2 NP_065766.1 Q9ULM0 PKHH1_HUMAN pleckstrin homology domain containing, family H (with MyTH4 domain) member 1 1331 FERM. cytoskeleton binding endometrium(2)|kidney(4)|lung(12)|urinary_tract(1) 19 all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011) ACAACTGTGAACCCCCCCACCA 0.515 7 51 --- --- --- --- ADAM20 8748 broad.mit.edu 37 14 70991123 70991123 + Frame_Shift_Del DEL C C - TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr14:70991123delC ENST00000256389.3 - 2 746 c.502delG c.(502-504)tcfs p.V168fs RP11-486O13.4_ENST00000556646.1_lincRNA NM_003814.4 NP_003805.3 O43506 ADA20_HUMAN ADAM metallopeptidase domain 20 118 proteolysis|single fertilization integral to membrane metalloendopeptidase activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2) 27 KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188) all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344) GACTCAGGGACCCCCTCCACA 0.493 16 194 --- --- --- --- MED6 10001 broad.mit.edu 37 14 71051554 71051555 + Frame_Shift_Ins INS - - G rs145634622 byFrequency TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr14:71051554_71051555insG ENST00000256379.5 - 8 745_746 c.716_717insC c.(715-717)cgafs p.R239fs MED6_ENST00000554963.1_Frame_Shift_Ins_p.R239fs|MED6_ENST00000430055.2_Frame_Shift_Ins_p.R246fs|MED6_ENST00000440435.2_3'UTR NM_005466.2 NP_005457.2 O75586 MED6_HUMAN mediator complex subunit 6 239 positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex transcription coactivator activity p.E240fs*1(1) large_intestine(2)|lung(2)|skin(1) 5 all cancers(60;0.00315)|BRCA - Breast invasive adenocarcinoma(234;0.00685)|OV - Ovarian serous cystadenocarcinoma(108;0.0352) TCCGTTTTTCAGGGGGGCCTTT 0.450 29 290 --- --- --- --- SEL1L 6400 broad.mit.edu 37 14 81993164 81993164 + Frame_Shift_Del DEL C C - TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr14:81993164delC ENST00000336735.4 - 3 369 c.253delG c.(253-255)aafs p.E85fs SEL1L_ENST00000555824.1_Frame_Shift_Del_p.E85fs NM_005065.5 NP_005056.3 Q9UBV2 SE1L1_HUMAN sel-1 suppressor of lin-12-like (C. elegans) 85 Interaction with ERLEC1, OS9 and SYVN1. Notch signaling pathway endoplasmic reticulum membrane|integral to membrane protein binding p.E85K(1) breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3) 28 BRCA - Breast invasive adenocarcinoma(234;0.0299) GTGACACTTTCCCCCTCTTGG 0.418 7 244 --- --- --- --- MGA 23269 broad.mit.edu 37 15 42021442 42021442 + Frame_Shift_Del DEL A A - TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr15:42021442delA ENST00000219905.7 + 11 3919 c.3738delA c.(3736-3738)cgfs p.R1246fs MGA_ENST00000570161.1_Frame_Shift_Del_p.R1246fs|MGA_ENST00000566586.1_Frame_Shift_Del_p.R1246fs|MGA_ENST00000545763.1_Frame_Shift_Del_p.R1246fs|MGA_ENST00000389936.4_Frame_Shift_Del_p.R1246fs NM_001164273.1 NP_001157745.1 Q8IWI9 MGAP_HUMAN MGA, MAX dimerization protein 1246 MLL1 complex DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238) OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235) TATATGAGCGAAAAAAAGAGG 0.413 13 13 --- --- --- --- SPATA8 145946 broad.mit.edu 37 15 97326889 97326890 + Frame_Shift_Ins INS - - C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr15:97326889_97326890insC ENST00000328504.3 + 1 271_272 c.4_5insC c.(4-6)cccfs p.P2fs SPATA8_ENST00000558553.1_Intron NM_173499.3 NP_775770.1 Q6RVD6 SPAT8_HUMAN spermatogenesis associated 8 2 large_intestine(4)|lung(8)|ovary(1)|skin(3) 16 Melanoma(26;0.0142)|Lung NSC(78;0.041)|all_lung(78;0.0468) OV - Ovarian serous cystadenocarcinoma(32;0.0718) ATGAGGAATGGCCCCGGCTGGG 0.569 11 75 --- --- --- --- SRL 6345 broad.mit.edu 37 16 4242173 4242173 + Frame_Shift_Del DEL T T - TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr16:4242173delT ENST00000399609.3 - 6 1415 c.1403delA c.(1402-1404)atfs p.N468fs SRL_ENST00000537996.1_Frame_Shift_Del_p.N426fs NM_001098814.1 NP_001092284.1 Q86TD4 SRCA_HUMAN sarcalumenin 927 Acidic domain, probably binds calcium (By similarity). sarcoplasmic reticulum lumen GTP binding|GTPase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(3) 21 CCTGTAGCGATTTTTTGGTGT 0.527 13 184 --- --- --- --- NMRAL1 57407 broad.mit.edu 37 16 4516201 4516202 + Frame_Shift_Del DEL GA GA - TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr16:4516201_4516202delGA ENST00000574733.1 - 4 1210_1211 c.481_482delTC c.(481-483)cfs p.S161fs NMRAL1_ENST00000572391.1_5'UTR|NMRAL1_ENST00000574425.1_Frame_Shift_Del_p.S161fs|NMRAL1_ENST00000404295.3_Frame_Shift_Del_p.S161fs|NMRAL1_ENST00000283429.6_Frame_Shift_Del_p.S161fs Q9HBL8 NMRL1_HUMAN NmrA-like family domain containing 1 161 Interaction with ASS1. nucleus|perinuclear region of cytoplasm binding breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|prostate(2)|stomach(1) 15 CAAGAAGTGGGAGAGGAGGTTC 0.569 22 89 --- --- --- --- UBN1 29855 broad.mit.edu 37 16 4924785 4924785 + Frame_Shift_Del DEL G G - TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr16:4924785delG ENST00000396658.4 + 14 3077 c.2374delG c.(2374-2376)ggfs p.G792fs UBN1_ENST00000545171.1_Frame_Shift_Del_p.G792fs|UBN1_ENST00000262376.6_Frame_Shift_Del_p.G792fs|UBN1_ENST00000590769.1_Frame_Shift_Del_p.G792fs NM_016936.3 NP_058632.2 Q9NPG3 UBN1_HUMAN ubinuclein 1 792 chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter PML body|tight junction DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 38 GACGTCTCACGGGCCCCAAGT 0.572 16 217 --- --- --- --- DCTN5 84516 broad.mit.edu 37 16 23652886 23652888 + In_Frame_Del DEL ACA ACA - TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr16:23652886_23652888delACA ENST00000300087.2 + 1 174_176 c.23_25delACA c.(22-27)tac>t p.YN8del DCTN5_ENST00000568272.1_In_Frame_Del_p.YN8del|DCTN5_ENST00000563998.1_In_Frame_Del_p.YN8del|DCTN5_ENST00000568589.1_In_Frame_Del_p.YN8del NM_001199743.1|NM_032486.3 NP_001186672.1|NP_115875.1 Q9BTE1 DCTN5_HUMAN dynactin 5 (p25) 8 centrosome transferase activity endometrium(2)|lung(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 10 GBM - Glioblastoma multiforme(48;0.0156) GAGCTGCTCTACAACAAGTCTGA 0.596 12 77 --- --- --- --- ERN2 10595 broad.mit.edu 37 16 23711986 23711986 + Frame_Shift_Del DEL G G - TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr16:23711986delG ENST00000256797.4 - 13 1711 c.1543delC c.(1543-1545)tgfs p.L515fs ERN2_ENST00000457008.2_Frame_Shift_Del_p.L415fs NM_033266.3 NP_150296.3 Q76MJ5 ERN2_HUMAN endoplasmic reticulum to nucleus signaling 2 467 apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent endoplasmic reticulum membrane|integral to membrane ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity large_intestine(2)|lung(2)|ovary(2) 6 GBM - Glioblastoma multiforme(48;0.0156) GCAGGTGCCAGGGGGGTCTCC 0.627 24 130 --- --- --- --- PRSS36 146547 broad.mit.edu 37 16 31151663 31151664 + Frame_Shift_Ins INS - - G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr16:31151663_31151664insG ENST00000268281.4 - 14 2298_2299 c.2240_2241insC c.(2239-2241)cggfs p.R747fs PRSS36_ENST00000569305.1_Frame_Shift_Ins_p.R742fs|PRSS36_ENST00000418068.2_Intron NM_001258290.1|NM_173502.4 NP_001245219.1|NP_775773.2 Q5K4E3 POLS2_HUMAN protease, serine, 36 747 Peptidase S1 3. proteolysis cytoplasm|proteinaceous extracellular matrix serine-type endopeptidase activity kidney(2)|large_intestine(4)|lung(8)|ovary(3) 17 AGAGGGTTCCAGGGGGCAGGAT 0.589 21 93 --- --- --- --- CETP 1071 broad.mit.edu 37 16 57005247 57005249 + In_Frame_Del DEL CAA CAA - TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr16:57005247_57005249delCAA ENST00000200676.3 + 7 742_744 c.612_614delCAA c.(610-615)atc>at p.IN204del CETP_ENST00000566128.1_In_Frame_Del_p.IN139del|CETP_ENST00000569082.1_3'UTR|CETP_ENST00000379780.2_In_Frame_Del_p.IN204del NM_000078.2 NP_000069.2 P11597 CETP_HUMAN cholesteryl ester transfer protein, plasma 204 cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|lipoprotein metabolic process|low-density lipoprotein particle remodeling|phosphatidylcholine metabolic process|phospholipid homeostasis|receptor-mediated endocytosis|regulation of cholesterol efflux|triglyceride homeostasis|triglyceride metabolic process|very-low-density lipoprotein particle remodeling high-density lipoprotein particle|vesicle cholesterol binding|cholesterol transporter activity|phosphatidylcholine binding|phospholipid transporter activity|triglyceride binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3) 23 GCAAAGAGATCAACGTCATCTCT 0.562 16 93 --- --- --- --- TUBB3 10381 broad.mit.edu 37 16 90002206 90002207 + Frame_Shift_Ins INS - - A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr16:90002206_90002207insA ENST00000304984.5 + 3 3426_3427 c.1131_1132insA c.(1129-1134)ccagtgfs p.V378fs TUBB3_ENST00000556922.1_Frame_Shift_Ins_p.V797fs|TUBB3_ENST00000555576.1_Intron|TUBB3_ENST00000554444.1_Frame_Shift_Ins_p.V378fs|TUBB3_ENST00000315491.7_Frame_Shift_Ins_p.V450fs Q13509 TBB3_HUMAN tubulin, beta 3 class III 450 'de novo' posttranslational protein folding|axon guidance|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 17 all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.0273) CCCAGGGCCCCAAGTGAAGCTG 0.658 10 10 --- --- --- --- SGSM2 9905 broad.mit.edu 37 17 2278813 2278813 + Frame_Shift_Del DEL C C - TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr17:2278813delC ENST00000268989.3 + 18 2305 c.2128delC c.(2128-2130)ccfs p.P711fs SGSM2_ENST00000574563.1_Frame_Shift_Del_p.P666fs|RP1-59D14.5_ENST00000574290.1_RNA|SGSM2_ENST00000426855.2_Frame_Shift_Del_p.P666fs NM_014853.2 NP_055668.2 O43147 SGSM2_HUMAN small G protein signaling modulator 2 666 Rab-GAP TBC. intracellular Rab GTPase activator activity biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115) TGATCTGGAACCCCCGGAGCC 0.652 11 41 --- --- --- --- ELP5 23587 broad.mit.edu 37 17 7162192 7162195 + Frame_Shift_Del DEL AGAG AGAG - TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr17:7162192_7162195delAGAG ENST00000396628.2 + 7 1000_1003 c.783_786delAGAG c.(781-786)aafs p.KE261fs ELP5_ENST00000396627.2_Frame_Shift_Del_p.KE261fs|RP1-4G17.5_ENST00000577138.1_Intron|ELP5_ENST00000354429.2_Frame_Shift_Del_p.KE261fs|ELP5_ENST00000356683.2_3'UTR|ELP5_ENST00000574993.1_3'UTR NM_203414.1 NP_981959.1 elongator acetyltransferase complex subunit 5 p.E262Q(1) TGTCCAAGAAAGAGAGAGAAGCCA 0.515 15 57 --- --- --- --- EIF5A 1984 broad.mit.edu 37 17 7214920 7214921 + Frame_Shift_Del DEL AG AG - TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr17:7214920_7214921delAG ENST00000336458.8 + 5 827_828 c.426_427delAG c.(424-429)acagfs p.TE142fs EIF5A_ENST00000571955.1_Frame_Shift_Del_p.TE142fs|EIF5A_ENST00000572815.1_Frame_Shift_Del_p.TE174fs|EIF5A_ENST00000336452.7_Frame_Shift_Del_p.TE172fs|EIF5A_ENST00000573542.1_Frame_Shift_Del_p.TE142fs|EIF5A_ENST00000576930.1_Frame_Shift_Del_p.TE142fs|GPS2_ENST00000391950.3_Intron|EIF5A_ENST00000419711.2_Frame_Shift_Del_p.TE142fs|EIF5A_ENST00000416016.2_Frame_Shift_Del_p.TE142fs NM_001970.4 NP_001961.1 P63241 IF5A1_HUMAN eukaryotic translation initiation factor 5A 142 induction of apoptosis|mRNA export from nucleus|peptidyl-lysine modification to hypusine|positive regulation of cell proliferation|positive regulation of translational elongation|positive regulation of translational termination|post-translational protein modification|protein export from nucleus|translational frameshifting|transmembrane transport annulate lamellae|cytosol|endoplasmic reticulum membrane|nuclear pore protein N-terminus binding|ribosome binding|translation elongation factor activity|U6 snRNA binding endometrium(2)|kidney(1)|large_intestine(2)|urinary_tract(1) 6 CTGCCATGACAGAGGAGGCAGC 0.510 14 64 --- --- --- --- MYO15A 51168 broad.mit.edu 37 17 18023293 18023293 + Frame_Shift_Del DEL C C - TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr17:18023293delC ENST00000205890.5 + 2 1517 c.1179delC c.(1177-1179)tafs p.Y393fs NM_016239.3 NP_057323.3 Q9UKN7 MYO15_HUMAN myosin XVA 393 Myosin head-like. sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 99 all_neural(463;0.228) AGGCCATCTACCCCCCCGAGG 0.622 9 86 --- --- --- --- SUPT6H 6830 broad.mit.edu 37 17 27020724 27020729 + In_Frame_Del DEL ACTTTG ACTTTG - TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr17:27020724_27020729delACTTTG ENST00000314616.6 + 28 3927_3932 c.3644_3649delACTTTG c.(3643-3651)cac>c p.HFD1215del SUPT6H_ENST00000347486.4_In_Frame_Del_p.HFD1215del NM_003170.3 NP_003161.2 Q7KZ85 SPT6H_HUMAN suppressor of Ty 6 homolog (S. cerevisiae) 1215 S1 motif. chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter nucleus hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 Lung NSC(42;0.00431) GTGTGGAACCACTTTGACAGCGGTTC 0.495 28 90 --- --- --- --- KRT24 192666 broad.mit.edu 37 17 38859835 38859836 + Frame_Shift_Ins INS - - C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr17:38859835_38859836insC ENST00000264651.2 - 1 166_167 c.110_111insG c.(109-111)gagfs p.E37fs NM_019016.2 NP_061889.2 Q2M2I5 K1C24_HUMAN keratin 24 37 Gly-rich.|Head. cytoplasm|intermediate filament structural molecule activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Breast(137;0.00526) GGGCCGAGCTGCCCCCCAGACC 0.658 17 131 --- --- --- --- WNK4 65266 broad.mit.edu 37 17 40939870 40939870 + Frame_Shift_Del DEL G G - TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr17:40939870delG ENST00000246914.5 + 8 1837 c.1816delG c.(1816-1818)ggfs p.G607fs WNK4_ENST00000587705.1_Intron NM_032387.4 NP_115763.2 Q96J92 WNK4_HUMAN WNK lysine deficient protein kinase 4 607 intracellular protein kinase cascade tight junction ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1) 35 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.0749) TCAGCCCCCTGGGGGGGTGCC 0.637 19 91 --- --- --- --- HDAC5 10014 broad.mit.edu 37 17 42157801 42157801 + Frame_Shift_Del DEL G G - TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr17:42157801delG ENST00000225983.6 - 22 3119 c.2796delC c.(2794-2796)ccfs p.P932fs HDAC5_ENST00000586802.1_Frame_Shift_Del_p.P931fs|HDAC5_ENST00000336057.5_Frame_Shift_Del_p.P846fs|HDAC5_ENST00000393622.2_Frame_Shift_Del_p.P931fs Q9UQL6 HDAC5_HUMAN histone deacetylase 5 931 Histone deacetylase. B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent cytoplasm|histone deacetylase complex histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1) 21 Breast(137;0.00637)|Prostate(33;0.0313) BRCA - Breast invasive adenocarcinoma(366;0.118) CGTCTCCAATGGGGGGGTCCA 0.607 8 95 --- --- --- --- XYLT2 64132 broad.mit.edu 37 17 48433967 48433967 + Frame_Shift_Del DEL C C - TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr17:48433967delC ENST00000017003.2 + 8 1627 c.1578delC c.(1576-1578)tafs p.Y526fs XYLT2_ENST00000507602.1_Frame_Shift_Del_p.Y526fs NM_022167.2 NP_071450.2 Q9H1B5 XYLT2_HUMAN xylosyltransferase II 526 glycosaminoglycan biosynthetic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane acetylglucosaminyltransferase activity|protein xylosyltransferase activity p.G529fs*17(1) endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1) 12 Breast(11;7.18e-19) ATGGCAGCTACCCCCCCGGCA 0.602 14 109 --- --- --- --- SDK2 54549 broad.mit.edu 37 17 71394282 71394282 + Frame_Shift_Del DEL G G - TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr17:71394282delG ENST00000392650.3 - 24 3246 c.3246delC c.(3244-3246)ccfs p.P1082fs SDK2_ENST00000388726.3_Frame_Shift_Del_p.P1082fs NM_001144952.1 NP_001138424.1 Q58EX2 SDK2_HUMAN sidekick cell adhesion molecule 2 1082 Fibronectin type-III 5. cell adhesion integral to membrane breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 86 AAGGCTGACTGGGGGGGCTGG 0.617 21 58 --- --- --- --- ZACN 353174 broad.mit.edu 37 17 74077707 74077707 + Frame_Shift_Del DEL G G - rs146722649 TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr17:74077707delG ENST00000334586.5 + 7 834 c.751delG c.(751-753)ggfs p.G252fs EXOC7_ENST00000589210.1_3'UTR|EXOC7_ENST00000607838.1_3'UTR|EXOC7_ENST00000591724.1_Intron|EXOC7_ENST00000332065.5_3'UTR NM_180990.3 NP_851321.2 Q401N2 ZACN_HUMAN zinc activated ligand-gated ion channel 252 Leu-rich. response to zinc ion integral to membrane|membrane fraction|plasma membrane|postsynaptic membrane extracellular ligand-gated ion channel activity|receptor activity breast(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 11 TGACGTGTGCGGGGGGTTGCT 0.612 23 222 --- --- --- --- SRSF2 6427 broad.mit.edu 37 17 74732955 74732956 + Frame_Shift_Ins INS - - G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr17:74732955_74732956insG ENST00000392485.2 - 1 459_460 c.287_288insC c.(286-288)cgafs p.R96fs MFSD11_ENST00000591864.1_5'UTR|SRSF2_ENST00000359995.5_Frame_Shift_Ins_p.R96fs|SRSF2_ENST00000508921.3_Frame_Shift_Ins_p.R96fs|MFSD11_ENST00000588460.1_5'UTR|MFSD11_ENST00000586622.1_5'UTR|RP11-318A15.7_ENST00000587459.1_Intron NM_003016.4 NP_003007.2 Q01130 SRSF2_HUMAN serine/arginine-rich splicing factor 2 96 mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription nuclear speck nucleotide binding|protein binding|RNA binding|transcription corepressor activity p.P95_R102del(21)|p.P95_D97del(2) haematopoietic_and_lymphoid_tissue(320)|kidney(2)|large_intestine(1)|lung(4)|prostate(2) 329 GGTGTGAGTCCGGGGGGCGGCC 0.743 Mis """MDS, CLL""" 14 89 --- --- --- --- GAA 2548 broad.mit.edu 37 17 78090813 78090814 + Frame_Shift_Ins INS - - G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr17:78090813_78090814insG ENST00000302262.3 + 16 2455_2456 c.2236_2237insG c.(2236-2238)gggfs p.G746fs GAA_ENST00000390015.3_Frame_Shift_Ins_p.G746fs NM_000152.3 NP_000143.2 P10253 LYAG_HUMAN glucosidase, alpha; acid 746 W -> C (in dbSNP:rs1800312). cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis lysosomal membrane carbohydrate binding|maltose alpha-glucosidase activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 21 all_neural(118;0.117) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139) Acarbose(DB00284) CCAGCTCCTGTGGGGGGAGGCC 0.634 12 90 --- --- --- --- SLC26A11 284129 broad.mit.edu 37 17 78219988 78219989 + Frame_Shift_Ins INS - - G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr17:78219988_78219989insG ENST00000361193.3 + 12 1413_1414 c.1133_1134insG c.(1132-1134)cgcfs p.R378fs SLC26A11_ENST00000546047.2_Frame_Shift_Ins_p.R378fs|SLC26A11_ENST00000572725.1_Frame_Shift_Ins_p.R378fs|SLC26A11_ENST00000411502.3_Frame_Shift_Ins_p.R378fs NM_001166347.1|NM_173626.3 NP_001159819.1|NP_775897.3 Q86WA9 S2611_HUMAN solute carrier family 26 (anion exchanger), member 11 378 endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|plasma membrane anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 28 all_neural(118;0.0538) OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908) GTGTGCACCCCGGCGGGGGGCC 0.663 45 199 --- --- --- --- MYO5B 4645 broad.mit.edu 37 18 47421356 47421357 + Frame_Shift_Ins INS - - T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr18:47421356_47421357insT ENST00000285039.7 - 22 3298_3299 c.2999_3000insA c.(2998-3000)aatfs p.N1000fs MYO5B_ENST00000324581.6_Frame_Shift_Ins_p.N141fs NM_001080467.2 NP_001073936.1 Q9ULV0 MYO5B_HUMAN myosin VB 1000 protein transport myosin complex actin binding|ATP binding|calmodulin binding|motor activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4) 87 READ - Rectum adenocarcinoma(32;0.103) CCTCCAAGATCTTGCGCTCCGA 0.644 25 79 --- --- --- --- POLI 11201 broad.mit.edu 37 18 51795958 51795960 + In_Frame_Del DEL CGA CGA - rs140689079 TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr18:51795958_51795960delCGA ENST00000579534.1 + 1 185_187 c.42_44delCGA c.(40-45)ggc>gg p.GD14del POLI_ENST00000406285.3_In_Frame_Del_p.GD14del|POLI_ENST00000579434.1_5'UTR NM_007195.2 NP_009126.2 Q9UNA4 POLI_HUMAN polymerase (DNA directed) iota 14 DNA repair|DNA replication nucleoplasm damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding|protein binding p.D17delD(1) breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1) 26 Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197) AAGGCGGCGGCGACGACGACGAG 0.729 DNA polymerases (catalytic subunits) 6 2 --- --- --- --- DSEL 92126 broad.mit.edu 37 18 65178971 65178971 + Frame_Shift_Del DEL T T - TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr18:65178971delT ENST00000310045.7 - 2 4378 c.2905delA c.(2905-2907)gafs p.R969fs CTD-2541J13.2_ENST00000583493.1_RNA NM_032160.2 NP_115536.1 Q8IZU8 DSEL_HUMAN dermatan sulfate epimerase-like 959 integral to membrane isomerase activity|sulfotransferase activity NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 74 Esophageal squamous(42;0.129) TTAAATTTTCTTTTTTTGTCC 0.373 13 68 --- --- --- --- PCSK4 54760 broad.mit.edu 37 19 1482094 1482094 + Frame_Shift_Del DEL G G - TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:1482094delG ENST00000300954.5 - 15 1993 c.1932delC c.(1930-1932)ccfs p.P644fs NM_017573.3 NP_060043.2 Q6UW60 PCSK4_HUMAN proprotein convertase subtilisin/kexin type 4 644 proteolysis integral to membrane serine-type endopeptidase activity cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 15 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CCCTCAGCGCGGGCGCCGCCG 0.706 5 6 --- --- --- --- NCLN 56926 broad.mit.edu 37 19 3198891 3198891 + Frame_Shift_Del DEL C C - TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:3198891delC ENST00000246117.4 + 5 1123 c.692delC c.(691-693)gcfs p.A231fs NCLN_ENST00000590671.1_Frame_Shift_Del_p.A157fs NM_020170.3 NP_064555.2 Q969V3 NCLN_HUMAN nicalin 231 proteolysis|regulation of signal transduction endoplasmic reticulum membrane|integral to membrane|nucleus peptidase activity|protein binding kidney(1)|lung(3)|skin(1) 5 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.83e-113)|Epithelial(107;1.65e-111)|all cancers(105;1.53e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00139)|STAD - Stomach adenocarcinoma(1328;0.18) TTTGGAGTGGCCCCCGTACGT 0.652 24 60 --- --- --- --- HDGFRP2 84717 broad.mit.edu 37 19 4491814 4491814 + Frame_Shift_Del DEL G G - TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:4491814delG ENST00000301284.4 + 6 724 c.660delG c.(658-660)ctfs p.L220fs HDGFRP2_ENST00000586684.1_Frame_Shift_Del_p.L220fs NM_001001520.1|NM_032631.2 NP_001001520.1|NP_116020.1 Q7Z4V5 HDGR2_HUMAN 220 Ser-rich. transcription, DNA-dependent nucleus DNA binding|protein binding GGGGCCCTCTGGGGGGACGGA 0.642 22 156 --- --- --- --- ZNF491 126069 broad.mit.edu 37 19 11917606 11917606 + Frame_Shift_Del DEL T T - TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:11917606delT ENST00000323169.5 + 3 1169 c.838delT c.(838-840)ttfs p.F280fs ZNF491_ENST00000492230.1_Intron NM_152356.3 NP_689569.2 Q8N8L2 ZN491_HUMAN zinc finger protein 491 280 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(14)|lung(6)|ovary(2)|skin(1) 26 TGGGAAAGCCTTTTACTCTCC 0.423 7 53 --- --- --- --- ZNF607 84775 broad.mit.edu 37 19 38189415 38189415 + Frame_Shift_Del DEL C C - TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:38189415delC ENST00000355202.4 - 5 2212 c.1617delG c.(1615-1617)ggfs p.G539fs ZNF607_ENST00000395835.3_Frame_Shift_Del_p.G538fs|CTD-2528L19.4_ENST00000586606.2_Intron NM_032689.4 NP_116078.4 Q96SK3 ZN607_HUMAN zinc finger protein 607 539 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1) 27 UCEC - Uterine corpus endometrioid carcinoma (49;0.0775) TAAAAGACTTCCCGCATTTGT 0.418 22 70 --- --- --- --- MEGF8 1954 broad.mit.edu 37 19 42838298 42838298 + Frame_Shift_Del DEL G G - TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:42838298delG ENST00000334370.4 + 3 1126 c.491delG c.(490-492)tgfs p.W164fs MEGF8_ENST00000251268.6_Frame_Shift_Del_p.W164fs NM_001410.2 NP_001401.2 Q7Z7M0 MEGF8_HUMAN multiple EGF-like-domains 8 164 EGF-like 1. integral to membrane calcium ion binding|structural molecule activity breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 Prostate(69;0.00682) GAGCCGGGCTGGGGGGGTCCT 0.701 12 59 --- --- --- --- ZNF576 79177 broad.mit.edu 37 19 44102995 44102995 + Frame_Shift_Del DEL C C - TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:44102995delC ENST00000336564.4 + 3 252 c.98delC c.(97-99)gcfs p.A33fs ZNF576_ENST00000525771.1_Frame_Shift_Del_p.A33fs|ZNF576_ENST00000533118.1_Frame_Shift_Del_p.A33fs|SRRM5_ENST00000526798.1_Intron|ZNF576_ENST00000528387.1_Frame_Shift_Del_p.A33fs|ZNF576_ENST00000391965.2_Frame_Shift_Del_p.A33fs|SRRM5_ENST00000607544.1_Intron|ZNF576_ENST00000529930.1_Frame_Shift_Del_p.A33fs NM_001145347.1 NP_001138819.1 Q9H609 ZN576_HUMAN zinc finger protein 576 33 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|prostate(1) 2 Prostate(69;0.0199) CACCTGGGGGCCCCGAAGTGC 0.602 36 107 --- --- --- --- KCNN4 3783 broad.mit.edu 37 19 44284948 44284950 + In_Frame_Del DEL CTC CTC - TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:44284948_44284950delCTC ENST00000262888.3 - 1 459_461 c.64_66delGAG c.(64-66)del p.E22del NM_002250.2 NP_002241.1 O15554 KCNN4_HUMAN potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4 22 defense response voltage-gated potassium channel complex calcium-activated potassium channel activity|calmodulin binding biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 15 Prostate(69;0.0352) Clotrimazole(DB00257)|Halothane(DB01159)|Quinine(DB00468) CCAGAGACTTCTCCTGCTCCAGC 0.660 48 148 --- --- --- --- CEACAM20 125931 broad.mit.edu 37 19 45015107 45015107 + RNA DEL T T - TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:45015107delT ENST00000454753.1 - 0 1997 Q6UY09 CEA20_HUMAN carcinoembryonic antigen-related cell adhesion molecule 20 integral to membrane central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1) 15 Prostate(69;0.0352) TGACTCCATGTTTTTTGGCAC 0.483 7 46 --- --- --- --- RELB 5971 broad.mit.edu 37 19 45540824 45540824 + Frame_Shift_Del DEL C C - TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:45540824delC ENST00000221452.8 + 12 1666 c.1516delC c.(1516-1518)ccfs p.P507fs RELB_ENST00000540120.1_Frame_Shift_Del_p.P507fs|RELB_ENST00000505236.1_Frame_Shift_Del_p.P504fs NM_006509.3 NP_006500.2 Q01201 RELB_HUMAN v-rel avian reticuloendotheliosis viral oncogene homolog B 507 nucleus protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(3)|skin(1) 12 Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00986) GGACCTGCTGCCCCCGGCACC 0.697 21 45 --- --- --- --- FUZ 80199 broad.mit.edu 37 19 50314897 50314899 + In_Frame_Del DEL CTT CTT - TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:50314897_50314899delCTT ENST00000313777.4 - 4 539_541 c.376_378delAAG c.(376-378)del p.K126del FUZ_ENST00000528094.1_In_Frame_Del_p.K90del|FUZ_ENST00000445575.2_In_Frame_Del_p.K126del|FUZ_ENST00000534008.1_5'UTR|FUZ_ENST00000533418.1_In_Frame_Del_p.K76del|FUZ_ENST00000526575.1_3'UTR NM_025129.4 NP_079405.2 Q9BT04 FUZZY_HUMAN fuzzy planar cell polarity protein 126 cilium assembly|embryonic body morphogenesis|embryonic skeletal system morphogenesis|establishment of planar polarity|hair follicle development|neural tube closure|protein transport|regulation of smoothened signaling pathway cytoplasm|cytoskeleton endometrium(1)|lung(3) 4 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00793)|GBM - Glioblastoma multiforme(134;0.0116) CCCTCAAGTCCTTCTTCAGTCTC 0.547 9 636 --- --- --- --- EPN1 29924 broad.mit.edu 37 19 56206189 56206189 + Frame_Shift_Del DEL C C - TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:56206189delC ENST00000411543.2 + 10 2167 c.1620delC c.(1618-1620)agfs p.S540fs EPN1_ENST00000085079.7_Frame_Shift_Del_p.S428fs|EPN1_ENST00000270460.6_Frame_Shift_Del_p.S454fs NM_001130071.1 NP_001123543.1 Q9Y6I3 EPN1_HUMAN epsin 1 454 3 X 3 AA repeats of N-P-F.|Ala/Gly/Pro-rich. endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway coated pit|cytoplasm|nucleus|plasma membrane lipid binding endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|skin(1) 17 Colorectal(82;0.00244)|Ovarian(87;0.133) GBM - Glioblastoma multiforme(193;0.112) CTGTGGGCAGCCCCCCACCTG 0.687 8 16 --- --- --- --- ZNF274 10782 broad.mit.edu 37 19 58723888 58723888 + Frame_Shift_Del DEL A A - TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr19:58723888delA ENST00000326804.4 + 9 1797 c.1338delA c.(1336-1338)agfs p.R446fs ZNF274_ENST00000424679.2_Frame_Shift_Del_p.R341fs|ZNF274_ENST00000345813.3_Frame_Shift_Del_p.R414fs|ZNF274_ENST00000597818.1_3'UTR NM_133502.1 NP_598009.1 Q96GC6 ZN274_HUMAN zinc finger protein 274 447 viral reproduction centrosome|nucleolus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1) 21 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215) TTCCTCCTAGAAAACGATTGC 0.423 12 113 --- --- --- --- CPXM1 56265 broad.mit.edu 37 20 2779390 2779391 + Frame_Shift_Ins INS - - G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr20:2779390_2779391insG ENST00000380605.2 - 2 385_386 c.321_322insC c.(319-324)ccctgafs p.*108fs NM_001184699.1|NM_019609.4 NP_001171628.1|NP_062555.1 Q96SM3 CPXM1_HUMAN carboxypeptidase X (M14 family), member 1 108 cell adhesion|proteolysis metallocarboxypeptidase activity|zinc ion binding endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 43 TGTTTCTCAGCGGGGTCGAGGG 0.609 50 183 --- --- --- --- RRBP1 6238 broad.mit.edu 37 20 17602515 17602516 + Frame_Shift_Del DEL AG AG - TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr20:17602515_17602516delAG ENST00000377813.1 - 14 3527_3528 c.3224_3225delCT c.(3223-3225)tfs p.S1075fs RRBP1_ENST00000455029.2_Frame_Shift_Del_p.S416fs|RRBP1_ENST00000377807.2_Frame_Shift_Del_p.S642fs|RRBP1_ENST00000360807.4_Frame_Shift_Del_p.S642fs|RRBP1_ENST00000246043.4_Frame_Shift_Del_p.S1075fs Q9P2E9 RRBP1_HUMAN ribosome binding protein 1 1075 protein transport|translation|transmembrane transport integral to endoplasmic reticulum membrane|ribosome receptor activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6) 28 GTGCCAAGACAGAGAGTTCTGG 0.594 15 107 --- --- --- --- XKR7 343702 broad.mit.edu 37 20 30584862 30584862 + Frame_Shift_Del DEL C C - TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr20:30584862delC ENST00000217299.3 + 3 1516 c.1342delC c.(1342-1344)ccfs p.P448fs NM_001011718.1 NP_001011718.1 Q5GH72 XKR7_HUMAN XK, Kell blood group complex subunit-related family, member 7 448 integral to membrane breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 34 Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347) CATGCTGGGTCCCCAGGCACC 0.612 44 81 --- --- --- --- ZSWIM1 90204 broad.mit.edu 37 20 44511649 44511650 + Frame_Shift_Del DEL GA GA - TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr20:44511649_44511650delGA ENST00000372523.1 + 2 513_514 c.418_419delGA c.(418-420)gfs p.E140fs ZSWIM1_ENST00000372520.1_Frame_Shift_Del_p.E140fs NM_080603.4 NP_542170.3 Q9BR11 ZSWM1_HUMAN zinc finger, SWIM-type containing 1 140 zinc ion binding breast(1)|endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|skin(1) 13 Myeloproliferative disorder(115;0.028) TCCAGCATGGGAGAGAGTCTGT 0.515 19 174 --- --- --- --- SLC37A1 54020 broad.mit.edu 37 21 43954890 43954890 + Frame_Shift_Del DEL C C - rs111313584 TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr21:43954890delC ENST00000352133.2 + 4 1203 c.221delC c.(220-222)gcfs p.A74fs SLC37A1_ENST00000398341.3_Frame_Shift_Del_p.A74fs P57057 GLPT_HUMAN solute carrier family 37 (glucose-6-phosphate transporter), member 1 74 carbohydrate transport|transmembrane transport integral to membrane breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(3) 15 GGGTCCGCTGCCCCCCACCAG 0.607 7 56 --- --- --- --- MTMR3 8897 broad.mit.edu 37 22 30415743 30415745 + In_Frame_Del DEL GAG GAG - TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr22:30415743_30415745delGAG ENST00000333027.3 + 17 2423_2425 c.2095_2097delGAG c.(2095-2097)del p.E700del MTMR3_ENST00000351488.3_In_Frame_Del_p.E700del|MTMR3_ENST00000323630.5_In_Frame_Del_p.E564del|MTMR3_ENST00000406629.1_In_Frame_Del_p.E700del|MTMR3_ENST00000401950.2_In_Frame_Del_p.E700del|CTA-85E5.10_ENST00000429350.1_RNA NM_153050.2|NM_153051.2 NP_694690.1|NP_694691.1 Q13615 MTMR3_HUMAN myotubularin related protein 3 700 phosphatidylinositol dephosphorylation cytoplasm|membrane|membrane fraction|nucleus metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1) 17 OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107) GGCCACCAAAGAGGAGAGTGGAG 0.581 8 152 --- --- --- --- CACNG2 10369 broad.mit.edu 37 22 36960608 36960608 + Frame_Shift_Del DEL G G - TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr22:36960608delG ENST00000300105.6 - 4 1743 c.762delC c.(760-762)ccfs p.P254fs NM_006078.3 NP_006069.1 Q9Y698 CCG2_HUMAN calcium channel, voltage-dependent, gamma subunit 2 254 membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1) 18 TGATGCCCACGGGGGAGGCGT 0.692 15 291 --- --- --- --- CSNK1E 1454 broad.mit.edu 37 22 38695939 38695941 + In_Frame_Del DEL TCT TCT - TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr22:38695939_38695941delTCT ENST00000396832.1 - 6 955_957 c.695_697delAGA c.(694-699)atg>a p.KM232del CSNK1E_ENST00000498529.1_5'UTR|CSNK1E_ENST00000413574.2_In_Frame_Del_p.KM232del|CSNK1E_ENST00000359867.3_In_Frame_Del_p.KM232del|CSNK1E_ENST00000400206.2_In_Frame_Del_p.KM232del|CSNK1E_ENST00000405675.3_In_Frame_Del_p.KM232del|CSNK1E_ENST00000403904.1_In_Frame_Del_p.KM232del NM_152221.2 NP_689407.1 P49674 KC1E_HUMAN casein kinase 1, epsilon 232 Protein kinase. DNA repair|G2/M transition of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|signal transduction cytosol|nucleus ATP binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 22 Melanoma(58;0.045) GGCGTTGACATCTTCTTCTCGCT 0.596 10 274 --- --- --- --- PPARA 5465 broad.mit.edu 37 22 46631062 46631063 + Frame_Shift_Ins INS - - A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chr22:46631062_46631063insA ENST00000396000.2 + 8 1457_1458 c.1192_1193insA c.(1192-1194)aaafs p.K398fs PPARA_ENST00000402126.1_Frame_Shift_Ins_p.K398fs|PPARA_ENST00000434345.2_3'UTR|PPARA_ENST00000262735.5_Frame_Shift_Ins_p.K398fs|PPARA_ENST00000407236.1_Frame_Shift_Ins_p.K398fs Q07869 PPARA_HUMAN peroxisome proliferator-activated receptor alpha 398 Ligand-binding.|Required for heterodimerization with RXRA. fatty acid metabolic process|fatty acid transport|negative regulation of appetite|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fatty acid beta-oxidation|regulation of cellular ketone metabolic process by positive regulation of transcription from an RNA polymerase II promoter|regulation of glycolysis by positive regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm drug binding|ligand-regulated transcription factor activity|lipid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|ubiquitin conjugating enzyme binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 15 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00522) Atorvastatin(DB01076)|Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Simvastatin(DB00641) AGGACACATTGAAAAAATGCAG 0.446 12 53 --- --- --- --- GTPBP6 8225 broad.mit.edu 37 X 230859 230859 + Frame_Shift_Del DEL G G - TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chrX:230859delG ENST00000326153.4 - 1 27 c.28delC c.(28-30)acfs p.H10fs O43824 GTPB6_HUMAN GTP binding protein 6 (putative) 239 intracellular GTP binding breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(3) 7 all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186) CGGTACAGGTGGGCGACGTCC 0.652 13 32 --- --- --- --- TLR8 51311 broad.mit.edu 37 X 12939402 12939403 + Frame_Shift_Ins INS - - A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chrX:12939402_12939403insA ENST00000218032.6 + 2 2330_2331 c.2243_2244insA c.(2242-2244)caafs p.Q748fs TLR8_ENST00000311912.5_Frame_Shift_Ins_p.Q766fs NM_138636.4 NP_619542.1 Q9NR97 TLR8_HUMAN toll-like receptor 8 748 cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process endosome membrane DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 50 TCCAATCTGCTAAAAACAATCA 0.441 16 118 --- --- --- --- PTCHD1 139411 broad.mit.edu 37 X 23411786 23411786 + Frame_Shift_Del DEL G G - TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chrX:23411786delG ENST00000379361.4 + 3 3011 c.2151delG c.(2149-2151)ctfs p.L717fs NM_173495.2 NP_775766.2 Q96NR3 PTHD1_HUMAN patched domain containing 1 717 cognition|smoothened signaling pathway integral to membrane|plasma membrane hedgehog receptor activity NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2) 42 CGGCATTCCTGGTGGCAGATT 0.488 36 46 --- --- --- --- FAM47C 442444 broad.mit.edu 37 X 37026773 37026773 + Frame_Shift_Del DEL T T - TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chrX:37026773delT ENST00000358047.3 + 1 342 c.290delT c.(289-291)cgfs p.L98fs NM_001013736.2 NP_001013758.1 Q5HY64 FA47C_HUMAN family with sequence similarity 47, member C 98 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 AAGAAAAAGCTGCTCAAGAAA 0.532 53 105 --- --- --- --- KDM6A 7403 broad.mit.edu 37 X 44732910 44732910 + Frame_Shift_Del DEL C C - TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chrX:44732910delC ENST00000377967.4 + 1 154 c.113delC c.(112-114)tcfs p.S38fs KDM6A_ENST00000382899.4_Frame_Shift_Del_p.S38fs|KDM6A_ENST00000543216.1_Frame_Shift_Del_p.S38fs|KDM6A_ENST00000536777.1_Frame_Shift_Del_p.S38fs NM_021140.2 NP_066963.2 O15550 KDM6A_HUMAN lysine (K)-specific demethylase 6A 38 histone H3-K4 methylation metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen p.0(8)|p.0?(6) NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29) 170 GAGGAGGCGTCCCCCAGCCTG 0.711 """D, N, F, S""" """renal, oesophageal SCC, MM""" 5 1 --- --- --- --- RAB40AL 282808 broad.mit.edu 37 X 102192368 102192368 + Frame_Shift_Del DEL C C - TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chrX:102192368delC ENST00000218249.5 + 1 169 c.122delC c.(121-123)tcfs p.S41fs NM_001031834.1 NP_001027004.1 P0C0E4 RB40L_HUMAN RAB40A, member RAS oncogene family-like 41 protein transport|small GTPase mediated signal transduction mitochondrion|plasma membrane GTP binding endometrium(4)|large_intestine(2)|lung(3)|ovary(3) 12 ACGGCCGAGTCCCCGTACAGT 0.632 25 135 --- --- --- --- MORC4 79710 broad.mit.edu 37 X 106243198 106243199 + Translation_Start_Site INS - - T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chrX:106243198_106243199insT ENST00000535534.1 - 0 275_276 MORC4_ENST00000255495.7_Start_Codon_Ins|MORC4_ENST00000355610.4_Start_Codon_Ins Q8TE76 MORC4_HUMAN MORC family CW-type zinc finger 4 ATP binding|zinc ion binding endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 28 GTACAGGAGCATTTTTTTGGCC 0.772 16 56 --- --- --- --- SLC6A14 11254 broad.mit.edu 37 X 115588851 115588852 + Frame_Shift_Ins INS - - TT TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chrX:115588851_115588852insTT ENST00000371900.4 + 13 1779_1780 c.1691_1692insTT c.(1690-1692)gttfs p.V564fs SLC6A14_ENST00000463626.1_Intron NM_007231.3 NP_009162.1 Q9UN76 S6A14_HUMAN solute carrier family 6 (amino acid transporter), member 14 564 cellular amino acid metabolic process|response to toxin integral to membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 23 L-Proline(DB00172) TGGGGAGTTGCTTTAGGCTGGT 0.361 28 209 --- --- --- --- GPR112 139378 broad.mit.edu 37 X 135430440 135430441 + Frame_Shift_Ins INS - - A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chrX:135430440_135430441insA ENST00000394143.1 + 6 4866_4867 c.4575_4576insA c.(4573-4578)tcaaaafs p.SK1525fs GPR112_ENST00000412101.1_Frame_Shift_Ins_p.SK1320fs|GPR112_ENST00000394141.1_Frame_Shift_Ins_p.SK1320fs|GPR112_ENST00000287534.4_Frame_Shift_Ins_p.SK1462fs|GPR112_ENST00000370652.1_Frame_Shift_Ins_p.SK1525fs NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 1525 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) CCTTCACCTCCAAAAAAGTTTC 0.421 13 110 --- --- --- --- FGF13 2258 broad.mit.edu 37 X 137939822 137939823 + Frame_Shift_Ins INS - - G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chrX:137939822_137939823insG ENST00000370603.3 - 2 67_68 c.68_69insC c.(67-69)cggfs p.R23fs FGF13_ENST00000541469.1_Intron|FGF13_ENST00000441825.2_5'UTR Q92913 FGF13_HUMAN fibroblast growth factor 13 0 cell-cell signaling|MAPKKK cascade|nervous system development cytoplasm|nucleus growth factor activity|protein kinase activator activity breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1) 24 Acute lymphoblastic leukemia(192;0.000127) CCTGTGTGCCAGGGGGGGCGTC 0.431 8 38 --- --- --- --- MAGEC1 9947 broad.mit.edu 37 X 140994993 140994993 + Frame_Shift_Del DEL G G - TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30c689e3-563d-41f1-b08e-9322653e2eb2 1ad5dca0-8616-4d2d-82b7-05098d7844d9 g.chrX:140994993delG ENST00000285879.4 + 4 2089 c.1803delG c.(1801-1803)cafs p.Q601fs MAGEC1_ENST00000406005.2_Intron NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 601 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) GCCCTCCTCAGGGGGAGGACT 0.582 HNSCC(15;0.026) 8 542 --- --- --- ---