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 ZNF91 7644 broad.mit.edu 37 19 23544385 23544385 + Missense_Mutation SNP C C G TCGA-HD-A6HZ-01A-12D-A31L-08 TCGA-HD-A6HZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b98da821-cf8d-4641-bd2b-f803d471428a 98833ed3-146e-475c-ab5a-2de6f2eeedbe g.chr19:23544385C>G ENST00000300619.7 - 4 1601 c.1396G>C c.(1396-1398)Gaa>Caa p.E466Q ZNF91_ENST00000397082.2_Missense_Mutation_p.E434Q|ZNF91_ENST00000599743.1_Intron NM_003430.2 NP_003421.2 Q05481 ZNF91_HUMAN zinc finger protein 91 466 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611) TTGCCACATTCTTTACATTTG 0.378000 8 66 0 0 1 0 0 PGLYRP2 114770 broad.mit.edu 37 19 15582727 15582727 + Silent SNP C C T rs147572500 TCGA-HD-A6HZ-01A-12D-A31L-08 TCGA-HD-A6HZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b98da821-cf8d-4641-bd2b-f803d471428a 98833ed3-146e-475c-ab5a-2de6f2eeedbe g.chr19:15582727C>T ENST00000292609.4 - 3 1446 c.1317G>A c.(1315-1317)acG>acA p.T439T PGLYRP2_ENST00000340880.4_Silent_p.T439T Q96PD5 PGRP2_HUMAN peptidoglycan recognition protein 2 439 defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process extracellular region|intracellular|membrane N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1) 28 CCCAGCCTTGCGTGTCCTGGT 0.672000 10 51 0 0 1 0 0 MST1 4485 broad.mit.edu 37 3 49723545 49723545 + Missense_Mutation SNP G G A rs4052562 TCGA-HD-A6HZ-01A-12D-A31L-08 TCGA-HD-A6HZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b98da821-cf8d-4641-bd2b-f803d471428a 98833ed3-146e-475c-ab5a-2de6f2eeedbe g.chr3:49723545G>A ENST00000449682.2 - 9 1458 c.1097C>T c.(1096-1098)gCg>gTg p.A366V MST1_ENST00000383728.3_3'UTR NM_020998.3 NP_066278.3 P26927 HGFL_HUMAN macrophage stimulating 1 (hepatocyte growth factor-like) 352 proteolysis extracellular region serine-type endopeptidase activity NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2) 41 BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) GCAAAAGGCCGCGCGCATGCC 0.667000 3 27 0 0 1 0 0 TRAV8-6 28680 broad.mit.edu 37 14 22447081 22447081 + RNA SNP A A C TCGA-HD-A6HZ-01A-12D-A31L-08 TCGA-HD-A6HZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b98da821-cf8d-4641-bd2b-f803d471428a 98833ed3-146e-475c-ab5a-2de6f2eeedbe g.chr14:22447081A>C ENST00000390443.3 + 0 282 ACCAGAGCCCAGTCTGTGACC 0.458000 OREG0022573 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 22 194 0 0 1 0 0 ZNF536 9745 broad.mit.edu 37 19 31025841 31025841 + Missense_Mutation SNP G G A TCGA-HD-A6HZ-01A-12D-A31L-08 TCGA-HD-A6HZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b98da821-cf8d-4641-bd2b-f803d471428a 98833ed3-146e-475c-ab5a-2de6f2eeedbe g.chr19:31025841G>A ENST00000355537.3 + 3 2405 c.2258G>A c.(2257-2259)tGc>tAc p.C753Y NM_014717.1 NP_055532.1 O15090 ZN536_HUMAN zinc finger protein 536 753 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) ATGAAGGACTGCCCGTACTGT 0.597000 31 143 0 0 1 0 0 ATP2B3 492 broad.mit.edu 37 X 152813367 152813367 + Missense_Mutation SNP C C T TCGA-HD-A6HZ-01A-12D-A31L-08 TCGA-HD-A6HZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b98da821-cf8d-4641-bd2b-f803d471428a 98833ed3-146e-475c-ab5a-2de6f2eeedbe g.chrX:152813367C>T ENST00000370186.1 + 7 1317 c.991C>T c.(991-993)Cgg>Tgg p.R331W ATP2B3_ENST00000359149.3_Missense_Mutation_p.R345W|ATP2B3_ENST00000393842.1_Missense_Mutation_p.R331W|ATP2B3_ENST00000349466.2_Missense_Mutation_p.R345W|ATP2B3_ENST00000370181.2_Missense_Mutation_p.R331W|ATP2B3_ENST00000263519.4_Missense_Mutation_p.R345W Q16720 AT2B3_HUMAN ATPase, Ca++ transporting, plasma membrane 3 345 ATP biosynthetic process|platelet activation integral to membrane|plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3) 50 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GATGGAGGAGCGGGAGAAGAA 0.582000 23 49 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577022 7577022 + Nonsense_Mutation SNP G G A rs121913344 TCGA-HD-A6HZ-01A-12D-A31L-08 TCGA-HD-A6HZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b98da821-cf8d-4641-bd2b-f803d471428a 98833ed3-146e-475c-ab5a-2de6f2eeedbe g.chr17:7577022G>A ENST00000420246.2 - 8 1048 c.916C>T c.(916-918)Cga>Tga p.R306* TP53_ENST00000269305.4_Nonsense_Mutation_p.R306*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R306*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R306*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R306*|TP53_ENST00000413465.2_Intron NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 306 Interaction with CARM1.|Interaction with HIPK1 (By similarity). R -> P (in LFS; germline mutation and in a sporadic cancer; somatic mutation).|R -> Q (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.R306*(133)|p.0?(8)|p.?(3)|p.R306fs*39(2)|p.K305fs*1(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) TGCTTACCTCGCTTAGTGCTC 0.562000 R306*(HCC1937_BREAST)|R306*(JURLMK1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R306*(MFE296_ENDOMETRIUM)|R306*(MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R306*(RCM1_LARGE_INTESTINE) 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) 30 66 0 0 1 0 0 DRD5 1816 broad.mit.edu 37 4 9783962 9783962 + Silent SNP G G T TCGA-HD-A6HZ-01A-12D-A31L-08 TCGA-HD-A6HZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b98da821-cf8d-4641-bd2b-f803d471428a 98833ed3-146e-475c-ab5a-2de6f2eeedbe g.chr4:9783962G>T ENST00000304374.2 + 1 705 c.309G>T c.(307-309)gtG>gtT p.V103V NM_000798.4 NP_000789.1 P21918 DRD5_HUMAN dopamine receptor D5 103 activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic integral to plasma membrane p.V103V(1) NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1) 57 Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624) TCGCCGAGGTGGCCGGTTACT 0.612000 5 56 5.18039e-06 5.54077e-06 1 1 0 ZFR 51663 broad.mit.edu 37 5 32407029 32407029 + Silent SNP A A T rs139769264 TCGA-HD-A6HZ-01A-12D-A31L-08 TCGA-HD-A6HZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b98da821-cf8d-4641-bd2b-f803d471428a 98833ed3-146e-475c-ab5a-2de6f2eeedbe g.chr5:32407029A>T ENST00000265069.8 - 6 984 c.882T>A c.(880-882)gcT>gcA p.A294A NM_016107.3 NP_057191.2 Q96KR1 ZFR_HUMAN zinc finger RNA binding protein 294 Ala-rich. multicellular organismal development chromosome|cytoplasm|nucleus DNA binding|RNA binding|zinc ion binding p.A294A(1) breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2) 32 STAD - Stomach adenocarcinoma(35;0.19) cagcagcagcagctgctgctg 0.483000 3 34 0 0 1 0 0 AHNAK2 113146 broad.mit.edu 37 14 105414628 105414628 + Missense_Mutation SNP G G T TCGA-HD-A6HZ-01A-12D-A31L-08 TCGA-HD-A6HZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b98da821-cf8d-4641-bd2b-f803d471428a 98833ed3-146e-475c-ab5a-2de6f2eeedbe g.chr14:105414628G>T ENST00000333244.5 - 7 7279 c.7160C>A c.(7159-7161)cCa>cAa p.P2387Q AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 2387 nucleus p.K2385fs*18(1) 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) GGGGCCCTCTGGGAGTTTCAC 0.637000 36 292 8.73648e-17 1.00429e-16 1 1 0 GRIN3B 116444 broad.mit.edu 37 19 1005239 1005239 + Missense_Mutation SNP G G C TCGA-HD-A6HZ-01A-12D-A31L-08 TCGA-HD-A6HZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b98da821-cf8d-4641-bd2b-f803d471428a 98833ed3-146e-475c-ab5a-2de6f2eeedbe g.chr19:1005239G>C ENST00000234389.3 + 3 1758 c.1739G>C c.(1738-1740)gGc>gCc p.G580A GRIN3B_ENST00000588335.1_3'UTR NM_138690.1 NP_619635.1 O60391 NMD3B_HUMAN glutamate receptor, ionotropic, N-methyl-D-aspartate 3B 580 ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1) 11 Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066) 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) Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173) ACGTGGCTGGGCGTCTTTGCG 0.677000 5 47 0 0 1 0 0 ADAMTS3 9508 broad.mit.edu 37 4 73414354 73414354 + Silent SNP C C G TCGA-HD-A6HZ-01A-12D-A31L-08 TCGA-HD-A6HZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b98da821-cf8d-4641-bd2b-f803d471428a 98833ed3-146e-475c-ab5a-2de6f2eeedbe g.chr4:73414354C>G ENST00000286657.4 - 3 381 c.345G>C c.(343-345)ctG>ctC p.L115L ADAMTS3_ENST00000505193.1_5'UTR NM_014243.2 NP_055058.2 O15072 ATS3_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 3 115 collagen catabolic process|collagen fibril organization|proteolysis proteinaceous extracellular matrix heparin binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) TCCCAGGCACCAGAGATGTCT 0.463000 13 91 0 0 1 0 0 SLC18A3 6572 broad.mit.edu 37 10 50819604 50819604 + Missense_Mutation SNP G G A TCGA-HD-A6HZ-01A-12D-A31L-08 TCGA-HD-A6HZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b98da821-cf8d-4641-bd2b-f803d471428a 98833ed3-146e-475c-ab5a-2de6f2eeedbe g.chr10:50819604G>A ENST00000374115.3 + 1 1258 c.818G>A c.(817-819)cGg>cAg p.R273Q CHAT_ENST00000339797.1_Intron NM_003055.2 NP_003046.2 Q16572 VACHT_HUMAN solute carrier family 18 (vesicular acetylcholine transporter), member 3 273 neurotransmitter secretion clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction acetylcholine transmembrane transporter activity endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2) 43 GCACGGGCTCGGGCCAACCTG 0.662000 14 59 0 0 1 0 0 C2orf73 129852 broad.mit.edu 37 2 54558137 54558137 + Splice_Site SNP C C T TCGA-HD-A6HZ-01A-12D-A31L-08 TCGA-HD-A6HZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b98da821-cf8d-4641-bd2b-f803d471428a 98833ed3-146e-475c-ab5a-2de6f2eeedbe g.chr2:54558137C>T ENST00000398634.2 + 1 67 c.26_splice c.e1+1 p.Q9_splice C2orf73_ENST00000405749.1_Splice_Site_p.Q9_splice|C2orf73_ENST00000491538.1_3'UTR NM_001100396.1 NP_001093866.1 Q8N5S3 CB073_HUMAN chromosome 2 open reading frame 73 9 breast(2) 2 AGATAAGCATCAGTAAGTGCT 0.567000 17 43 0 0 1 0 0 DHX16 8449 broad.mit.edu 37 6 30638712 30638712 + Missense_Mutation SNP G G A TCGA-HD-A6HZ-01A-12D-A31L-08 TCGA-HD-A6HZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b98da821-cf8d-4641-bd2b-f803d471428a 98833ed3-146e-475c-ab5a-2de6f2eeedbe g.chr6:30638712G>A ENST00000376442.3 - 3 659 c.464C>T c.(463-465)aCa>aTa p.T155I NM_001164239.1|NM_003587.4 NP_001157711.1|NP_003578.2 O60231 DHX16_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 16 155 mRNA processing|RNA splicing nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity kidney(2)|ovary(2) 4 TGGCTTCTCTGTCTGCTGTTT 0.567000 19 83 0 0 1 0 0 USP30 84749 broad.mit.edu 37 12 109520485 109520485 + Silent SNP G G A TCGA-HD-A6HZ-01A-12D-A31L-08 TCGA-HD-A6HZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b98da821-cf8d-4641-bd2b-f803d471428a 98833ed3-146e-475c-ab5a-2de6f2eeedbe g.chr12:109520485G>A ENST00000257548.5 + 10 978 c.885G>A c.(883-885)acG>acA p.T295T USP30_ENST00000392784.2_Silent_p.T264T NM_032663.3 NP_116052.2 Q70CQ3 UBP30_HUMAN ubiquitin specific peptidase 30 295 ubiquitin-dependent protein catabolic process integral to membrane|mitochondrial outer membrane cysteine-type peptidase activity|ubiquitin thiolesterase activity p.T286T(1) endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2) 28 CCAAGGGAACGTTGAACGGGG 0.453000 17 39 0 0 1 0 0 AHNAK2 113146 broad.mit.edu 37 14 105413483 105413483 + Missense_Mutation SNP C C A TCGA-HD-A6HZ-01A-12D-A31L-08 TCGA-HD-A6HZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b98da821-cf8d-4641-bd2b-f803d471428a 98833ed3-146e-475c-ab5a-2de6f2eeedbe g.chr14:105413483C>A ENST00000333244.5 - 7 8424 c.8305G>T c.(8305-8307)Gcc>Tcc p.A2769S AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 2769 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) ACATCGGGGGCTGTCACTTCC 0.617000 33 256 1.67305e-13 1.90542e-13 1 1 0 LGSN 51557 broad.mit.edu 37 6 63995530 63995530 + Missense_Mutation SNP C C T TCGA-HD-A6HZ-01A-12D-A31L-08 TCGA-HD-A6HZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b98da821-cf8d-4641-bd2b-f803d471428a 98833ed3-146e-475c-ab5a-2de6f2eeedbe g.chr6:63995530C>T ENST00000370658.5 - 3 325 c.292G>A c.(292-294)Gtg>Atg p.V98M LGSN_ENST00000370657.4_Missense_Mutation_p.V98M NM_001143940.1|NM_016571.2 NP_001137412.1|NP_057655.2 Q5TDP6 LGSN_HUMAN lengsin, lens protein with glutamine synthetase domain 98 glutamine biosynthetic process glutamate-ammonia ligase activity NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 L-Glutamic Acid(DB00142) GACCTGGACACGCCGTGGAGG 0.428000 4 25 0 0 1 0 0 TSTD2 158427 broad.mit.edu 37 9 100388079 100388079 + Silent SNP T T G TCGA-HD-A6HZ-01A-12D-A31L-08 TCGA-HD-A6HZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b98da821-cf8d-4641-bd2b-f803d471428a 98833ed3-146e-475c-ab5a-2de6f2eeedbe g.chr9:100388079T>G ENST00000341170.4 - 3 748 c.366A>C c.(364-366)tcA>tcC p.S122S TSTD2_ENST00000354801.2_5'UTR|TSTD2_ENST00000375172.2_5'UTR|TSTD2_ENST00000375165.1_5'UTR NM_139246.4 NP_640339.4 Q5T7W7 TSTD2_HUMAN thiosulfate sulfurtransferase (rhodanese)-like domain containing 2 122 large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 15 AAAGACTCTTTGAGGTGCTCA 0.433000 18 94 0 0 1 0 0 OR6C68 403284 broad.mit.edu 37 12 55887079 55887079 + Silent SNP T T A TCGA-HD-A6HZ-01A-12D-A31L-08 TCGA-HD-A6HZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b98da821-cf8d-4641-bd2b-f803d471428a 98833ed3-146e-475c-ab5a-2de6f2eeedbe g.chr12:55887079T>A ENST00000379662.1 + 1 933 c.933T>A c.(931-933)atT>atA p.I311I RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA|OR6C68_ENST00000548615.1_Silent_p.I306I A6NDL8 O6C68_HUMAN olfactory receptor, family 6, subfamily C, member 68 306 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 15 TCAAAAAAATTGCATTTCGTT 0.289000 8 16 0 0 1 0 0 IGHA2 3494 broad.mit.edu 37 14 106054703 106054703 + RNA SNP C C T TCGA-HD-A6HZ-01A-12D-A31L-08 TCGA-HD-A6HZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b98da821-cf8d-4641-bd2b-f803d471428a 98833ed3-146e-475c-ab5a-2de6f2eeedbe g.chr14:106054703C>T ENST00000390539.2 - 0 29 CGAGGCTCAGCGGGAAGACCT 0.637000 25 139 0 0 1 0 0 KLHL9 55958 broad.mit.edu 37 9 21334148 21334148 + Missense_Mutation SNP C C T TCGA-HD-A6HZ-01A-12D-A31L-08 TCGA-HD-A6HZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b98da821-cf8d-4641-bd2b-f803d471428a 98833ed3-146e-475c-ab5a-2de6f2eeedbe g.chr9:21334148C>T ENST00000359039.4 - 1 1231 c.711G>A c.(709-711)atG>atA p.M237I KLHL9_ENST00000537938.1_Missense_Mutation_p.M169I Q9P2J3 KLHL9_HUMAN kelch-like family member 9 237 BACK. cytokinesis|mitosis|protein ubiquitination Cul3-RING ubiquitin ligase complex|midbody endometrium(9)|large_intestine(7)|lung(10)|ovary(4)|skin(2) 32 Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118) GAATATTCTTCATTAACTTTG 0.423000 4 61 0 0 1 0 0 ABCG8 64241 broad.mit.edu 37 2 44079860 44079860 + Missense_Mutation SNP C C G TCGA-HD-A6HZ-01A-12D-A31L-08 TCGA-HD-A6HZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b98da821-cf8d-4641-bd2b-f803d471428a 98833ed3-146e-475c-ab5a-2de6f2eeedbe g.chr2:44079860C>G ENST00000272286.2 + 6 907 c.817C>G c.(817-819)Cgc>Ggc p.R273G NM_022437.2 NP_071882.1 Q9H221 ABCG8_HUMAN ATP-binding cassette, sub-family G (WHITE), member 8 273 ABC transporter. cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption apical plasma membrane|integral to membrane ATP binding|ATPase activity|protein heterodimerization activity NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 45 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) CCACCAGCCTCGCTCTGACAT 0.592000 4 72 0 0 1 0 0 ARIH2 10425 broad.mit.edu 37 3 49008082 49008082 + Missense_Mutation SNP G G A TCGA-HD-A6HZ-01A-12D-A31L-08 TCGA-HD-A6HZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b98da821-cf8d-4641-bd2b-f803d471428a 98833ed3-146e-475c-ab5a-2de6f2eeedbe g.chr3:49008082G>A ENST00000356401.4 + 8 1054 c.715G>A c.(715-717)Gta>Ata p.V239I ARIH2_ENST00000490095.1_3'UTR|ARIH2_ENST00000449376.1_Missense_Mutation_p.V239I NM_006321.2 NP_006312.1 O95376 ARI2_HUMAN ariadne RBR E3 ubiquitin protein ligase 2 239 developmental cell growth|hemopoietic stem cell proliferation|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1) 13 BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269) GGTTATTCGGGTACAGGAGCC 0.547000 4 86 0 0 1 0 0 ZNF292 23036 broad.mit.edu 37 6 87968276 87968276 + Silent SNP T T G TCGA-HD-A6HZ-01A-12D-A31L-08 TCGA-HD-A6HZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b98da821-cf8d-4641-bd2b-f803d471428a 98833ed3-146e-475c-ab5a-2de6f2eeedbe g.chr6:87968276T>G ENST00000369577.3 + 8 4972 c.4929T>G c.(4927-4929)gcT>gcG p.A1643A ZNF292_ENST00000339907.4_Silent_p.A1638A NM_015021.1 NP_055836.1 O60281 ZN292_HUMAN zinc finger protein 292 1643 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 89 all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05) BRCA - Breast invasive adenocarcinoma(108;0.0199) CACCTAACGCTTCCCAAAACT 0.383000 7 31 0 0 1 0 0 TRAPPC11 60684 broad.mit.edu 37 4 184606264 184606264 + Missense_Mutation SNP C C G TCGA-HD-A6HZ-01A-12D-A31L-08 TCGA-HD-A6HZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b98da821-cf8d-4641-bd2b-f803d471428a 98833ed3-146e-475c-ab5a-2de6f2eeedbe g.chr4:184606264C>G ENST00000334690.6 + 16 1797 c.1595C>G c.(1594-1596)tCt>tGt p.S532C TRAPPC11_ENST00000357207.4_Missense_Mutation_p.S532C|TRAPPC11_ENST00000512476.1_Missense_Mutation_p.S138C NM_021942.5 NP_068761.4 Q7Z392 CD041_HUMAN trafficking protein particle complex 11 532 GACCAGAAGTCTCGGATAGAA 0.299000 5 20 0 0 1 0 0 GRM3 2913 broad.mit.edu 37 7 86493653 86493653 + Missense_Mutation SNP C C A rs144561011 by1000genomes TCGA-HD-A6HZ-01A-12D-A31L-08 TCGA-HD-A6HZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b98da821-cf8d-4641-bd2b-f803d471428a 98833ed3-146e-475c-ab5a-2de6f2eeedbe g.chr7:86493653C>A ENST00000439827.1 + 5 1726 c.1555C>A c.(1555-1557)Cac>Aac p.H519N GRM3_ENST00000361669.2_Silent_p.S874S|GRM3_ENST00000546348.1_Silent_p.S466S|GRM3_ENST00000394720.2_Missense_Mutation_p.H517N|GRM3_ENST00000536043.1_Silent_p.S746S Q14832 GRM3_HUMAN glutamate receptor, metabotropic 3 0 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) TCCTCGACTCCACCACCTCAT 0.473000 12 135 0.00185496 0.00188562 1 1 0 DUSP6 1848 broad.mit.edu 37 12 89745800 89745800 + Missense_Mutation SNP C C A TCGA-HD-A6HZ-01A-12D-A31L-08 TCGA-HD-A6HZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b98da821-cf8d-4641-bd2b-f803d471428a 98833ed3-146e-475c-ab5a-2de6f2eeedbe g.chr12:89745800C>A ENST00000279488.7 - 1 1248 c.17G>T c.(16-18)aGa>aTa p.R6I DUSP6_ENST00000308385.6_Missense_Mutation_p.R6I NM_001946.2 NP_001937.2 Q16828 DUS6_HUMAN dual specificity phosphatase 6 6 dorsal/ventral pattern formation|inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|nerve growth factor receptor signaling pathway|positive regulation of apoptosis|regulation of endodermal cell fate specification|regulation of fibroblast growth factor receptor signaling pathway|regulation of heart growth|response to nitrosative stress|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 MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity large_intestine(5)|lung(8)|skin(2)|urinary_tract(1) 16 GGGCACGGGTCTGAGCGTATC 0.677000 5 136 1.23904e-05 1.30258e-05 1 1 0 APBB1 322 broad.mit.edu 37 11 6422634 6422634 + Missense_Mutation SNP C C T rs144723218 TCGA-HD-A6HZ-01A-12D-A31L-08 TCGA-HD-A6HZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b98da821-cf8d-4641-bd2b-f803d471428a 98833ed3-146e-475c-ab5a-2de6f2eeedbe g.chr11:6422634C>T ENST00000389906.2 - 10 1628 c.1529G>A c.(1528-1530)cGc>cAc p.R510H APBB1_ENST00000530885.1_Missense_Mutation_p.R288H|APBB1_ENST00000533407.1_3'UTR|APBB1_ENST00000524626.1_5'UTR|APBB1_ENST00000311051.3_Missense_Mutation_p.R508H|APBB1_ENST00000299402.6_Missense_Mutation_p.R508H NM_001257325.1 NP_001244254.1 O00213 APBB1_HUMAN amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65) 510 apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1) 24 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194) TACCAAGCAGCGGGCATTACG 0.562000 13 37 0 0 1 0 0 AHNAK2 113146 broad.mit.edu 37 14 105415385 105415385 + Missense_Mutation SNP G G T TCGA-HD-A6HZ-01A-12D-A31L-08 TCGA-HD-A6HZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b98da821-cf8d-4641-bd2b-f803d471428a 98833ed3-146e-475c-ab5a-2de6f2eeedbe g.chr14:105415385G>T ENST00000333244.5 - 7 6522 c.6403C>A c.(6403-6405)Ctg>Atg p.L2135M AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 2135 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) TCCCCCTGCAGATGCGCACTA 0.582000 57 160 2.80097e-13 3.16072e-13 1 1 0 CCNE1 898 broad.mit.edu 37 19 30308111 30308111 + Missense_Mutation SNP A A G TCGA-HD-A6HZ-01A-12D-A31L-08 TCGA-HD-A6HZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b98da821-cf8d-4641-bd2b-f803d471428a 98833ed3-146e-475c-ab5a-2de6f2eeedbe g.chr19:30308111A>G ENST00000262643.3 + 5 527 c.248A>G c.(247-249)gAt>gGt p.D83G CCNE1_ENST00000357943.5_Missense_Mutation_p.D83G|CCNE1_ENST00000444983.2_Missense_Mutation_p.D68G NM_001238.2 NP_001229.1 P24864 CCNE1_HUMAN cyclin E1 83 androgen receptor signaling pathway|cell division|positive regulation of transcription, DNA-dependent|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle cytosol|nucleoplasm androgen receptor binding|protein kinase binding|transcription coactivator activity endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|skin(1) 20 all_cancers(1;2.19e-31)|all_epithelial(1;1.49e-30)|all_lung(1;1.37e-11)|Lung NSC(1;2.35e-11)|Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195) UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|Epithelial(1;6.85e-98)|all cancers(1;1.38e-94)|OV - Ovarian serous cystadenocarcinoma(1;1.38e-90)|STAD - Stomach adenocarcinoma(5;5.8e-07)|GBM - Glioblastoma multiforme(4;0.0394)|Lung(7;0.092)|LUAD - Lung adenocarcinoma(5;0.115)|BRCA - Breast invasive adenocarcinoma(6;0.183)|COAD - Colon adenocarcinoma(1;0.188)|Colorectal(1;0.202) AAAGAAGATGATGACCGGGTT 0.522000 A serous ovarian 9 80 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577574 7577574 + Missense_Mutation SNP T T C TCGA-HD-A6HZ-01A-12D-A31L-08 TCGA-HD-A6HZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b98da821-cf8d-4641-bd2b-f803d471428a 98833ed3-146e-475c-ab5a-2de6f2eeedbe g.chr17:7577574T>C ENST00000420246.2 - 7 839 c.707A>G c.(706-708)tAc>tGc p.Y236C TP53_ENST00000269305.4_Missense_Mutation_p.Y236C|TP53_ENST00000445888.2_Missense_Mutation_p.Y236C|TP53_ENST00000455263.2_Missense_Mutation_p.Y236C|TP53_ENST00000359597.4_Missense_Mutation_p.Y236C|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Missense_Mutation_p.Y236C NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 236 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.Y236C(61)|p.0?(8)|p.?(5)|p.Y143C(5)|p.Y236del(4)|p.Y236S(3)|p.Y236_M237delYM(1)|p.I232_Y236delIHYNY(1)|p.H233fs*6(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.Y236fs*4(1)|p.H233_C242del10(1)|p.N235_Y236delNY(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GTTACACATGTAGTTGTAGTG 0.572000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 11 67 0 0 1 0 0 NCOA1 8648 broad.mit.edu 37 2 24985573 24985573 + Silent SNP G G A TCGA-HD-A6HZ-01A-12D-A31L-08 TCGA-HD-A6HZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b98da821-cf8d-4641-bd2b-f803d471428a 98833ed3-146e-475c-ab5a-2de6f2eeedbe g.chr2:24985573G>A ENST00000405141.1 + 23 4794 c.4083G>A c.(4081-4083)ctG>ctA p.L1361L NCOA1_ENST00000538539.1_Silent_p.L1361L|NCOA1_ENST00000348332.3_Silent_p.L1361L|NCOA1_ENST00000288599.5_Silent_p.L1361L|NCOA1_ENST00000407230.1_Silent_p.L1210L|NCOA1_ENST00000406961.1_Silent_p.L1361L|NCOA1_ENST00000395856.3_Silent_p.L1361L Q15788 NCOA1_HUMAN nuclear receptor coactivator 1 1361 PAX3/NCOA1(8) breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 53 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) ATCCCGCACTGAGACACACAG 0.398000 T PAX3 alveolar rhadomyosarcoma 30 244 0 0 1 0 0 PAX1 5075 broad.mit.edu 37 20 21689276 21689276 + Missense_Mutation SNP G G A TCGA-HD-A6HZ-01A-12D-A31L-08 TCGA-HD-A6HZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b98da821-cf8d-4641-bd2b-f803d471428a 98833ed3-146e-475c-ab5a-2de6f2eeedbe g.chr20:21689276G>A ENST00000398485.2 + 3 1051 c.997G>A c.(997-999)Gcc>Acc p.A333T PAX1_ENST00000444366.2_Missense_Mutation_p.A309T|PAX1_ENST00000460221.1_3'UTR NM_001257096.1|NM_006192.4 NP_001244025.1|NP_006183.2 P15863 PAX1_HUMAN paired box 1 333 regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter nucleus DNA binding autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3) 38 GGCCTTCCCCGCCACCCCCGC 0.612000 13 75 0 0 1 0 0 SLC38A10 124565 broad.mit.edu 37 17 79226454 79226454 + Missense_Mutation SNP G G A TCGA-HD-A6HZ-01A-12D-A31L-08 TCGA-HD-A6HZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b98da821-cf8d-4641-bd2b-f803d471428a 98833ed3-146e-475c-ab5a-2de6f2eeedbe g.chr17:79226454G>A ENST00000374759.3 - 13 1869 c.1486C>T c.(1486-1488)Cgc>Tgc p.R496C SLC38A10_ENST00000288439.5_Missense_Mutation_p.R496C NM_001037984.1 NP_001033073.1 Q9HBR0 S38AA_HUMAN solute carrier family 38, member 10 496 amino acid transport|sodium ion transport integral to membrane NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 all_neural(118;0.0804)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117) GGCTCGTGGCGGTGGGCCTCG 0.627000 12 52 0 0 1 0 0 SIGLEC10 89790 broad.mit.edu 37 19 51918188 51918188 + Nonsense_Mutation SNP C C T TCGA-HD-A6HZ-01A-12D-A31L-08 TCGA-HD-A6HZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b98da821-cf8d-4641-bd2b-f803d471428a 98833ed3-146e-475c-ab5a-2de6f2eeedbe g.chr19:51918188C>T ENST00000356298.5 - 8 1621 c.1505G>A c.(1504-1506)tGg>tAg p.W502* SIGLEC10_ENST00000339313.5_Nonsense_Mutation_p.W502*|CTD-2616J11.3_ENST00000532473.1_RNA|SIGLEC10_ENST00000442846.3_Intron|SIGLEC10_ENST00000436984.2_Intron|SIGLEC10_ENST00000439889.2_Nonsense_Mutation_p.W444*|SIGLEC10_ENST00000353836.5_Intron|SIGLEC10_ENST00000432469.2_Intron|SIGLEC10_ENST00000441969.3_Intron|SIGLEC10_ENST00000525998.1_Intron NM_033130.4 NP_149121.2 Q96LC7 SIG10_HUMAN sialic acid binding Ig-like lectin 10 502 cell adhesion extracellular region|integral to membrane|plasma membrane sugar binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101) GCTGTTGGCCCAGGGCCCGGC 0.692000 22 76 0 0 1 0 0 DYRK3 8444 broad.mit.edu 37 1 206822161 206822161 + Missense_Mutation SNP C C T TCGA-HD-A6HZ-01A-12D-A31L-08 TCGA-HD-A6HZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b98da821-cf8d-4641-bd2b-f803d471428a 98833ed3-146e-475c-ab5a-2de6f2eeedbe g.chr1:206822161C>T ENST00000367106.1 + 4 2031 c.1558C>T c.(1558-1560)Cgg>Tgg p.R520W DYRK3_ENST00000367108.3_Missense_Mutation_p.R520W|DYRK3_ENST00000367109.2_Missense_Mutation_p.R540W|DYRK3_ENST00000489878.1_Intron O43781 DYRK3_HUMAN dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3 540 Protein kinase. erythrocyte differentiation nucleus ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)|skin(1)|stomach(2) 25 Breast(84;0.183) BRCA - Breast invasive adenocarcinoma(75;0.166) GTCAGGGAAACGGGTAGTTAA 0.493000 8 42 0 0 1 0 0 NFE2L2 4780 broad.mit.edu 37 2 178095964 178095964 + Missense_Mutation SNP C C G TCGA-HD-A6HZ-01A-12D-A31L-08 TCGA-HD-A6HZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b98da821-cf8d-4641-bd2b-f803d471428a 98833ed3-146e-475c-ab5a-2de6f2eeedbe g.chr2:178095964C>G ENST00000397062.3 - 5 1921 c.1367G>C c.(1366-1368)aGa>aCa p.R456T NFE2L2_ENST00000464747.1_Missense_Mutation_p.R440T|NFE2L2_ENST00000446151.2_Missense_Mutation_p.R433T|NFE2L2_ENST00000397063.4_Missense_Mutation_p.R440T NM_006164.4 NP_006155.2 Q16236 NF2L2_HUMAN nuclear factor, erythroid 2-like 2 456 transcription from RNA polymerase II promoter centrosome|cytosol|nucleus|plasma membrane protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 158 Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935) AAGTTCATCTCTTGTGAGATG 0.438000 Mis """NSCLC, HNSCC""" HNSCC(56;0.16) 11 84 0 0 1 0 0 FOXJ2 55810 broad.mit.edu 37 12 8196668 8196668 + Missense_Mutation SNP C C G TCGA-HD-A6HZ-01A-12D-A31L-08 TCGA-HD-A6HZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b98da821-cf8d-4641-bd2b-f803d471428a 98833ed3-146e-475c-ab5a-2de6f2eeedbe g.chr12:8196668C>G ENST00000162391.3 + 5 1744 c.599C>G c.(598-600)tCt>tGt p.S200C FOXJ2_ENST00000428177.2_Missense_Mutation_p.S200C NM_018416.2 NP_060886.1 Q9P0K8 FOXJ2_HUMAN forkhead box J2 200 embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development nucleolus|transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific 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 autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 16 Kidney(36;0.0944) AGCCCCACATCTATAGCCAGC 0.537000 13 112 0 0 1 0 0 AHNAK2 113146 broad.mit.edu 37 14 105404671 105404671 + Missense_Mutation SNP G G A TCGA-HD-A6HZ-01A-12D-A31L-08 TCGA-HD-A6HZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b98da821-cf8d-4641-bd2b-f803d471428a 98833ed3-146e-475c-ab5a-2de6f2eeedbe g.chr14:105404671G>A ENST00000333244.5 - 7 17236 c.17117C>T c.(17116-17118)tCa>tTa p.S5706L AHNAK2_ENST00000557457.1_Missense_Mutation_p.S704L NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 5706 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) GGTAGGAGATGAGGAGAACCC 0.473000 3 20 0 0 1 0 0 ZNF318 24149 broad.mit.edu 37 6 43323362 43323362 + Silent SNP C C G TCGA-HD-A6HZ-01A-12D-A31L-08 TCGA-HD-A6HZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b98da821-cf8d-4641-bd2b-f803d471428a 98833ed3-146e-475c-ab5a-2de6f2eeedbe g.chr6:43323362C>G ENST00000361428.2 - 4 1787 c.1710G>C c.(1708-1710)ctG>ctC p.L570L ZNF318_ENST00000318149.3_Silent_p.L570L NM_014345.2 NP_055160.2 Q5VUA4 ZN318_HUMAN zinc finger protein 318 570 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|zinc ion binding autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 61 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579) CTGAAGACGGCAGGGAGCTTG 0.473000 32 67 0 0 1 0 0 HOXA7 3204 broad.mit.edu 37 7 27195954 27195954 + Missense_Mutation SNP C C T TCGA-HD-A6HZ-01A-12D-A31L-08 TCGA-HD-A6HZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b98da821-cf8d-4641-bd2b-f803d471428a 98833ed3-146e-475c-ab5a-2de6f2eeedbe g.chr7:27195954C>T ENST00000242159.3 - 1 344 c.211G>A c.(211-213)Ggc>Agc p.G71S NM_006896.3 NP_008827.2 P31268 HXA7_HUMAN homeobox A7 71 angiogenesis|negative regulation of cell-matrix adhesion|negative regulation of keratinocyte differentiation|negative regulation of leukocyte migration|negative regulation of monocyte differentiation|negative regulation of transcription from RNA polymerase II promoter sequence-specific DNA binding|transcription factor binding endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|urinary_tract(1) 16 GCGCCCAGGCCGTAGCCGGAC 0.667000 15 76 0 0 1 0 0 AHNAK2 113146 broad.mit.edu 37 14 105420226 105420226 + Nonsense_Mutation SNP G G C TCGA-HD-A6HZ-01A-12D-A31L-08 TCGA-HD-A6HZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b98da821-cf8d-4641-bd2b-f803d471428a 98833ed3-146e-475c-ab5a-2de6f2eeedbe g.chr14:105420226G>C ENST00000333244.5 - 7 1681 c.1562C>G c.(1561-1563)tCa>tGa p.S521* AHNAK2_ENST00000557457.1_5'UTR NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 521 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) ACCCGCTTTTGAGGACGCATC 0.537000 22 126 0 0 1 0 0 ZNF282 8427 broad.mit.edu 37 7 148903853 148903853 + Missense_Mutation SNP A A T TCGA-HD-A6HZ-01A-12D-A31L-08 TCGA-HD-A6HZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b98da821-cf8d-4641-bd2b-f803d471428a 98833ed3-146e-475c-ab5a-2de6f2eeedbe g.chr7:148903853A>T ENST00000262085.3 + 3 756 c.651A>T c.(649-651)gaA>gaT p.E217D ZNF282_ENST00000479907.1_Missense_Mutation_p.E217D NM_003575.2 NP_003566.1 Q9UDV7 ZN282_HUMAN zinc finger protein 282 217 KRAB. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|large_intestine(3)|lung(7)|prostate(2)|skin(1)|urinary_tract(1) 17 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00171) Lung(243;0.145) ACTTGGACGAATGGCAGAAGG 0.483000 5 131 0 0 1 0 0 IGHG2 3501 broad.mit.edu 37 14 106109690 106109690 + RNA SNP C C T TCGA-HD-A6HZ-01A-12D-A31L-08 TCGA-HD-A6HZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b98da821-cf8d-4641-bd2b-f803d471428a 98833ed3-146e-475c-ab5a-2de6f2eeedbe g.chr14:106109690C>T ENST00000390545.2 - 0 830 CGTCGGAGTCCAGCATGGGAG 0.587000 34 403 0 0 1 0 0 NKTR 4820 broad.mit.edu 37 3 42680826 42680826 + Missense_Mutation SNP G G T TCGA-HD-A6HZ-01A-12D-A31L-08 TCGA-HD-A6HZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b98da821-cf8d-4641-bd2b-f803d471428a 98833ed3-146e-475c-ab5a-2de6f2eeedbe g.chr3:42680826G>T ENST00000232978.8 + 13 3818 c.3630G>T c.(3628-3630)aaG>aaT p.K1210N RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA NM_005385.3 NP_005376.2 P30414 NKTR_HUMAN natural killer-tumor recognition sequence 1210 protein folding membrane cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 41 KIRC - Kidney renal clear cell carcinoma(284;0.24) GTACCGGGAAGAAGGAGGTGG 0.522000 9 63 1.12685e-05 1.19485e-05 1 1 0 ZSCAN16 80345 broad.mit.edu 37 6 28093443 28093443 + Silent SNP C C T TCGA-HD-A6HZ-01A-12D-A31L-08 TCGA-HD-A6HZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b98da821-cf8d-4641-bd2b-f803d471428a 98833ed3-146e-475c-ab5a-2de6f2eeedbe g.chr6:28093443C>T ENST00000340487.4 + 2 371 c.222C>T c.(220-222)tgC>tgT p.C74C RP1-265C24.9_ENST00000600652.1_RNA|RP1-265C24.9_ENST00000602810.1_RNA NM_025231.1 NP_079507.1 Q9H4T2 ZSC16_HUMAN zinc finger and SCAN domain containing 16 74 SCAN box. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding large_intestine(5)|liver(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 GGCCAGAATGCCACACCAAGG 0.547000 5 166 0 0 1 0 0 POTEE 445582 broad.mit.edu 37 2 132021794 132021794 + Silent SNP C C T TCGA-HD-A6HZ-01A-12D-A31L-08 TCGA-HD-A6HZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b98da821-cf8d-4641-bd2b-f803d471428a 98833ed3-146e-475c-ab5a-2de6f2eeedbe g.chr2:132021794C>T ENST00000356920.5 + 15 2860 c.2766C>T c.(2764-2766)gaC>gaT p.D922D PLEKHB2_ENST00000303908.3_Intron|POTEE_ENST00000358087.5_3'UTR|PLEKHB2_ENST00000404460.1_Intron NM_001083538.1 NP_001077007.1 Q6S8J3 POTEE_HUMAN POTE ankyrin domain family, member E 922 Actin-like. ATP binding TTGCCCTGGACTTCGAGCAGG 0.592000 28 302 0 0 1 0 0 OR2L13 284521 broad.mit.edu 37 1 248263052 248263052 + Missense_Mutation SNP C C G TCGA-HD-A6HZ-01A-12D-A31L-08 TCGA-HD-A6HZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b98da821-cf8d-4641-bd2b-f803d471428a 98833ed3-146e-475c-ab5a-2de6f2eeedbe g.chr1:248263052C>G ENST00000366478.2 + 3 712 c.375C>G c.(373-375)atC>atG p.I125M OR2L13_ENST00000358120.2_Missense_Mutation_p.I125M NM_175911.2 NP_787107.1 Q8N349 OR2LD_HUMAN olfactory receptor, family 2, subfamily L, member 13 125 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity|protein binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 59 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;0.0132) ATTTGGCCATCTGCCACTCTC 0.502000 5 231 0 0 1 0 0 LDB3 11155 broad.mit.edu 37 10 88459093 88459093 + Missense_Mutation SNP C C T TCGA-HD-A6HZ-01A-12D-A31L-08 TCGA-HD-A6HZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b98da821-cf8d-4641-bd2b-f803d471428a 98833ed3-146e-475c-ab5a-2de6f2eeedbe g.chr10:88459093C>T ENST00000372056.4 + 8 1182 c.1159C>T c.(1159-1161)Cat>Tat p.H387Y LDB3_ENST00000263066.6_Intron|LDB3_ENST00000458213.2_Intron|LDB3_ENST00000310944.6_Missense_Mutation_p.H319Y|LDB3_ENST00000372066.3_Missense_Mutation_p.H272Y|LDB3_ENST00000542786.1_3'UTR|LDB3_ENST00000352360.5_Intron|LDB3_ENST00000361373.4_Intron|LDB3_ENST00000429277.2_Intron NM_001171611.1 NP_001165082.1 O75112 LDB3_HUMAN LIM domain binding 3 0 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 CAACTGGCACCATGGCCTTTC 0.517000 17 99 0 0 1 0 0 SLIT2 9353 broad.mit.edu 37 4 20550730 20550730 + Missense_Mutation SNP G G T TCGA-HD-A6HZ-01A-12D-A31L-08 TCGA-HD-A6HZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b98da821-cf8d-4641-bd2b-f803d471428a 98833ed3-146e-475c-ab5a-2de6f2eeedbe g.chr4:20550730G>T ENST00000504154.1 + 24 2720 c.2468G>T c.(2467-2469)gGa>gTa p.G823V SLIT2_ENST00000503823.1_Missense_Mutation_p.G815V|SLIT2_ENST00000503837.1_Missense_Mutation_p.G819V|SLIT2_ENST00000509394.2_3'UTR|SLIT2_ENST00000273739.5_Missense_Mutation_p.G827V NM_004787.1 NP_004778.1 O94813 SLIT2_HUMAN slit homolog 2 (Drosophila) 823 apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 116 ACCTTTGATGGATTAAAGTCT 0.363000 6 19 8.12818e-05 8.4014e-05 1 1 0 KCTD13 253980 broad.mit.edu 37 16 29918258 29918258 + Missense_Mutation SNP G G A TCGA-HD-A6HZ-01A-12D-A31L-08 TCGA-HD-A6HZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b98da821-cf8d-4641-bd2b-f803d471428a 98833ed3-146e-475c-ab5a-2de6f2eeedbe g.chr16:29918258G>A ENST00000568000.1 - 6 1926 c.925C>T c.(925-927)Cat>Tat p.H309Y NM_178863.3 NP_849194.1 Q8WZ19 BACD1_HUMAN potassium channel tetramerization domain containing 13 309 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 CGCCGGACATGGATCCTGCGG 0.637000 22 92 0 0 1 0 0 USP16 10600 broad.mit.edu 37 21 30403060 30403060 + Missense_Mutation SNP C C T TCGA-HD-A6HZ-01A-12D-A31L-08 TCGA-HD-A6HZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b98da821-cf8d-4641-bd2b-f803d471428a 98833ed3-146e-475c-ab5a-2de6f2eeedbe g.chr21:30403060C>T ENST00000334352.4 + 4 437 c.206C>T c.(205-207)cCt>cTt p.P69L USP16_ENST00000399976.2_Missense_Mutation_p.P69L|USP16_ENST00000535828.1_Intron|USP16_ENST00000399975.3_Missense_Mutation_p.P69L NM_001032410.1 NP_001027582.1 Q9Y5T5 UBP16_HUMAN ubiquitin specific peptidase 16 69 cell division|histone deubiquitination|mitosis|positive regulation of transcription, DNA-dependent|protein homotetramerization|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process cytoplasm|nucleus cysteine-type endopeptidase activity|histone binding|transcription coactivator activity|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(2) 34 GAAGAAAAGCCTTCAGTTTGG 0.348000 11 74 0 0 1 0 0 PCDHB2 56133 broad.mit.edu 37 5 140474630 140474630 + Missense_Mutation SNP T T A TCGA-HD-A6HZ-01A-12D-A31L-08 TCGA-HD-A6HZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b98da821-cf8d-4641-bd2b-f803d471428a 98833ed3-146e-475c-ab5a-2de6f2eeedbe g.chr5:140474630T>A ENST00000194155.4 + 1 404 c.256T>A c.(256-258)Ttg>Atg p.L86M NM_018936.2 NP_061759.1 Q9Y5E7 PCDB2_HUMAN 86 Cadherin 1. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GACCGGGGATTTGTTGTTAAA 0.507000 19 69 0 0 1 0 0 MTMR4 9110 broad.mit.edu 37 17 56585544 56585544 + Missense_Mutation SNP G G A TCGA-HD-A6HZ-01A-12D-A31L-08 TCGA-HD-A6HZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b98da821-cf8d-4641-bd2b-f803d471428a 98833ed3-146e-475c-ab5a-2de6f2eeedbe g.chr17:56585544G>A ENST00000323456.5 - 8 767 c.643C>T c.(643-645)Cgg>Tgg p.R215W MTMR4_ENST00000579925.1_Missense_Mutation_p.R215W NM_004687.4 NP_004678.3 Q9NYA4 MTMR4_HUMAN myotubularin related protein 4 215 Myotubularin phosphatase. cytoplasm|membrane metal ion binding|protein tyrosine phosphatase activity breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5) 36 Medulloblastoma(34;0.127)|all_neural(34;0.237) ACGGGAATCCGCTTCCAGGAG 0.517000 5 52 0 0 1 0 0 EP300 2033 broad.mit.edu 37 22 41513816 41513816 + Missense_Mutation SNP G G T TCGA-HD-A6HZ-01A-12D-A31L-08 TCGA-HD-A6HZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b98da821-cf8d-4641-bd2b-f803d471428a 98833ed3-146e-475c-ab5a-2de6f2eeedbe g.chr22:41513816G>T ENST00000263253.7 + 2 1939 c.720G>T c.(718-720)caG>caT p.Q240H NM_001429.3 NP_001420.2 Q09472 EP300_HUMAN E1A binding protein p300 240 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 GAGGCCCCCAGCCTCTTAAGG 0.502000 """T, N, F, Mis, O""" """MLL, RUNXBP2""" """colorectal, breast, pancreatic, AML, ALL, DLBCL""" Rubinstein-Taybi syndrome 9 27 1.76689e-08 1.95791e-08 1 1 0 SLC18A1 6570 broad.mit.edu 37 8 20005172 20005172 + Silent SNP C C T TCGA-HD-A6HZ-01A-12D-A31L-08 TCGA-HD-A6HZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b98da821-cf8d-4641-bd2b-f803d471428a 98833ed3-146e-475c-ab5a-2de6f2eeedbe g.chr8:20005172C>T ENST00000440926.1 - 15 1742 c.1272G>A c.(1270-1272)tcG>tcA p.S424S SLC18A1_ENST00000519026.1_Silent_p.S392S|SLC18A1_ENST00000437980.1_Silent_p.S424S|SLC18A1_ENST00000276373.5_Silent_p.S424S|SLC18A1_ENST00000381608.4_Silent_p.S424S|SLC18A1_ENST00000265808.7_Silent_p.S392S NM_001135691.2 NP_001129163.1 P54219 VMAT1_HUMAN solute carrier family 18 (vesicular monoamine transporter), member 1 424 neurotransmitter transport clathrin sculpted monoamine transport vesicle membrane|integral to membrane|membrane fraction drug transmembrane transporter activity|monoamine transmembrane transporter activity central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1) 29 Colorectal(74;0.0747) TCCCATACACCGAGGTGTGGC 0.557000 6 26 0 0 1 0 0 GNB4 59345 broad.mit.edu 37 3 179138709 179138709 + Missense_Mutation SNP G G A TCGA-HD-A6HZ-01A-12D-A31L-08 TCGA-HD-A6HZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b98da821-cf8d-4641-bd2b-f803d471428a 98833ed3-146e-475c-ab5a-2de6f2eeedbe g.chr3:179138709G>A ENST00000232564.3 - 3 350 c.64C>T c.(64-66)Cgg>Tgg p.R22W GNB4_ENST00000468623.1_Missense_Mutation_p.R22W NM_021629.3 NP_067642.1 Q9HAV0 GBB4_HUMAN guanine nucleotide binding protein (G protein), beta polypeptide 4 22 cellular response to glucagon stimulus|energy reserve metabolic process plasma membrane signal transducer activity endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 16 all_cancers(143;2.01e-16)|Ovarian(172;0.0172)|Breast(254;0.191) OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.237) CATGCTTTCCGAGCATCCTGA 0.299000 5 17 0 0 1 0 0 SIK2 23235 broad.mit.edu 37 11 111594274 111594274 + Silent SNP T T C TCGA-HD-A6HZ-01A-12D-A31L-08 TCGA-HD-A6HZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b98da821-cf8d-4641-bd2b-f803d471428a 98833ed3-146e-475c-ab5a-2de6f2eeedbe g.chr11:111594274T>C ENST00000304987.3 + 15 2375 c.2202T>C c.(2200-2202)ttT>ttC p.F734F NM_015191.1 NP_056006.1 Q9H0K1 SIK2_HUMAN salt-inducible kinase 2 734 intracellular protein kinase cascade|regulation of insulin receptor signaling pathway Golgi apparatus ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3) 30 AGGCCTATTTTAATCAGATGC 0.502000 25 143 0 0 1 0 0 AHNAK2 113146 broad.mit.edu 37 14 105406038 105406038 + Silent SNP G G T TCGA-HD-A6HZ-01A-12D-A31L-08 TCGA-HD-A6HZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b98da821-cf8d-4641-bd2b-f803d471428a 98833ed3-146e-475c-ab5a-2de6f2eeedbe g.chr14:105406038G>T ENST00000333244.5 - 7 15869 c.15750C>A c.(15748-15750)ctC>ctA p.L5250L AHNAK2_ENST00000557457.1_Silent_p.L248L NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 5250 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) CTGCCTCTGGGAGCTGTAGGG 0.517000 53 282 2.47907e-22 2.87665e-22 1 1 0 ROS1 6098 broad.mit.edu 37 6 117650502 117650502 + Missense_Mutation SNP G G A TCGA-HD-A6HZ-01A-12D-A31L-08 TCGA-HD-A6HZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b98da821-cf8d-4641-bd2b-f803d471428a 98833ed3-146e-475c-ab5a-2de6f2eeedbe g.chr6:117650502G>A ENST00000368508.3 - 32 5554 c.5356C>T c.(5356-5358)Ctt>Ttt p.L1786F ROS1_ENST00000368507.3_Missense_Mutation_p.L1780F|GOPC_ENST00000467125.1_Intron NM_002944.2 NP_002935.2 P08922 ROS_HUMAN c-ros oncogene 1 , receptor tyrosine kinase 1786 Fibronectin type-III 9. transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7) NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 162 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) CTTATCTCAAGGATATAGTAT 0.308000 T """GOPC, SDC4, SLC34A2, EZR, LRIG3""" """glioblastoma, NSCLC""" 8 38 0 0 1 0 0 MKRN3 7681 broad.mit.edu 37 15 23811019 23811019 + Silent SNP G G A TCGA-HD-A6HZ-01A-12D-A31L-08 TCGA-HD-A6HZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b98da821-cf8d-4641-bd2b-f803d471428a 98833ed3-146e-475c-ab5a-2de6f2eeedbe g.chr15:23811019G>A ENST00000314520.3 + 1 566 c.90G>A c.(88-90)ccG>ccA p.P30P MKRN3_ENST00000568252.1_Silent_p.P30P|MKRN3_ENST00000564592.1_Silent_p.P30P NM_005664.3 NP_005655.1 Q13064 MKRN3_HUMAN makorin ring finger protein 3 30 ribonucleoprotein complex ligase activity|nucleic acid binding|zinc ion binding breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14) all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012) TGTCTGGGCCGGACCTTCCCG 0.672000 11 32 0 0 1 0 0 ARHGEF15 22899 broad.mit.edu 37 17 8222393 8222393 + Missense_Mutation SNP C C T TCGA-HD-A6HZ-01A-12D-A31L-08 TCGA-HD-A6HZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b98da821-cf8d-4641-bd2b-f803d471428a 98833ed3-146e-475c-ab5a-2de6f2eeedbe g.chr17:8222393C>T ENST00000361926.3 + 13 2212 c.2102C>T c.(2101-2103)cCa>cTa p.P701L ARHGEF15_ENST00000421050.1_Missense_Mutation_p.P701L|ARHGEF15_ENST00000582060.1_3'UTR NM_173728.3 NP_776089.2 O94989 ARHGF_HUMAN Rho guanine nucleotide exchange factor (GEF) 15 701 negative regulation of synapse maturation|regulation of Rho protein signal transduction dendrite|intracellular GTPase activator activity|Rho guanyl-nucleotide exchange factor activity breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1) 37 GTTCCGGATCCATCTGGACCC 0.617000 35 88 0 0 1 0 0 MED12L 116931 broad.mit.edu 37 3 151067854 151067854 + Missense_Mutation SNP C C G TCGA-HD-A6HZ-01A-12D-A31L-08 TCGA-HD-A6HZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b98da821-cf8d-4641-bd2b-f803d471428a 98833ed3-146e-475c-ab5a-2de6f2eeedbe g.chr3:151067854C>G ENST00000474524.1 + 15 2191 c.2153C>G c.(2152-2154)tCt>tGt p.S718C MED12L_ENST00000491549.1_3'UTR|P2RY12_ENST00000302632.3_Intron|MED12L_ENST00000273432.4_Missense_Mutation_p.S578C NM_053002.4 NP_443728.3 Q86YW9 MD12L_HUMAN mediator complex subunit 12-like 718 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 128 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) CAGGATGAATCTTCAAGTCAT 0.448000 70 231 0 0 1 0 0 ESRP2 80004 broad.mit.edu 37 16 68265275 68265275 + Missense_Mutation SNP C C T TCGA-HD-A6HZ-01A-12D-A31L-08 TCGA-HD-A6HZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b98da821-cf8d-4641-bd2b-f803d471428a 98833ed3-146e-475c-ab5a-2de6f2eeedbe g.chr16:68265275C>T ENST00000473183.2 - 12 2055 c.1517G>A c.(1516-1518)cGg>cAg p.R506Q ESRP2_ENST00000565858.1_Missense_Mutation_p.R516Q Q9H6T0 ESRP2_HUMAN epithelial splicing regulatory protein 2 516 RRM 3. mRNA processing|regulation of RNA splicing|RNA splicing nucleus mRNA binding|nucleotide binding NS(1)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2) 16 GCCCGATGGCCGGCCCTGTGC 0.542000 4 38 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 140990816 140990816 + Missense_Mutation SNP T T G TCGA-HD-A6HZ-01A-12D-A31L-08 TCGA-HD-A6HZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b98da821-cf8d-4641-bd2b-f803d471428a 98833ed3-146e-475c-ab5a-2de6f2eeedbe g.chr2:140990816T>G ENST00000389484.3 - 91 14710 c.13739A>C c.(13738-13740)gAt>gCt p.D4580A NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 4580 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) TTTCCTTTCATCAACACTTCC 0.318000 TSP Lung(27;0.18) 6 21 0 0 1 0 0 DGKK 139189 broad.mit.edu 37 X 50213406 50213406 + RNA SNP G G C TCGA-HD-A6HZ-01A-12D-A31L-08 TCGA-HD-A6HZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b98da821-cf8d-4641-bd2b-f803d471428a 98833ed3-146e-475c-ab5a-2de6f2eeedbe g.chrX:50213406G>C ENST00000376025.2 - 0 331 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) ggccggttctgaggccggctc 0.647000 54 215 0 0 1 0 0 EDAR 10913 broad.mit.edu 37 2 109539885 109539885 + Silent SNP C C G TCGA-HD-A6HZ-01A-12D-A31L-08 TCGA-HD-A6HZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b98da821-cf8d-4641-bd2b-f803d471428a 98833ed3-146e-475c-ab5a-2de6f2eeedbe g.chr2:109539885C>G ENST00000409271.1 - 6 824 c.381G>C c.(379-381)ccG>ccC p.P127P EDAR_ENST00000376651.1_Silent_p.P127P|EDAR_ENST00000258443.2_Silent_p.P127P Q9UNE0 EDAR_HUMAN ectodysplasin A receptor 127 apoptosis|cell differentiation integral to membrane protein binding|transmembrane receptor activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1) 16 AGATGTTCCTCGGTCTGTTCT 0.547000 8 114 0 0 1 0 0 SLC5A7 60482 broad.mit.edu 37 2 108627019 108627019 + Missense_Mutation SNP T T A TCGA-HD-A6HZ-01A-12D-A31L-08 TCGA-HD-A6HZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b98da821-cf8d-4641-bd2b-f803d471428a 98833ed3-146e-475c-ab5a-2de6f2eeedbe g.chr2:108627019T>A ENST00000264047.2 + 9 1721 c.1445T>A c.(1444-1446)cTt>cAt p.L482H SLC5A7_ENST00000540517.1_Missense_Mutation_p.L377H|SLC5A7_ENST00000409059.1_Missense_Mutation_p.L482H NM_021815.2 NP_068587.1 Q9GZV3 SC5A7_HUMAN solute carrier family 5 (sodium/choline cotransporter), member 7 482 acetylcholine biosynthetic process|neurotransmitter secretion integral to membrane|plasma membrane choline:sodium symporter activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Choline(DB00122) TTTAAAACACTTGCCATGGTT 0.373000 6 69 0 0 1 0 0 IGSF21 84966 broad.mit.edu 37 1 18554484 18554484 + Missense_Mutation SNP C C T TCGA-HD-A6HZ-01A-12D-A31L-08 TCGA-HD-A6HZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b98da821-cf8d-4641-bd2b-f803d471428a 98833ed3-146e-475c-ab5a-2de6f2eeedbe g.chr1:18554484C>T ENST00000251296.1 + 2 546 c.163C>T c.(163-165)Cgg>Tgg p.R55W NM_032880.4 NP_116269.3 Q96ID5 IGS21_HUMAN immunoglobin superfamily, member 21 55 Ig-like 1. extracellular region p.R55W(1) endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 40 Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157) TGGGCGCATGCGGGAGATCGT 0.572000 9 62 0 0 1 0 0 C2orf61 285051 broad.mit.edu 37 2 47378589 47378589 + Silent SNP C C T TCGA-HD-A6HZ-01A-12D-A31L-08 TCGA-HD-A6HZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b98da821-cf8d-4641-bd2b-f803d471428a 98833ed3-146e-475c-ab5a-2de6f2eeedbe g.chr2:47378589C>T ENST00000294947.2 - 3 242 c.207G>A c.(205-207)gtG>gtA p.V69V C2orf61_ENST00000445927.2_Silent_p.V69V|CALM2_ENST00000422269.1_5'UTR NM_173649.2 NP_775920.1 Q8N801 CB061_HUMAN chromosome 2 open reading frame 61 69 p.0?(2) endometrium(1)|kidney(1)|lung(2) 4 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114) AGGTTGCTATCACTGGATTTA 0.373000 36 94 0 0 1 0 0 AHNAK2 113146 broad.mit.edu 37 14 105410723 105410723 + Nonsense_Mutation SNP G G A TCGA-HD-A6HZ-01A-12D-A31L-08 TCGA-HD-A6HZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b98da821-cf8d-4641-bd2b-f803d471428a 98833ed3-146e-475c-ab5a-2de6f2eeedbe g.chr14:105410723G>A ENST00000333244.5 - 7 11184 c.11065C>T c.(11065-11067)Cag>Tag p.Q3689* AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 3689 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) GAAGGGGGCTGAATGCTGAGG 0.642000 30 264 0 0 1 0 0 SMG8 55181 broad.mit.edu 37 17 57288115 57288115 + Nonsense_Mutation SNP C C T TCGA-HD-A6HZ-01A-12D-A31L-08 TCGA-HD-A6HZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b98da821-cf8d-4641-bd2b-f803d471428a 98833ed3-146e-475c-ab5a-2de6f2eeedbe g.chr17:57288115C>T ENST00000543872.2 + 2 967 c.703C>T c.(703-705)Cag>Tag p.Q235* CTD-2510F5.6_ENST00000577660.1_Intron|SMG8_ENST00000300917.5_Nonsense_Mutation_p.Q235*|SMG8_ENST00000578922.1_Nonsense_Mutation_p.Q235*|SMG8_ENST00000580498.1_Intron Q8ND04 SMG8_HUMAN SMG8 nonsense mediated mRNA decay factor 235 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity protein binding NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1) 33 TGGGCTGAGACAGAAGGTCCT 0.473000 7 61 0 0 1 0 0 PDK4 5166 broad.mit.edu 37 7 95218960 95218960 + Missense_Mutation SNP G G T TCGA-HD-A6HZ-01A-12D-A31L-08 TCGA-HD-A6HZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b98da821-cf8d-4641-bd2b-f803d471428a 98833ed3-146e-475c-ab5a-2de6f2eeedbe g.chr7:95218960G>T ENST00000005178.5 - 7 960 c.763C>A c.(763-765)Cta>Ata p.L255I NM_002612.3 NP_002603.1 Q16654 PDK4_HUMAN pyruvate dehydrogenase kinase, isozyme 4 255 Histidine kinase. glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 15 all_cancers(62;1.06e-10)|all_epithelial(64;1.04e-09)|Lung NSC(181;0.128)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0151) ACCTTAAATAGTTCAAAGAGC 0.284000 4 103 0.014758 0.014879 1 1 0 UBR7 55148 broad.mit.edu 37 14 93685022 93685022 + Missense_Mutation SNP G G A TCGA-HD-A6HZ-01A-12D-A31L-08 TCGA-HD-A6HZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b98da821-cf8d-4641-bd2b-f803d471428a 98833ed3-146e-475c-ab5a-2de6f2eeedbe g.chr14:93685022G>A ENST00000013070.6 + 7 987 c.751G>A c.(751-753)Gtt>Att p.V251I UBR7_ENST00000416753.1_Missense_Mutation_p.V175I NM_175748.3 NP_786924.2 Q8N806 UBR7_HUMAN ubiquitin protein ligase E3 component n-recognin 7 (putative) 251 ubiquitin-protein ligase activity|zinc ion binding breast(2)|endometrium(2)|large_intestine(2)|lung(12)|urinary_tract(1) 19 TGTCCGGGAGGTTAAAGTAGA 0.448000 19 64 0 0 1 0 0 GRIP1 23426 broad.mit.edu 37 12 66935717 66935717 + Silent SNP G G A TCGA-HD-A6HZ-01A-12D-A31L-08 TCGA-HD-A6HZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b98da821-cf8d-4641-bd2b-f803d471428a 98833ed3-146e-475c-ab5a-2de6f2eeedbe g.chr12:66935717G>A ENST00000359742.4 - 3 390 c.150C>T c.(148-150)ggC>ggT p.G50G GRIP1_ENST00000398016.3_Silent_p.G50G|GRIP1_ENST00000286445.7_Silent_p.G50G Q9Y3R0 GRIP1_HUMAN glutamate receptor interacting protein 1 50 androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1) 50 GBM - Glioblastoma multiforme(2;0.00069) GBM - Glioblastoma multiforme(28;0.0933) CGACTGTGGAGCCCTTGAATT 0.438000 32 624 0 0 1 0 0 EPS15 2060 broad.mit.edu 37 1 51829572 51829572 + Silent SNP G G A TCGA-HD-A6HZ-01A-12D-A31L-08 TCGA-HD-A6HZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b98da821-cf8d-4641-bd2b-f803d471428a 98833ed3-146e-475c-ab5a-2de6f2eeedbe g.chr1:51829572G>A ENST00000371733.3 - 23 2421 c.2325C>T c.(2323-2325)atC>atT p.I775I EPS15_ENST00000396122.4_Silent_p.I452I|EPS15_ENST00000371730.2_Silent_p.I641I NM_001981.2 NP_001972.1 P42566 EPS15_HUMAN epidermal growth factor receptor pathway substrate 15 775 15 X 3 AA repeats of D-P-F.|Pro-rich. cell proliferation|clathrin coat assembly|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport cytosol|early endosome membrane calcium ion binding|SH3 domain binding p.0?(2) endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2) 35 TTGGAGTTCCGATCTTTGGTG 0.453000 T MLL ALL 11 50 0 0 1 0 0 COL27A1 85301 broad.mit.edu 37 9 117005797 117005797 + Missense_Mutation SNP G G A TCGA-HD-A6HZ-01A-12D-A31L-08 TCGA-HD-A6HZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b98da821-cf8d-4641-bd2b-f803d471428a 98833ed3-146e-475c-ab5a-2de6f2eeedbe g.chr9:117005797G>A ENST00000356083.3 + 23 3282 c.2891G>A c.(2890-2892)gGc>gAc p.G964D NM_032888.2 NP_116277.2 Q8IZC6 CORA1_HUMAN collagen, type XXVII, alpha 1 964 Collagen-like 6.|Pro-rich.|Triple-helical region. cell adhesion extracellular matrix structural constituent central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3) 80 GGTCAGCCTGGCAGGAAGGGG 0.622000 16 23 0 0 1 0 0 KREMEN2 79412 broad.mit.edu 37 16 3016751 3016751 + Missense_Mutation SNP C C T TCGA-HD-A6HZ-01A-12D-A31L-08 TCGA-HD-A6HZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b98da821-cf8d-4641-bd2b-f803d471428a 98833ed3-146e-475c-ab5a-2de6f2eeedbe g.chr16:3016751C>T ENST00000572045.1 + 5 900 c.595C>T c.(595-597)Cct>Tct p.P199S KREMEN2_ENST00000575769.1_Missense_Mutation_p.P199S|KREMEN2_ENST00000575885.1_Intron|KREMEN2_ENST00000571007.1_Intron|KREMEN2_ENST00000319500.6_Missense_Mutation_p.P199S|KREMEN2_ENST00000303746.5_Missense_Mutation_p.P199S NM_172229.2 NP_757384.1 Q8NCW0 KREM2_HUMAN kringle containing transmembrane protein 2 199 WSC. Missing (in Ref. 2; BAC11365). Wnt receptor signaling pathway integral to membrane central_nervous_system(2)|endometrium(1)|large_intestine(1) 4 TTTCGGCCACCCTGGACAGCT 0.711000 7 25 0 0 1 0 0 SEC16A 9919 broad.mit.edu 37 9 139355672 139355672 + Missense_Mutation SNP C C T TCGA-HD-A6HZ-01A-12D-A31L-08 TCGA-HD-A6HZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b98da821-cf8d-4641-bd2b-f803d471428a 98833ed3-146e-475c-ab5a-2de6f2eeedbe g.chr9:139355672C>T ENST00000313050.7 - 11 5021 c.4948G>A c.(4948-4950)Gca>Aca p.A1650T SEC16A_ENST00000371706.3_Missense_Mutation_p.A1472T|SEC16A_ENST00000431893.2_Missense_Mutation_p.A1472T|SEC16A_ENST00000290037.6_Missense_Mutation_p.A1472T NM_014866.1 NP_055681.1 O15027 SC16A_HUMAN SEC16 homolog A (S. cerevisiae) 1472 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) ATCTTACTTGCAAGTAGCAGA 0.592000 5 9 0 0 1 0 0 KIAA1109 84162 broad.mit.edu 37 4 123227048 123227048 + Missense_Mutation SNP G G T TCGA-HD-A6HZ-01A-12D-A31L-08 TCGA-HD-A6HZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b98da821-cf8d-4641-bd2b-f803d471428a 98833ed3-146e-475c-ab5a-2de6f2eeedbe g.chr4:123227048G>T ENST00000264501.4 + 57 10062 c.9689G>T c.(9688-9690)gGt>gTt p.G3230V KIAA1109_ENST00000388738.3_Missense_Mutation_p.G3230V|KIAA1109_ENST00000455637.1_Missense_Mutation_p.G3230V Q2LD37 K1109_HUMAN KIAA1109 3230 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3) 172 GAGGAAGCTGGTTCTGATTTT 0.299000 4 27 0.00024832 0.000254528 1 1 0 BMS1P20 96610 broad.mit.edu 37 22 22664606 22664606 + RNA SNP A A G TCGA-HD-A6HZ-01A-12D-A31L-08 TCGA-HD-A6HZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b98da821-cf8d-4641-bd2b-f803d471428a 98833ed3-146e-475c-ab5a-2de6f2eeedbe g.chr22:22664606A>G ENST00000426066.1 + 0 787 NR_027293.1 GTCTTCATGCAAACTTGGTAT 0.398000 3 18 0 0 1 0 0 RECQL4 9401 broad.mit.edu 37 8 145737553 145737553 + Silent SNP C C T TCGA-HD-A6HZ-01A-12D-A31L-08 TCGA-HD-A6HZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b98da821-cf8d-4641-bd2b-f803d471428a 98833ed3-146e-475c-ab5a-2de6f2eeedbe g.chr8:145737553C>T ENST00000428558.2 - 19 3251 c.3210G>A c.(3208-3210)ctG>ctA p.L1070L RECQL4_ENST00000532237.1_5'UTR NM_004260.3 NP_004251.3 O94761 RECQ4_HUMAN RecQ protein-like 4 1070 DNA duplex unwinding|DNA recombination|DNA repair cytoplasm|nucleus ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 26 all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055) AGGTTCTGCGCAGACGGGCCA 0.667000 """N, F, S""" """osteosarcoma, skin basal and sqamous cell""" Genes defective in diseases associated with sensitivity to DNA damaging agents Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome 3 25 0 0 1 0 0 HMGXB4 10042 broad.mit.edu 37 22 35683435 35683435 + Missense_Mutation SNP G G C TCGA-HD-A6HZ-01A-12D-A31L-08 TCGA-HD-A6HZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b98da821-cf8d-4641-bd2b-f803d471428a 98833ed3-146e-475c-ab5a-2de6f2eeedbe g.chr22:35683435G>C ENST00000216106.5 + 8 1586 c.1458G>C c.(1456-1458)atG>atC p.M486I HMGXB4_ENST00000444518.2_Missense_Mutation_p.M377I NM_001003681.2 NP_001003681.1 Q9UGU5 HMGX4_HUMAN HMG box domain containing 4 486 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 AAGGTTCCATGAAAGTCAAAG 0.433000 7 22 0 0 1 0 0 GPR39 2863 broad.mit.edu 37 2 133403121 133403121 + Nonsense_Mutation SNP C C G TCGA-HD-A6HZ-01A-12D-A31L-08 TCGA-HD-A6HZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b98da821-cf8d-4641-bd2b-f803d471428a 98833ed3-146e-475c-ab5a-2de6f2eeedbe g.chr2:133403121C>G ENST00000329321.3 + 2 1773 c.1304C>G c.(1303-1305)tCa>tGa p.S435* LYPD1_ENST00000397463.2_3'UTR|GPR39_ENST00000470071.1_3'UTR NM_001508.2 NP_001499.1 O43194 GPR39_HUMAN G protein-coupled receptor 39 435 integral to plasma membrane G-protein coupled receptor activity|metal ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 GAGCCCAACTCAGGCGCGAAA 0.522000 4 69 0 0 1 0 0 GRIA2 2891 broad.mit.edu 37 4 158284159 158284159 + Missense_Mutation SNP G G A TCGA-HD-A6HZ-01A-12D-A31L-08 TCGA-HD-A6HZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b98da821-cf8d-4641-bd2b-f803d471428a 98833ed3-146e-475c-ab5a-2de6f2eeedbe g.chr4:158284159G>A ENST00000296526.7 + 15 2940 c.2615G>A c.(2614-2616)gGt>gAt p.G872D GRIA2_ENST00000264426.9_Missense_Mutation_p.G872D|GRIA2_ENST00000449365.1_Missense_Mutation_p.G825D|GRIA2_ENST00000393815.2_Missense_Mutation_p.G825D|GRIA2_ENST00000507898.1_Missense_Mutation_p.G825D NM_000826.3 NP_000817.2 P42262 GRIA2_HUMAN glutamate receptor, ionotropic, AMPA 2 872 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 79 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.0294) L-Glutamic Acid(DB00142) TATAAGGAAGGTTACAACGTA 0.413000 7 99 0 0 1 0 0 AHNAK2 113146 broad.mit.edu 37 14 105413482 105413482 + Missense_Mutation SNP G G A TCGA-HD-A6HZ-01A-12D-A31L-08 TCGA-HD-A6HZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b98da821-cf8d-4641-bd2b-f803d471428a 98833ed3-146e-475c-ab5a-2de6f2eeedbe g.chr14:105413482G>A ENST00000333244.5 - 7 8425 c.8306C>T c.(8305-8307)gCc>gTc p.A2769V AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 2769 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) CACATCGGGGGCTGTCACTTC 0.617000 33 251 0 0 1 0 0 LINC00969 440993 broad.mit.edu 37 3 195395399 195395399 + RNA SNP G G A rs62287990 by1000genomes TCGA-HD-A6HZ-01A-12D-A31L-08 TCGA-HD-A6HZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b98da821-cf8d-4641-bd2b-f803d471428a 98833ed3-146e-475c-ab5a-2de6f2eeedbe g.chr3:195395399G>A ENST00000445430.1 + 0 806 GGCTACGGGCGCACCTACTTG 0.607000 4 81 0 0 1 0 0 AHNAK2 113146 broad.mit.edu 37 14 105414045 105414045 + Silent SNP G G A TCGA-HD-A6HZ-01A-12D-A31L-08 TCGA-HD-A6HZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b98da821-cf8d-4641-bd2b-f803d471428a 98833ed3-146e-475c-ab5a-2de6f2eeedbe g.chr14:105414045G>A ENST00000333244.5 - 7 7862 c.7743C>T c.(7741-7743)ctC>ctT p.L2581L AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 2581 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) GGGGGCCCTTGAGGTCCATTT 0.617000 37 271 0 0 1 0 0 OR2T27 403239 broad.mit.edu 37 1 248813331 248813331 + Silent SNP G G C TCGA-HD-A6HZ-01A-12D-A31L-08 TCGA-HD-A6HZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b98da821-cf8d-4641-bd2b-f803d471428a 98833ed3-146e-475c-ab5a-2de6f2eeedbe g.chr1:248813331G>C ENST00000344889.3 - 1 854 c.855C>G c.(853-855)ctC>ctG p.L285L NM_001001824.1 NP_001001824.1 Q8NH04 O2T27_HUMAN olfactory receptor, family 2, subfamily T, member 27 285 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L285L(1) breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1) 32 all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199) all_cancers(173;0.237) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TGAGTGGATTGAGCATGGGAG 0.502000 12 48 0 0 1 0 0 RBM23 55147 broad.mit.edu 37 14 23374209 23374209 + Nonsense_Mutation SNP G G A TCGA-HD-A6HZ-01A-12D-A31L-08 TCGA-HD-A6HZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b98da821-cf8d-4641-bd2b-f803d471428a 98833ed3-146e-475c-ab5a-2de6f2eeedbe g.chr14:23374209G>A ENST00000359890.3 - 9 934 c.739C>T c.(739-741)Cga>Tga p.R247* RBM23_ENST00000542016.2_Nonsense_Mutation_p.R77*|RBM23_ENST00000399922.2_Nonsense_Mutation_p.R231*|RBM23_ENST00000346528.5_Nonsense_Mutation_p.R213*|RBM23_ENST00000555209.1_5'UTR NM_001077351.1 NP_001070819.1 Q86U06 RBM23_HUMAN RNA binding motif protein 23 247 mRNA processing nucleus nucleotide binding|RNA binding endometrium(3)|kidney(2)|lung(3)|prostate(1)|skin(1) 10 all_cancers(95;4.69e-05) GBM - Glioblastoma multiforme(265;0.0128) GCTGCCAGTCGGTTTTTCTCT 0.512000 22 137 0 0 1 0 0 AHNAK2 113146 broad.mit.edu 37 14 105419160 105419160 + Silent SNP G G A TCGA-HD-A6HZ-01A-12D-A31L-08 TCGA-HD-A6HZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b98da821-cf8d-4641-bd2b-f803d471428a 98833ed3-146e-475c-ab5a-2de6f2eeedbe g.chr14:105419160G>A ENST00000333244.5 - 7 2747 c.2628C>T c.(2626-2628)ctC>ctT p.L876L AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 876 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) CAGTGGCCTTGAGGTCCCCCT 0.657000 38 266 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82538324 82538324 + Missense_Mutation SNP G G A TCGA-HD-A6HZ-01A-12D-A31L-08 TCGA-HD-A6HZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b98da821-cf8d-4641-bd2b-f803d471428a 98833ed3-146e-475c-ab5a-2de6f2eeedbe g.chr7:82538324G>A ENST00000423517.2 - 8 13643 c.13306C>T c.(13306-13308)Cat>Tat p.H4436Y PCLO_ENST00000333891.8_Missense_Mutation_p.H4436Y NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 4367 PDZ. 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 CGACGCAGATGATAGGCTTTG 0.458000 4 40 0 0 1 0 0 OR10H3 26532 broad.mit.edu 37 19 15852274 15852274 + Silent SNP C C G TCGA-HD-A6HZ-01A-12D-A31L-08 TCGA-HD-A6HZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b98da821-cf8d-4641-bd2b-f803d471428a 98833ed3-146e-475c-ab5a-2de6f2eeedbe g.chr19:15852274C>G ENST00000305892.1 + 1 72 c.72C>G c.(70-72)ctC>ctG p.L24L NM_013938.1 NP_039226.1 O60404 O10H3_HUMAN olfactory receptor, family 10, subfamily H, member 3 24 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 CCCAGCAGCTCCTGCCTGTCT 0.483000 4 180 0 0 1 0 0 KAT2A 2648 broad.mit.edu 37 17 40269510 40269510 + Silent SNP C C T TCGA-HD-A6HZ-01A-12D-A31L-08 TCGA-HD-A6HZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b98da821-cf8d-4641-bd2b-f803d471428a 98833ed3-146e-475c-ab5a-2de6f2eeedbe g.chr17:40269510C>T ENST00000225916.5 - 10 1586 c.1533G>A c.(1531-1533)aaG>aaA p.K511K NM_021078.2 NP_066564.2 Q92830 KAT2A_HUMAN K(lysine) acetyltransferase 2A 511 N-acetyltransferase. chromatin remodeling|histone deubiquitination|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex H3 histone acetyltransferase activity|histone deacetylase binding|protein binding|transcription coactivator activity central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 18 GCCGGTTGGCCTTGGGCGTCA 0.637000 8 41 0 0 1 0 0 SLC26A3 1811 broad.mit.edu 37 7 107412532 107412532 + Missense_Mutation SNP T T A TCGA-HD-A6HZ-01A-12D-A31L-08 TCGA-HD-A6HZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b98da821-cf8d-4641-bd2b-f803d471428a 98833ed3-146e-475c-ab5a-2de6f2eeedbe g.chr7:107412532T>A ENST00000340010.5 - 18 2213 c.2029A>T c.(2029-2031)Atc>Ttc p.I677F SLC26A3_ENST00000422236.2_Missense_Mutation_p.I564F NM_000111.2 NP_000102.1 P40879 S26A3_HUMAN solute carrier family 26 (anion exchanger), member 3 677 STAS. 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 TCTACCTTGATCCTGATAAAT 0.333000 11 19 0 0 1 0 0 SGK2 10110 broad.mit.edu 37 20 42199306 42199306 + Missense_Mutation SNP G G A TCGA-HD-A6HZ-01A-12D-A31L-08 TCGA-HD-A6HZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b98da821-cf8d-4641-bd2b-f803d471428a 98833ed3-146e-475c-ab5a-2de6f2eeedbe g.chr20:42199306G>A ENST00000373100.1 + 8 870 c.410G>A c.(409-411)aGg>aAg p.R137K SGK2_ENST00000341458.4_Missense_Mutation_p.R197K|SGK2_ENST00000423407.3_Missense_Mutation_p.R137K|SGK2_ENST00000373077.1_Missense_Mutation_p.R136K|SGK2_ENST00000485914.1_3'UTR|SGK2_ENST00000426287.1_Missense_Mutation_p.R163K|SGK2_ENST00000373092.3_Missense_Mutation_p.R137K Q9HBY8 SGK2_HUMAN serum/glucocorticoid regulated kinase 2 197 Protein kinase. Missing (in Ref. 4; CAI42315). intracellular protein kinase cascade|response to oxidative stress ATP binding|potassium channel regulator activity|protein serine/threonine kinase activity|sodium channel regulator activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.0031) CCCCGGGCCAGGTTCTACGCT 0.632000 8 92 0 0 1 0 0 CD93 22918 broad.mit.edu 37 20 23065128 23065128 + Missense_Mutation SNP C C T TCGA-HD-A6HZ-01A-12D-A31L-08 TCGA-HD-A6HZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b98da821-cf8d-4641-bd2b-f803d471428a 98833ed3-146e-475c-ab5a-2de6f2eeedbe g.chr20:23065128C>T ENST00000246006.4 - 1 1849 c.1702G>A c.(1702-1704)Gtg>Atg p.V568M NM_012072.3 NP_036204.2 Q9NPY3 C1QR1_HUMAN CD93 molecule 568 cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis plasma membrane calcium ion binding|complement component C1q binding|receptor activity|sugar binding NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118) TGTGTGGCCACGGAGGAGTCC 0.637000 6 118 0 0 1 0 0 DCHS2 54798 broad.mit.edu 37 4 155254036 155254036 + Silent SNP C C T TCGA-HD-A6HZ-01A-12D-A31L-08 TCGA-HD-A6HZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b98da821-cf8d-4641-bd2b-f803d471428a 98833ed3-146e-475c-ab5a-2de6f2eeedbe g.chr4:155254036C>T ENST00000357232.3 - 9 1826 c.1827G>A c.(1825-1827)gcG>gcA p.A609A DCHS2_ENST00000339452.1_Silent_p.A1108A NM_017639.3 NP_060109.2 Q6V1P9 PCD23_HUMAN dachsous cadherin-related 2 609 Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 176 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) CAAGTGGGTGCGCCTGTGTTT 0.552000 5 41 0 0 1 0 0 HRG 3273 broad.mit.edu 37 3 186392952 186392952 + Silent SNP C C G TCGA-HD-A6HZ-01A-12D-A31L-08 TCGA-HD-A6HZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b98da821-cf8d-4641-bd2b-f803d471428a 98833ed3-146e-475c-ab5a-2de6f2eeedbe g.chr3:186392952C>G ENST00000232003.4 + 6 794 c.714C>G c.(712-714)gtC>gtG p.V238V NM_000412.2 NP_000403.1 P04196 HRG_HUMAN histidine-rich glycoprotein 238 Cystatin 2. fibrinolysis|platelet activation|platelet degranulation extracellular region|plasma membrane|platelet alpha granule lumen cysteine-type endopeptidase inhibitor activity|heparin binding breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_cancers(143;6.64e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.73e-20) GBM - Glioblastoma multiforme(93;0.0683) AAAACCTTGTCATAAACTGTG 0.438000 4 281 0 0 1 0 0 HSPG2 3339 broad.mit.edu 37 1 22216609 22216609 + Nonsense_Mutation SNP C C A TCGA-HD-A6HZ-01A-12D-A31L-08 TCGA-HD-A6HZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b98da821-cf8d-4641-bd2b-f803d471428a 98833ed3-146e-475c-ab5a-2de6f2eeedbe g.chr1:22216609C>A ENST00000374695.3 - 6 518 c.439G>T c.(439-441)Gag>Tag p.E147* NM_005529.5 NP_005520.4 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 147 SEA. 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) ACATCCAGCTCCACAAAAACC 0.617000 24 147 7.38237e-10 8.25483e-10 1 1 0 TTN 7273 broad.mit.edu 37 2 179422111 179422111 + Missense_Mutation SNP C C T TCGA-HD-A6HZ-01A-12D-A31L-08 TCGA-HD-A6HZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b98da821-cf8d-4641-bd2b-f803d471428a 98833ed3-146e-475c-ab5a-2de6f2eeedbe g.chr2:179422111C>T ENST00000589042.1 - 329 88102 c.87878G>A c.(87877-87879)cGc>cAc p.R29293H TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R27652H|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R26725H|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R20420H|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R20228H|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R20353H NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 27652 Ig-like 134. 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) GTGAGTTGTGCGGATGACCAG 0.433000 15 73 0 0 1 0 0 NDRG2 57447 broad.mit.edu 37 14 21490276 21490276 + Missense_Mutation SNP G G A TCGA-HD-A6HZ-01A-12D-A31L-08 TCGA-HD-A6HZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b98da821-cf8d-4641-bd2b-f803d471428a 98833ed3-146e-475c-ab5a-2de6f2eeedbe g.chr14:21490276G>A ENST00000556147.1 - 5 1229 c.289C>T c.(289-291)Cgg>Tgg p.R97W NDRG2_ENST00000403829.3_Missense_Mutation_p.R93W|NDRG2_ENST00000397847.2_Missense_Mutation_p.R97W|NDRG2_ENST00000555158.1_Missense_Mutation_p.R83W|NDRG2_ENST00000397851.2_Missense_Mutation_p.R97W|NDRG2_ENST00000554104.1_Missense_Mutation_p.R10W|NDRG2_ENST00000397853.3_Missense_Mutation_p.R97W|NDRG2_ENST00000553503.1_Missense_Mutation_p.R83W|NDRG2_ENST00000298684.5_Missense_Mutation_p.R83W|NDRG2_ENST00000397844.2_Missense_Mutation_p.R83W|NDRG2_ENST00000397856.3_Missense_Mutation_p.R83W|NDRG2_ENST00000397855.3_Missense_Mutation_p.R83W|NDRG2_ENST00000350792.3_Missense_Mutation_p.R83W|NDRG2_ENST00000397858.1_Missense_Mutation_p.R97W|NDRG2_ENST00000298687.5_Missense_Mutation_p.R97W|NDRG2_ENST00000554143.1_Missense_Mutation_p.R83W|NDRG2_ENST00000360463.3_Missense_Mutation_p.R83W Q9UN36 NDRG2_HUMAN NDRG family member 2 97 cell differentiation|nervous system development centrosome|cytosol|Golgi apparatus|nucleus|perinuclear region of cytoplasm breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 23 all_cancers(95;0.00185) OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08) GBM - Glioblastoma multiforme(265;0.0191) ACATGAACCCGCACAAAGTTC 0.483000 4 147 0 0 1 0 0 NDST3 9348 broad.mit.edu 37 4 119059244 119059244 + Silent SNP G G T TCGA-HD-A6HZ-01A-12D-A31L-08 TCGA-HD-A6HZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b98da821-cf8d-4641-bd2b-f803d471428a 98833ed3-146e-475c-ab5a-2de6f2eeedbe g.chr4:119059244G>T ENST00000296499.5 + 5 1663 c.1260G>T c.(1258-1260)gtG>gtT p.V420V NDST3_ENST00000433996.2_Silent_p.V339V NM_004784.2 NP_004775.1 O95803 NDST3_HUMAN N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3 420 Heparan sulfate N-deacetylase 3. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 54 GCTACGCTGTGGCCCCTCACC 0.453000 9 57 6.40141e-05 6.67266e-05 1 1 0 TLR9 54106 broad.mit.edu 37 3 52255722 52255722 + Nonsense_Mutation SNP G G A TCGA-HD-A6HZ-01A-12D-A31L-08 TCGA-HD-A6HZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b98da821-cf8d-4641-bd2b-f803d471428a 98833ed3-146e-475c-ab5a-2de6f2eeedbe g.chr3:52255722G>A ENST00000494383.1 - 5 3069 c.3070C>T c.(3070-3072)Cga>Tga p.R1024* TLR9_ENST00000360658.2_Silent_p.Y870Y|TLR9_ENST00000597542.1_Silent_p.Y894Y Q9NR96 TLR9_HUMAN toll-like receptor 9 0 defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|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-10 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 JUN kinase activity|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|response to molecule of bacterial origin apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 30 BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) Chloroquine(DB00608) CGAAGGCATCGTAGGGCAGGG 0.652000 48 73 0 0 1 0 0 SUPT20H 55578 broad.mit.edu 37 13 37605971 37605971 + Missense_Mutation SNP G G A TCGA-HD-A6HZ-01A-12D-A31L-08 TCGA-HD-A6HZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b98da821-cf8d-4641-bd2b-f803d471428a 98833ed3-146e-475c-ab5a-2de6f2eeedbe g.chr13:37605971G>A ENST00000360252.4 - 11 1019 c.772C>T c.(772-774)Cct>Tct p.P258S SUPT20H_ENST00000475892.1_Missense_Mutation_p.P257S|SUPT20H_ENST00000350612.6_Missense_Mutation_p.P257S|SUPT20H_ENST00000356185.3_Missense_Mutation_p.P258S|SUPT20H_ENST00000464744.1_Missense_Mutation_p.P258S|SUPT20H_ENST00000542180.1_Missense_Mutation_p.P245S 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) TGAGGAGGAGGTGGACAATGA 0.378000 13 40 0 0 1 0 0 FN1 2335 broad.mit.edu 37 2 216288916 216288916 + Nonsense_Mutation SNP G G T TCGA-HD-A6HZ-01A-12D-A31L-08 TCGA-HD-A6HZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b98da821-cf8d-4641-bd2b-f803d471428a 98833ed3-146e-475c-ab5a-2de6f2eeedbe g.chr2:216288916G>T ENST00000354785.4 - 8 1538 c.1169C>A c.(1168-1170)tCg>tAg p.S390* FN1_ENST00000346544.3_Nonsense_Mutation_p.S390*|FN1_ENST00000323926.6_Nonsense_Mutation_p.S390*|FN1_ENST00000345488.5_Nonsense_Mutation_p.S390*|FN1_ENST00000336916.4_Nonsense_Mutation_p.S390*|FN1_ENST00000443816.1_Nonsense_Mutation_p.S390*|FN1_ENST00000426059.1_Nonsense_Mutation_p.S390*|FN1_ENST00000432072.2_Nonsense_Mutation_p.S390*|FN1_ENST00000446046.1_Nonsense_Mutation_p.S390*|FN1_ENST00000421182.1_Nonsense_Mutation_p.S390*|FN1_ENST00000356005.4_Nonsense_Mutation_p.S390*|FN1_ENST00000359671.1_Nonsense_Mutation_p.S390*|FN1_ENST00000357867.4_Nonsense_Mutation_p.S390*|FN1_ENST00000357009.2_Nonsense_Mutation_p.S390* P02751 FINC_HUMAN fibronectin 1 390 Collagen-binding.|Fibronectin type-II 1. acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix collagen binding|extracellular matrix structural constituent|heparin binding FN1/ALK(2) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 109 Renal(323;0.127) Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CTCATAATTCGAAGTTGTGCT 0.512000 20 106 8.10497e-08 8.901e-08 1 1 0 PROCA1 147011 broad.mit.edu 37 17 27031353 27031353 + Missense_Mutation SNP C C T TCGA-HD-A6HZ-01A-12D-A31L-08 TCGA-HD-A6HZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b98da821-cf8d-4641-bd2b-f803d471428a 98833ed3-146e-475c-ab5a-2de6f2eeedbe g.chr17:27031353C>T ENST00000301039.2 - 3 521 c.328G>A c.(328-330)Gag>Aag p.E110K PROCA1_ENST00000439862.3_Missense_Mutation_p.E112K|PROCA1_ENST00000581289.1_Intron|PROCA1_ENST00000579650.1_5'UTR NM_152465.1 NP_689678.1 Q8NCQ7 PRCA1_HUMAN protein interacting with cyclin A1 138 lipid catabolic process calcium ion binding|phospholipase A2 activity breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(4)|ovary(1)|urinary_tract(1) 16 Lung NSC(42;0.00431) TCCACATGCTCCTCCTCCGGT 0.627000 14 262 0 0 1 0 0 ARHGEF6 9459 broad.mit.edu 37 X 135862940 135862940 + Silent SNP C C T TCGA-HD-A6HZ-01A-12D-A31L-08 TCGA-HD-A6HZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b98da821-cf8d-4641-bd2b-f803d471428a 98833ed3-146e-475c-ab5a-2de6f2eeedbe g.chrX:135862940C>T ENST00000250617.6 - 1 1307 c.102G>A c.(100-102)tcG>tcA p.S34S NM_004840.2 NP_004831.1 Q15052 ARHG6_HUMAN Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6 34 CH. apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|Rho guanyl-nucleotide exchange factor activity cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1) 38 Acute lymphoblastic leukemia(192;0.000127) CATTTTTCAGCGAGGACTTTA 0.428000 48 77 0 0 1 0 0 AHNAK2 113146 broad.mit.edu 37 14 105419469 105419469 + Silent SNP G G C TCGA-HD-A6HZ-01A-12D-A31L-08 TCGA-HD-A6HZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b98da821-cf8d-4641-bd2b-f803d471428a 98833ed3-146e-475c-ab5a-2de6f2eeedbe g.chr14:105419469G>C ENST00000333244.5 - 7 2438 c.2319C>G c.(2317-2319)ctC>ctG p.L773L AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 773 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) TGGGGCCCTTGAGGTCCACTT 0.627000 40 257 0 0 1 0 0 KRT39 390792 broad.mit.edu 37 17 39120032 39120032 + Silent SNP G G A TCGA-HD-A6HZ-01A-12D-A31L-08 TCGA-HD-A6HZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b98da821-cf8d-4641-bd2b-f803d471428a 98833ed3-146e-475c-ab5a-2de6f2eeedbe g.chr17:39120032G>A ENST00000355612.2 - 3 590 c.555C>T c.(553-555)taC>taT p.Y185Y AC004231.2_ENST00000418393.1_RNA NM_213656.3 NP_998821.3 Q6A163 K1C39_HUMAN keratin 39 185 Coil 1B.|Rod. intermediate filament structural molecule activity NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1) 17 Breast(137;0.00043)|Ovarian(249;0.15) CCTCAGCTTCGTATCTTTAAA 0.507000 8 42 0 0 1 0 0 AHNAK2 113146 broad.mit.edu 37 14 105407653 105407653 + Missense_Mutation SNP G G A TCGA-HD-A6HZ-01A-12D-A31L-08 TCGA-HD-A6HZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b98da821-cf8d-4641-bd2b-f803d471428a 98833ed3-146e-475c-ab5a-2de6f2eeedbe g.chr14:105407653G>A ENST00000333244.5 - 7 14254 c.14135C>T c.(14134-14136)tCt>tTt p.S4712F AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 4712 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) TTTGGTAGAAGAAAATGAAAC 0.398000 13 62 0 0 1 0 0 SPIB 6689 broad.mit.edu 37 19 50926135 50926135 + Silent SNP C C A TCGA-HD-A6HZ-01A-12D-A31L-08 TCGA-HD-A6HZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b98da821-cf8d-4641-bd2b-f803d471428a 98833ed3-146e-475c-ab5a-2de6f2eeedbe g.chr19:50926135C>A ENST00000595883.1 + 4 205 c.180C>A c.(178-180)gcC>gcA p.A60A SPIB_ENST00000596074.1_Intron|SPIB_ENST00000439922.2_Intron|SPIB_ENST00000270632.7_Silent_p.A60A|SPIB_ENST00000597855.1_Silent_p.A60A NM_001243999.1|NM_001244000.1|NM_003121.4 NP_001230928.1|NP_001230929.1|NP_003112.2 Q01892 SPIB_HUMAN Spi-B transcription factor (Spi-1/PU.1 related) 60 TAD2. regulation of transcription from RNA polymerase II promoter cytoplasm|microtubule cytoskeleton|nucleus sequence-specific DNA binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8) 14 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186) CCTATGAAGCCTTCGACCCGG 0.657000 15 141 1.15088e-07 1.25273e-07 1 1 0 GPR115 221393 broad.mit.edu 37 6 47680273 47680273 + Missense_Mutation SNP G G A TCGA-HD-A6HZ-01A-12D-A31L-08 TCGA-HD-A6HZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b98da821-cf8d-4641-bd2b-f803d471428a 98833ed3-146e-475c-ab5a-2de6f2eeedbe g.chr6:47680273G>A ENST00000283303.2 + 5 739 c.481G>A c.(481-483)Gca>Aca p.A161T GPR115_ENST00000327753.3_Missense_Mutation_p.A161T|GPR115_ENST00000371220.1_Missense_Mutation_p.A218T NM_153838.3 NP_722580.3 Q8IZF3 GP115_HUMAN G protein-coupled receptor 115 161 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 52 TGGAAATATTGCATTTATAGT 0.333000 10 57 0 0 1 0 0 RP13-221M14.3 0 broad.mit.edu 37 1 13164130 13164131 + RNA INS - - A TCGA-HD-A6HZ-01A-12D-A31L-08 TCGA-HD-A6HZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b98da821-cf8d-4641-bd2b-f803d471428a 98833ed3-146e-475c-ab5a-2de6f2eeedbe g.chr1:13164130_13164131insA ENST00000434606.1 - 0 284 TTTACTGTAACAAAAAAAAAAG 0.515 2 4 --- --- --- --- RGPD3 653489 broad.mit.edu 37 2 107041534 107041534 + Frame_Shift_Del DEL A A - TCGA-HD-A6HZ-01A-12D-A31L-08 TCGA-HD-A6HZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b98da821-cf8d-4641-bd2b-f803d471428a 98833ed3-146e-475c-ab5a-2de6f2eeedbe g.chr2:107041534delA ENST00000409886.3 - 20 2976 c.2889delT c.(2887-2889)ttfs p.F963fs RGPD3_ENST00000304514.7_Frame_Shift_Del_p.F963fs NM_001144013.1 NP_001137485.1 A6NKT7 RGPD3_HUMAN RANBP2-like and GRIP domain containing 3 963 intracellular transport binding breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2) 71 TTGTTTGGCCAAAAATCACAC 0.398 8 407 --- --- --- --- AC226119.5 0 broad.mit.edu 37 4 3951121 3951122 + RNA INS - - TGTC rs35568143 TCGA-HD-A6HZ-01A-12D-A31L-08 TCGA-HD-A6HZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b98da821-cf8d-4641-bd2b-f803d471428a 98833ed3-146e-475c-ab5a-2de6f2eeedbe g.chr4:3951121_3951122insTGTC ENST00000281228.8 - 0 344 FAM86EP_ENST00000313946.8_RNA cgttttcACTTTGTGCAGGAAG 0.515 3 4 --- --- --- --- CCSER1 401145 broad.mit.edu 37 4 91229789 91229789 + Frame_Shift_Del DEL T T - TCGA-HD-A6HZ-01A-12D-A31L-08 TCGA-HD-A6HZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b98da821-cf8d-4641-bd2b-f803d471428a 98833ed3-146e-475c-ab5a-2de6f2eeedbe g.chr4:91229789delT ENST00000509176.1 + 2 642 c.354delT c.(352-354)ggfs p.G118fs CCSER1_ENST00000432775.2_Frame_Shift_Del_p.G118fs|CCSER1_ENST00000333691.8_Frame_Shift_Del_p.G118fs NM_001145065.1 NP_001138537.1 coiled-coil serine-rich protein 1 ATTCTGTTGGTTTTAGTAGTT 0.358 8 34 --- --- --- --- RP11-242J7.1 0 broad.mit.edu 37 4 185536410 185536413 + RNA DEL TTTG TTTG - rs146473442 TCGA-HD-A6HZ-01A-12D-A31L-08 TCGA-HD-A6HZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b98da821-cf8d-4641-bd2b-f803d471428a 98833ed3-146e-475c-ab5a-2de6f2eeedbe g.chr4:185536410_185536413delTTTG ENST00000522554.1 - 0 292 CAAAGCCGATtttgtttgtttgtt 0.451 4 5 --- --- --- --- HOTTIP 100316868 broad.mit.edu 37 7 27239774 27239775 + RNA DEL GC GC - TCGA-HD-A6HZ-01A-12D-A31L-08 TCGA-HD-A6HZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b98da821-cf8d-4641-bd2b-f803d471428a 98833ed3-146e-475c-ab5a-2de6f2eeedbe g.chr7:27239774_27239775delGC ENST00000421733.1 + 0 167 gcggcgcggggccggggcccga 0.733 4 5 --- --- --- --- UBN2 254048 broad.mit.edu 37 7 138957129 138957130 + Frame_Shift_Del DEL AA AA - TCGA-HD-A6HZ-01A-12D-A31L-08 TCGA-HD-A6HZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b98da821-cf8d-4641-bd2b-f803d471428a 98833ed3-146e-475c-ab5a-2de6f2eeedbe g.chr7:138957129_138957130delAA ENST00000288561.8 + 9 1658_1659 c.1409_1410delAA c.(1408-1410)gfs p.E470fs UBN2_ENST00000473989.2_Frame_Shift_Del_p.E553fs NM_173569.3 NP_775840.3 Q6ZU65 UBN2_HUMAN ubinuclein 2 553 NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 42 GTCATGCCTGAACAGCTATTTA 0.386 8 91 --- --- --- --- SECISBP2 79048 broad.mit.edu 37 9 91940847 91940847 + Frame_Shift_Del DEL G G - TCGA-HD-A6HZ-01A-12D-A31L-08 TCGA-HD-A6HZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b98da821-cf8d-4641-bd2b-f803d471428a 98833ed3-146e-475c-ab5a-2de6f2eeedbe g.chr9:91940847delG ENST00000375807.3 + 4 539 c.468delG c.(466-468)cafs p.Q157fs SECISBP2_ENST00000470305.1_3'UTR|SECISBP2_ENST00000339901.4_Frame_Shift_Del_p.Q84fs|SECISBP2_ENST00000534113.2_Frame_Shift_Del_p.Q89fs NM_024077.3 NP_076982.3 Q96T21 SEBP2_HUMAN SECIS binding protein 2 157 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 CGTATGATCAGCAAAAGTTTG 0.343 10 51 --- --- --- --- ANKRD30BP3 338579 broad.mit.edu 37 10 45652578 45652579 + RNA DEL TA TA - rs3780893 by1000genomes TCGA-HD-A6HZ-01A-12D-A31L-08 TCGA-HD-A6HZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b98da821-cf8d-4641-bd2b-f803d471428a 98833ed3-146e-475c-ab5a-2de6f2eeedbe g.chr10:45652578_45652579delTA ENST00000427229.2 + 0 2092_2093 AAGGAACATCTAAGATGCTCAC 0.366 2 4 --- --- --- --- CELSR1 9620 broad.mit.edu 37 22 46793727 46793728 + Frame_Shift_Ins INS - - C TCGA-HD-A6HZ-01A-12D-A31L-08 TCGA-HD-A6HZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b98da821-cf8d-4641-bd2b-f803d471428a 98833ed3-146e-475c-ab5a-2de6f2eeedbe g.chr22:46793727_46793728insC ENST00000262738.3 - 12 5543_5544 c.5544_5545insG c.(5542-5547)ggcgccfs p.A1849fs NM_014246.1 NP_055061.1 Q9NYQ6 CELR1_HUMAN cadherin, EGF LAG seven-pass G-type receptor 1 1849 Laminin G-like 2. 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) TTGGTGGGCGTCCCCCCCATCC 0.599 9 21 --- --- --- ---