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 validation_method t_ref_count validation_status validation_tumor_sample t_alt_count validation_alt_allele pox qox pox_cutoff isArtifactMode oxoGCut KLHL36 79786 broad.mit.edu 37 16 84695527 84695527 + Missense_Mutation SNP C T T TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr16:84695527C>T uc002fig.3 + 4 1780 c.1639C>T c.(1639-1641)Cgc>Tgc p.R547C KLHL36_uc010chl.3_Missense_Mutation_p.R483C|AK057887_uc002fih.3_5'Flank NM_024731 NP_079007 Q8N4N3 KLH36_HUMAN Homo sapiens kelch-like 36 (Drosophila) (KLHL36), mRNA. 547 endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 GTGGGAGGGCCGCATCTACAT 0.682000 6 5 0 0 1.23904e-05 0 0 HECW2 57520 broad.mit.edu 37 2 197208396 197208396 + Missense_Mutation SNP G A A TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr2:197208396G>A uc002utm.1 - 2 568 c.385C>T c.(385-387)Ccc>Tcc p.P129S HECW2_uc002utl.1_5'UTR NM_020760 NP_065811 Q9P2P5 HECW2_HUMAN Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 (HECW2), mRNA. 129 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm ubiquitin-protein ligase activity biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 113 ATGAAATAGGGCCCAGGCTCA 0.363000 116 94 0 0 0.000147903 0 0 ITK 3702 broad.mit.edu 37 5 156670656 156670656 + Missense_Mutation SNP G A A TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr5:156670656G>A uc003lwo.1 + 11 1166 c.1084G>A c.(1084-1086)Gag>Aag p.E362K NM_005546 NP_005537 Q08881 ITK_HUMAN Homo sapiens IL2-inducible T-cell kinase (ITK), mRNA. 362 T cell receptor signaling pathway|cellular defense response|intracellular signal transduction cytosol|plasma membrane ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 70 Renal(175;0.00212) Medulloblastoma(196;0.0354)|all_neural(177;0.1) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) CGACCCCTCAGAGCTCACTTT 0.498000 T SYK peripheral T-cell lymphoma 167 108 0 0 0.000147903 0 0 PCDHB5 26167 broad.mit.edu 37 5 140515278 140515278 + Missense_Mutation SNP G A A TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr5:140515278G>A uc003liq.3 + 0 479 c.262G>A c.(262-264)Gaa>Aaa p.E88K NM_015669 NP_056484 Q9Y5E4 PCDB5_HUMAN Homo sapiens protocadherin beta 5 (PCDHB5), mRNA. 88 Cadherin 1. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding|protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2) 81 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCTTCTATATGAAAAACTAGA 0.473000 46 33 0 0 0.000409698 0 0 PTPRN2 5799 broad.mit.edu 37 7 157959833 157959833 + Missense_Mutation SNP C T T TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr7:157959833C>T uc003wno.3 - 5 821 c.700G>A c.(700-702)Gac>Aac p.D234N PTPRN2_uc003wnp.3_Missense_Mutation_p.D217N|PTPRN2_uc003wnq.3_Missense_Mutation_p.D234N|PTPRN2_uc003wnr.3_Missense_Mutation_p.D196N|PTPRN2_uc011kwa.2_Missense_Mutation_p.D257N NM_002847 NP_002838 Q92932 PTPR2_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, N polypeptide 2 (PTPRN2), transcript variant 1, mRNA. 234 integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 86 all_neural(206;0.181) all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132) OV - Ovarian serous cystadenocarcinoma(82;0.00463) STAD - Stomach adenocarcinoma(7;0.0875) ACACCACTGTCCACCTTAGGG 0.692000 10 26 0 0 0.000184323 0 0 DNAH2 146754 broad.mit.edu 37 17 7679380 7679380 + Silent SNP C T T TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr17:7679380C>T uc002giu.1 + 29 4874 c.4860C>T c.(4858-4860)acC>acT p.T1620T NM_020877 NP_065928 Q9P225 DYH2_HUMAN Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA. 1620 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) TGAGGGTGACCCTGCGGGACC 0.632000 26 21 0 0 0.000295444 0 0 CCDC85A 114800 broad.mit.edu 37 2 56419668 56419668 + Silent SNP C T T TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr2:56419668C>T uc002rzn.3 + 1 835 c.333C>T c.(331-333)ttC>ttT p.F111F CCDC85A_uc021vhw.1_Intron NM_001080433 NP_001073902 Q96PX6 CC85A_HUMAN Homo sapiens coiled-coil domain containing 85A (CCDC85A), mRNA. 111 breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3) 38 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) TCTGCTGTTTCCTGGATGATG 0.527000 33 22 0 0 0.000375601 0 0 MYLK 4638 broad.mit.edu 37 3 123457789 123457789 + Silent SNP G A A TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr3:123457789G>A uc003ego.3 - 6 825 c.543C>T c.(541-543)tcC>tcT p.S181S MYLK_uc011bjw.2_Silent_p.S181S|MYLK_uc003egp.3_Silent_p.S181S|MYLK_uc003egq.3_Silent_p.S181S|MYLK_uc003egr.3_Silent_p.S181S|MYLK_uc003egs.3_Silent_p.S5S|MYLK_uc010hrs.1_Silent_p.S181S NM_053025 NP_444253 Q15746 MYLK_HUMAN Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA. 181 Ig-like C2-type 2. aorta smooth muscle tissue morphogenesis|muscle contraction cytosol ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 113 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) TGATCTTGCAGGAGAATCGTC 0.572000 11 9 0 0 0.000274275 0 0 OR2W3 343171 broad.mit.edu 37 1 248059074 248059074 + Silent SNP C T T TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr1:248059074C>T uc010pzb.2 + 0 186 c.186C>T c.(184-186)ttC>ttT p.F62F OR2W3_uc001idp.1_Silent_p.F62F NM_001001957 NP_001001957 Q7Z3T1 OR2W3_HUMAN Homo sapiens olfactory receptor, family 2, subfamily W, member 3 (OR2W3), mRNA. 62 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3) 49 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0319) TGTACTTCTTCCTCGCCCACC 0.572000 61 36 0 0 0.000191422 0 0 SDK1 221935 broad.mit.edu 37 7 4213962 4213962 + Missense_Mutation SNP C T T TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr7:4213962C>T uc003smx.3 + 32 5048 c.4909C>T c.(4909-4911)Cct>Tct p.P1637S SDK1_uc010kso.3_Missense_Mutation_p.P913S|SDK1_uc003smy.3_Missense_Mutation_p.P124S NM_152744 NP_689957 Q7Z5N4 SDK1_HUMAN Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA. 1637 Fibronectin type-III 10. cell adhesion integral to membrane NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4) 153 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) GCTCAAAAACCCTATAGCTTT 0.552000 85 23 0 0 0.000586117 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A T T rs121913377 TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr7:140453136A>T uc003vwc.4 - 14 1860 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA. 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 36 53 0 0 0.000147903 0 0 TXN2 25828 broad.mit.edu 37 22 36876791 36876791 + Silent SNP G A A TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr22:36876791G>A uc003apk.1 - 1 171 c.94C>T c.(94-96)Ctg>Ttg p.L32L TXN2_uc003apl.1_Non-coding_Transcript NM_012473 NP_036605 Q99757 THIOM_HUMAN Homo sapiens thioredoxin 2 (TXN2), nuclear gene encoding mitochondrial protein, mRNA. 32 cell redox homeostasis|electron transport chain|glycerol ether metabolic process|transport mitochondrion|nucleolus electron carrier activity breast(1)|lung(1)|prostate(1) 3 GGGGTCTGCAGGGCTCTGGAA 0.562000 36 24 0 0 0.000117367 0 0 PSG3 5671 broad.mit.edu 37 19 43237057 43237057 + Silent SNP G A A TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr19:43237057G>A uc002oue.3 - 2 720 c.588C>T c.(586-588)tcC>tcT p.S196S PSG3_uc002ouf.3_Non-coding_Transcript|PSG3_uc002oug.1_Intron NM_021016 NP_066296 Q16557 PSG3_HUMAN Homo sapiens pregnancy specific beta-1-glycoprotein 3 (PSG3), mRNA. 196 Ig-like C2-type 1. defense response|female pregnancy extracellular region p.S196S(2) central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 36 Prostate(69;0.00682) TTTTGTTTTTGGACAACTGCA 0.507000 132 83 0 0 0.000147903 0 0 UBR1 197131 broad.mit.edu 37 15 43340622 43340622 + Nonsense_Mutation SNP G A A TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr15:43340622G>A uc001zqq.3 - 12 1573 c.1507C>T c.(1507-1509)Cga>Tga p.R503* UBR1_uc010udk.1_Nonsense_Mutation_p.R503* NM_174916 NP_777576 Q8IWV7 UBR1_HUMAN Homo sapiens ubiquitin protein ligase E3 component n-recognin 1 (UBR1), mRNA. 503 cellular response to leucine|negative regulation of TOR signaling cascade cytosol leucine binding|zinc ion binding p.R503Q(1) NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 58 all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214) AAAAAAGATCGAAAACCTTCA 0.303000 29 21 0 0 0.000295444 0 0 NLRP5 126206 broad.mit.edu 37 19 56539052 56539052 + Missense_Mutation SNP G A A TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr19:56539052G>A uc002qmj.3 + 6 1453 c.1453G>A c.(1453-1455)Gac>Aac p.D485N NLRP5_uc002qmi.3_Missense_Mutation_p.D466N NM_153447 NP_703148 P59047 NALP5_HUMAN Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA. 485 NACHT. mitochondrion|nucleolus ATP binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2) 25 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) GCAGCTGCAGGACGTGGTGGG 0.647000 27 7 0 0 8.12818e-05 0 0 EXOC6B 23233 broad.mit.edu 37 2 72802710 72802710 + Missense_Mutation SNP T A A TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr2:72802710T>A uc010fep.3 - 6 895 c.757A>T c.(757-759)Atc>Ttc p.I253F EXOC6B_uc002sij.2_Missense_Mutation_p.I253F NM_015189 NP_056004 Q9Y2D4 EXC6B_HUMAN Homo sapiens exocyst complex component 6B (EXOC6B), mRNA. 253 protein transport|vesicle docking involved in exocytosis exocyst breast(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3) 10 GTATCAAAGATTATATATGCA 0.398000 52 38 0 0 0.000159656 0 0 WDR72 256764 broad.mit.edu 37 15 53889401 53889401 + Missense_Mutation SNP G A A TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr15:53889401G>A uc002acj.2 - 17 3065 c.3023C>T c.(3022-3024)cCc>cTc p.P1008L NM_182758 NP_877435 Q3MJ13 WDR72_HUMAN Homo sapiens WD repeat domain 72 (WDR72), mRNA. 1008 p.I1007M(1) NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 71 all cancers(107;0.0511) ACTATTGACGGGTATCTTTCC 0.408000 97 57 0 0 0.000147903 0 0 PTCHD3 374308 broad.mit.edu 37 10 27687789 27687789 + Missense_Mutation SNP C T T TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr10:27687789C>T uc001itu.2 - 3 1856 c.1738G>A c.(1738-1740)Gat>Aat p.D580N NM_001034842 NP_001030014 Q3KNS1 PTHD3_HUMAN Homo sapiens patched domain containing 3 (PTCHD3), mRNA. 580 spermatid development integral to membrane hedgehog receptor activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 55 GGATGGATATCAGTTCCATGT 0.383000 7 21 0 0 0.000229342 0 0 TTN 7273 broad.mit.edu 37 2 179485585 179485585 + Missense_Mutation SNP G A A TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr2:179485585G>A uc021vsy.1 - 195 38273 c.38048C>T c.(38047-38049)tCa>tTa p.S12683L MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Missense_Mutation_p.S6378L|TTN_uc021vta.1_Missense_Mutation_p.S6311L|TTN_uc021vtb.1_Missense_Mutation_p.S6186L NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 13610 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) GATGTATTTTGAACTATCAAA 0.393000 66 62 0 0 0.000147903 0 0 MAN2A2 4122 broad.mit.edu 37 15 91462873 91462874 + Missense_Mutation DNP GG TT TT TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr15:91462873_91462874GG>TT uc010bnz.2 + 22 3424_3425 c.3309_3310GG>TT c.(3307-3312)ctgggc>ctTTgc p.G1104C MAN2A2_uc002bqc.3_Missense_Mutation_p.G1104C|MAN2A2_uc010uql.2_Missense_Mutation_p.G766C|MAN2A2_uc010uqm.2_Missense_Mutation_p.G683C|MAN2A2_uc010uqn.1_Non-coding_Transcript NM_006122 NP_006113 P49641 MA2A2_HUMAN Homo sapiens mannosidase, alpha, class 2A, member 2 (MAN2A2), mRNA. 1104 mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 47 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.229) AGGTAGCCCTGGGCAGCCTTTT 0.520000 326 9 0 0 6.4e-05 0 0 STAB2 55576 broad.mit.edu 37 12 104078786 104078786 + Missense_Mutation SNP C T T TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr12:104078786C>T uc001tjw.3 + 26 3107 c.2921C>T c.(2920-2922)tCg>tTg p.S974L NM_017564 NP_060034 Q8WWQ8 STAB2_HUMAN Homo sapiens stabilin 2 (STAB2), mRNA. 974 EGF-like 10. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 CAATCTACTTCGTCTGGTGTC 0.453000 106 71 0 0 0.000147903 0 0 C6 729 broad.mit.edu 37 5 41160404 41160404 + Silent SNP C T T TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr5:41160404C>T uc003jmk.2 - 10 1734 c.1524G>A c.(1522-1524)agG>agA p.R508R C6_uc003jml.1_Silent_p.R508R NM_000065 NP_001108603 P13671 CO6_HUMAN Homo sapiens complement component 6 (C6), transcript variant 1, mRNA. 508 MACPF. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding p.R508S(2) central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2) 96 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) GCAAAGCTTTCCTGAGGTTGT 0.522000 54 30 0 0 0.000339439 0 0 ZHX3 23051 broad.mit.edu 37 20 39831821 39831821 + Missense_Mutation SNP G A A TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr20:39831821G>A uc010ggg.1 - 0 1886 c.1736C>T c.(1735-1737)tCg>tTg p.S579L ZHX3_uc002xjr.1_Missense_Mutation_p.S579L|ZHX3_uc002xjs.1_Missense_Mutation_p.S579L|ZHX3_uc002xjt.1_Missense_Mutation_p.S579L|ZHX3_uc002xju.1_Missense_Mutation_p.S579L|ZHX3_uc002xjv.1_Missense_Mutation_p.S579L|ZHX3_uc002xjw.1_Missense_Mutation_p.S579L NM_015035 NP_055850 Q9H4I2 ZHX3_HUMAN Homo sapiens zinc fingers and homeoboxes 3 (ZHX3), mRNA. 579 negative regulation of transcription, DNA-dependent cytoplasm|nucleolus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 31 Myeloproliferative disorder(115;0.00425) GACCTTGGACGATGGGGAGAA 0.532000 75 44 0 0 0.000147903 0 0 F13A1 2162 broad.mit.edu 37 6 6224981 6224982 + Missense_Mutation DNP CG AT AT rs139164988 TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr6:6224981_6224982CG>AT uc003mwv.3 - 6 1033_1034 c.910_911CG>AT c.(910-912)cgg>ATg p.R304M F13A1_uc011dib.2_Missense_Mutation_p.R241M NM_000129 NP_000120 P00488 F13A_HUMAN Homo sapiens coagulation factor XIII, A1 polypeptide (F13A1), mRNA. 304 peptide cross-linking|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 62 Ovarian(93;0.0816) all_hematologic(90;0.152) L-Glutamine(DB00130) CTCAGAGCTCCGGTATTCCAAT 0.460000 132 6 0 0 6.4e-05 0 0 GIMAP4 55303 broad.mit.edu 37 7 150269283 150269283 + Missense_Mutation SNP G A A TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr7:150269283G>A uc003whl.3 + 2 207 c.125G>A c.(124-126)gGa>gAa p.G42E GIMAP4_uc011kuu.2_5'UTR|GIMAP4_uc011kuv.2_Missense_Mutation_p.G56E NM_018326 NP_060796 Q9NUV9 GIMA4_HUMAN Homo sapiens GTPase, IMAP family member 4 (GIMAP4), mRNA. 42 GTP binding breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(82;0.0179) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) ACCGGAGCAGGAAAAAGTGCA 0.463000 49 11 0 0 0.000151284 0 0 UNC13C 440279 broad.mit.edu 37 15 54305180 54305180 + Missense_Mutation SNP G A A TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr15:54305180G>A uc021smr.1 + 0 80 c.80G>A c.(79-81)gGa>gAa p.G27E UNC13C_uc021sms.1_Missense_Mutation_p.G27E NM_001080534 NP_001074003 Q8NB66 UN13C_HUMAN Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA. 27 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4) 121 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) AAGAAATTGGGAAATACAAAC 0.368000 46 32 0 0 0.000109025 0 0 PLA2G3 50487 broad.mit.edu 37 22 31533863 31533864 + Missense_Mutation DNP GG AA AA TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr22:31533863_31533864GG>AA uc003aka.3 - 3 1027_1028 c.898_899CC>TT c.(898-900)ccc>TTc p.P300F NM_015715 NP_056530 Q9NZ20 PA2G3_HUMAN Homo sapiens phospholipase A2, group III (PLA2G3), mRNA. 300 cilium morphogenesis|lipid catabolic process|phospholipid metabolic process centriole|extracellular space|plasma membrane calcium ion binding|calcium-dependent phospholipase A2 activity large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1) 18 TCGAGGCTTGGGAGGGGCTGGG 0.658000 61 35 0 0 6.4e-05 0 0 FAM86C1 55199 broad.mit.edu 37 8 8092007 8092007 + RNA SNP C T T TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr8:8092007C>T uc011kwt.2 + 3 c.375C>T FAM86C1_uc010lrq.2_Intron|FAM86C1_uc003wsf.4_Non-coding_Transcript Q9NVL1 FA86C_HUMAN Homo sapiens family with sequence similarity 86, member A pseudogene (FLJ10661), transcript variant 1, non-coding RNA. lung(1) 1 GCCCCCAGCACGAGGCTGTCC 0.547000 23 10 0 0 3.86212e-05 0 0 MAGEE1 57692 broad.mit.edu 37 X 75651013 75651013 + Missense_Mutation SNP A G G TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chrX:75651013A>G uc004ecm.2 + 0 2968 c.2690A>G c.(2689-2691)tAt>tGt p.Y897C NM_020932 NP_065983 Q9HCI5 MAGE1_HUMAN Homo sapiens melanoma antigen family E, 1 (MAGEE1), mRNA. 897 Interaction with DTNA (By similarity).|MAGE 2. dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1) 51 CCAGTGCAATATGAGTTTGTA 0.478000 4 19 0 0 0.000295444 0 0 OR51Q1 390061 broad.mit.edu 37 11 5444060 5444060 + Silent SNP C T T TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr11:5444060C>T uc010qzd.2 + 0 720 c.630C>T c.(628-630)atC>atT p.I210I HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron NM_001004757 NP_001004757 Q8NH59 O51Q1_HUMAN Homo sapiens olfactory receptor, family 51, subfamily Q, member 1 (OR51Q1), mRNA. 210 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2) 37 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TCATTATTATCGTGGATCCTC 0.502000 70 48 0 0 0.000147903 0 0 DSP 1832 broad.mit.edu 37 6 7583574 7583574 + Missense_Mutation SNP G A A TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr6:7583574G>A uc003mxp.1 + 23 6358 c.6079G>A c.(6079-6081)Gaa>Aaa p.E2027K DSP_uc003mxq.1_Missense_Mutation_p.E1428K|DSP_uc021yle.1_Missense_Mutation_p.E1584K NM_004415 NP_004406 P15924 DESP_HUMAN Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA. 2027 Globular 2. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) TTCTCCTAAGGAAAAATACTC 0.468000 33 44 0 0 0.000589545 0 0 ASPM 259266 broad.mit.edu 37 1 197097757 197097757 + Silent SNP G A A TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr1:197097757G>A uc001gtu.3 - 9 3056 c.2799C>T c.(2797-2799)ttC>ttT p.F933F ASPM_uc001gtv.3_Silent_p.F933F|ASPM_uc001gtw.4_Intron NM_018136 NP_060606 Q8IZT6 ASPM_HUMAN Homo sapiens asp (abnormal spindle) homolog, microcephaly associated (Drosophila) (ASPM), transcript variant 1, mRNA. 933 CH 1. mitosis cytoplasm|nucleus calmodulin binding breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3) 165 CACCACTTAGGAAATCTCGTG 0.333000 18 14 0 0 0.000422831 0 0 PTCH2 8643 broad.mit.edu 37 1 45292179 45292179 + Missense_Mutation SNP G A A TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr1:45292179G>A uc010olf.2 - 17 2969 c.2957C>T c.(2956-2958)cCc>cTc p.P986L PTCH2_uc021omv.1_Missense_Mutation_p.P986L|PTCH2_uc010olg.2_Missense_Mutation_p.P684L NM_003738 NP_003729 Q9Y6C5 PTC2_HUMAN Homo sapiens patched 2 (PTCH2), transcript variant 1, mRNA. 986 protein complex assembly|spermatogenesis integral to plasma membrane hedgehog receptor activity NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 50 Acute lymphoblastic leukemia(166;0.155) AGCCGTCCAGGGGTTGAGGAG 0.632000 Basal Cell Nevus syndrome 10 7 0 0 8.12818e-05 0 0 ACSBG2 81616 broad.mit.edu 37 19 6185474 6185474 + Silent SNP G A A TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr19:6185474G>A uc002mef.1 + 10 1577 c.1350G>A c.(1348-1350)aaG>aaA p.K450K ACSBG2_uc002mee.1_Silent_p.K263K|ACSBG2_uc002meg.1_Silent_p.K450K|ACSBG2_uc002meh.1_Silent_p.K450K|ACSBG2_uc002mei.1_Silent_p.K400K|ACSBG2_uc010xiz.1_Silent_p.K450K NM_030924 NP_112186 Q5FVE4 ACBG2_HUMAN Homo sapiens acyl-CoA synthetase bubblegum family member 2 (ACSBG2), mRNA. 450 cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis membrane|microsome|mitochondrion ATP binding|acyl-CoA thioesterase activity|long-chain fatty acid-CoA ligase activity breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 CTGGGTGTAAGAATATGCTGT 0.517000 112 78 0 0 0.000147903 0 0 CHD1 1105 broad.mit.edu 37 5 98229193 98229193 + Missense_Mutation SNP G A A TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr5:98229193G>A uc003knf.3 - 12 2066 c.1918C>T c.(1918-1920)Ctt>Ttt p.L640F NM_001270 NP_001261 O14646 CHD1_HUMAN Homo sapiens chromodomain helicase DNA binding protein 1 (CHD1), mRNA. 640 Helicase ATP-binding. regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2) 49 all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117) COAD - Colon adenocarcinoma(37;0.0717) Epirubicin(DB00445) CCAGTGATAAGGAGACGATGA 0.343000 83 55 0 0 0.000147903 0 0 ABCA9 10350 broad.mit.edu 37 17 66981056 66981056 + Missense_Mutation SNP C T T TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr17:66981056C>T uc002jhu.3 - 33 4492 c.4349G>A c.(4348-4350)gGg>gAg p.G1450E ABCA9_uc010dez.3_Missense_Mutation_p.G1412E NM_080283 NP_525022 Q8IUA7 ABCA9_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 9 (ABCA9), mRNA. 1450 ABC transporter 2. transport integral to membrane ATP binding|ATPase activity NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 91 Breast(10;1.47e-12) GGGGTCCATCCCGGTCGACGG 0.557000 22 11 0 0 0.000219431 0 0 AAMP 14 broad.mit.edu 37 2 219131205 219131205 + Missense_Mutation SNP G A A TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr2:219131205G>A uc002vhl.3 - 4 727 c.643C>T c.(643-645)Ccc>Tcc p.P215S AAMP_uc002vhk.3_Missense_Mutation_p.P214S NM_001087 NP_001078 Q13685 AAMP_HUMAN Homo sapiens angio-associated, migratory cell protein (AAMP), mRNA. 214 angiogenesis|cell differentiation|positive regulation of endothelial cell migration|smooth muscle cell migration cell surface|cytoplasm|plasma membrane heparin binding haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(4)|ovary(2)|skin(1) 11 Renal(207;0.0474) Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GGGCAGTTGGGACCCTGGAAG 0.612000 10 8 0 0 0.000157383 0 0 OR4C15 81309 broad.mit.edu 37 11 55321940 55321940 + Missense_Mutation SNP G A A TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr11:55321940G>A uc010rig.2 + 0 158 c.158G>A c.(157-159)gGa>gAa p.G53E NM_001001920 NP_001001920 Q8NGM1 OR4CF_HUMAN Homo sapiens olfactory receptor, family 4, subfamily C, member 15 (OR4C15), mRNA. 0 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5) 56 TTTTCCTTGGGAAACATGCAA 0.358000 HNSCC(20;0.049) 83 54 0 0 0.000147903 0 0 OR10Z1 128368 broad.mit.edu 37 1 158576831 158576831 + Silent SNP C T T TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr1:158576831C>T uc010pio.2 + 0 603 c.603C>T c.(601-603)atC>atT p.I201I NM_001004478 NP_001004478 Q8NGY1 O10Z1_HUMAN Homo sapiens olfactory receptor, family 10, subfamily Z, member 1 (OR10Z1), mRNA. 201 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.F200I(1) endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4) 37 all_hematologic(112;0.0378) GGATCTTTATCCTCAGTCTTT 0.522000 67 43 0 0 0.000147903 0 0 ABI3BP 25890 broad.mit.edu 37 3 100527030 100527030 + Silent SNP G A A TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr3:100527030G>A uc003dun.3 - 18 1732 c.1647C>T c.(1645-1647)cgC>cgT p.R549R ABI3BP_uc003duj.3_Silent_p.R104R|ABI3BP_uc003duk.3_Silent_p.R233R|ABI3BP_uc003dul.3_Silent_p.R354R|ABI3BP_uc011bhd.2_Silent_p.R503R|ABI3BP_uc003dum.3_5'UTR NM_015429 NP_056244 Q7Z7G0 TARSH_HUMAN Homo sapiens ABI family, member 3 (NESH) binding protein (ABI3BP), mRNA. 549 Pro-rich. extracellular space central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 50 GGATTCTTGGGCGTGGTGATG 0.393000 24 11 0 0 0.000308642 0 0 CSPG5 10675 broad.mit.edu 37 3 47618383 47618384 + Missense_Mutation DNP GG TT TT TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr3:47618383_47618384GG>TT uc003crp.4 - 1 1308_1309 c.1132_1133CC>AA c.(1132-1134)cca>AAa p.P378K CSPG5_uc003crn.3_Missense_Mutation_p.P240K|CSPG5_uc003cro.4_Missense_Mutation_p.P378K|CSPG5_uc021wxh.1_Missense_Mutation_p.P378K|CSPG5_uc021wxi.1_Missense_Mutation_p.P240K|CSPG5_uc011bbb.2_Missense_Mutation_p.P240K NM_001206943 NP_001193872 O95196 CSPG5_HUMAN Homo sapiens chondroitin sulfate proteoglycan 5 (neuroglycan C) (CSPG5), transcript variant 3, mRNA. 378 EGF-like. cell differentiation|intracellular transport|nervous system development|regulation of growth Golgi-associated vesicle membrane|endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction growth factor activity p.P378Q(2) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(2) 22 BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621) ACAGTAACTTGGGAAGAGGTCG 0.589000 166 7 0 0 6.4e-05 0 0 HSD17B1 3292 broad.mit.edu 37 17 40705284 40705284 + Silent SNP G A A TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr17:40705284G>A uc002hzw.3 + 1 1208 c.240G>A c.(238-240)gtG>gtA p.V80V HSD17B1_uc010wgm.2_Non-coding_Transcript|BC043620_uc002hzy.3_Silent_p.V99V|HSD17B1_uc010cyi.3_Silent_p.V111V NM_000413 NP_000404 P14061 DHB1_HUMAN Homo sapiens hydroxysteroid (17-beta) dehydrogenase 1 (HSD17B1), mRNA. 80 estrogen biosynthetic process cytosol binding|estradiol 17-beta-dehydrogenase activity NS(1)|endometrium(1)|kidney(1)|lung(2) 5 all_cancers(22;5.59e-08)|all_epithelial(22;7e-07)|Ovarian(249;0.0261) BRCA - Breast invasive adenocarcinoma(366;0.129) NADH(DB00157) GGGAACGCGTGACTGAGGGCC 0.667000 23 13 0 0 0.000566183 0 0 ZNF620 253639 broad.mit.edu 37 3 40553021 40553021 + Missense_Mutation SNP G A A TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr3:40553021G>A uc003ckk.3 + 2 234 c.85G>A c.(85-87)Gac>Aac p.D29N ZNF620_uc003ckl.3_Intron NM_175888 NP_787084 Q6ZNG0 ZN620_HUMAN Homo sapiens zinc finger protein 620 (ZNF620), transcript variant 1, mRNA. 29 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(1)|urinary_tract(1) 11 KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653) GGCCAGCCTGGACTCTGTGCA 0.507000 47 32 0 0 0.00058488 0 0 MYH1 4619 broad.mit.edu 37 17 10408747 10408747 + Silent SNP G A A TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr17:10408747G>A uc002gmo.3 - 19 2350 c.2256C>T c.(2254-2256)tcC>tcT p.S752S AK097500_uc002gml.1_Intron NM_005963 NP_005954 P12882 MYH1_HUMAN Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA. 752 Myosin head-like. muscle myosin complex|myofibril|myosin filament ATP binding|actin binding|calmodulin binding|motor activity NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 CAATGTCAATGGACCCCAGGA 0.403000 41 31 0 0 0.000279167 0 0 SCN5A 6331 broad.mit.edu 37 3 38592525 38592525 + Missense_Mutation SNP C T T TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr3:38592525C>T uc021wvo.1 - 26 5390 c.5338G>A c.(5338-5340)Gag>Aag p.E1780K SCN5A_uc021wvk.1_Missense_Mutation_p.E1747K|SCN5A_uc021wvl.1_Missense_Mutation_p.E1726K|SCN5A_uc021wvm.1_Missense_Mutation_p.E1762K|SCN5A_uc021wvn.1_Missense_Mutation_p.E1779K|SCN5A_uc021wvp.1_Missense_Mutation_p.E1780K|SCN5A_uc021wvq.1_3'UTR|SCN5A_uc021wvr.1_3'UTR|SCN5A_uc021wvs.1_3'UTR|SCN5A_uc021wvt.1_3'UTR|SCN5A_uc021wvu.1_3'UTR|SCN5A_uc021wvv.1_3'UTR|SCN5A_uc021wvj.1_Missense_Mutation_p.E1592K|SCN5A_uc021wvi.1_Missense_Mutation_p.E1646K NM_198056 NP_932173 Q14524 SCN5A_HUMAN Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA. 1780 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4) 107 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) GTGCTCTCCTCCGTGGCCACG 0.507000 39 22 0 0 0.000175454 0 0 ACSM2B 348158 broad.mit.edu 37 16 20566767 20566767 + Missense_Mutation SNP C T T TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr16:20566767C>T uc002dhj.4 - 4 630 c.420G>A c.(418-420)atG>atA p.M140I ACSM2B_uc002dhk.4_Missense_Mutation_p.M140I|ACSM2B_uc010bwf.1_Missense_Mutation_p.M140I NM_182617 NP_872423 Q68CK6 ACS2B_HUMAN Homo sapiens acyl-CoA synthetase medium-chain family member 2B (ACSM2B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 140 fatty acid metabolic process|xenobiotic metabolic process mitochondrial matrix ATP binding|CoA-ligase activity|butyrate-CoA ligase activity|metal ion binding breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5) 57 CAGTGGATTTCATCTGGATGG 0.428000 50 26 0 0 0.000339439 0 0 HYDIN 54768 broad.mit.edu 37 16 70843823 70843823 + Nonsense_Mutation SNP G A A TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr16:70843823G>A uc002ezr.3 - 84 14894 c.14743C>T c.(14743-14745)Caa>Taa p.Q4915* HYDIN_uc010cfy.3_Non-coding_Transcript NM_032821 NP_116210 Q4G0P3 HYDIN_HUMAN Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA. 4916 p.Y4914>?(1)|p.Y4866>?(1) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) AGCTCATATTGGTAGTAACCC 0.468000 280 152 0 0 0.000147903 0 0 FMN2 56776 broad.mit.edu 37 1 240371717 240371717 + Missense_Mutation SNP C T T TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr1:240371717C>T uc010pye.2 + 5 3842 c.3617C>T c.(3616-3618)cCt>cTt p.P1206L FMN2_uc010pyd.2_Missense_Mutation_p.P1202L NM_020066 NP_064450 Q9NZ56 FMN2_HUMAN Homo sapiens formin 2 (FMN2), mRNA. 1202 FH1.|Pro-rich. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) CCCCCTCTACCTGGTGCTGGG 0.672000 3 3 0 0 0.00024832 0 0 SERPINB3 6317 broad.mit.edu 37 18 61322895 61322896 + Missense_Mutation DNP GG TT TT TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr18:61322895_61322896GG>TT uc002lji.3 - 7 1312_1313 c.1168_1169CC>AA c.(1168-1170)ccg>AAg p.P390K SERPINB3_uc002ljg.3_Intron|SERPINB3_uc010dqa.3_Missense_Mutation_p.P338K NM_006919 NP_008850 P29508 SPB3_HUMAN Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 3 (SERPINB3), mRNA. 390 regulation of proteolysis cytoplasm|extracellular region protein binding|serine-type endopeptidase inhibitor activity p.P390Q(2) breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2) 36 TTGCATCTACGGGGATGAGAAT 0.396000 121 7 0 0 6.4e-05 0 0 IL36A 27179 broad.mit.edu 37 2 113763452 113763452 + Missense_Mutation SNP G A A TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr2:113763452G>A uc010yxr.2 + 0 4 c.4G>A c.(4-6)Gaa>Aaa p.E2K NM_014440 NP_055255 Q9UHA7 IL36A_HUMAN Homo sapiens interleukin 36, alpha (IL36A), mRNA. 2 immune response|inflammatory response extracellular space cytokine activity|interleukin-1 receptor binding large_intestine(1)|lung(3)|ovary(2)|skin(1)|stomach(2) 9 CACCACAATGGAAAAAGGTAA 0.443000 28 15 0 0 7.07596e-05 0 0 TREM1 54210 broad.mit.edu 37 6 41254361 41254361 + Nonsense_Mutation SNP C T T TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr6:41254361C>T uc003oqf.2 - 0 97 c.33G>A c.(31-33)tgG>tgA p.W11* TREM1_uc003oqg.2_Nonsense_Mutation_p.W11*|TREM1_uc021yzj.1_Nonsense_Mutation_p.W11* NM_018643 NP_061113 Q9NP99 TREM1_HUMAN Homo sapiens triggering receptor expressed on myeloid cells 1 (TREM1), transcript variant 1, mRNA. 11 blood coagulation|humoral immune response|intracellular signal transduction|leukocyte migration extracellular region|integral to membrane|intracellular|plasma membrane receptor activity NS(1)|breast(2)|endometrium(2)|large_intestine(5)|lung(5)|skin(1) 16 Ovarian(28;0.0327)|Colorectal(47;0.196) Glutathione(DB00143) CAAAGAGCATCCACAGCAGCC 0.577000 49 12 0 0 0.000151284 0 0 DDX60 55601 broad.mit.edu 37 4 169227844 169227844 + Missense_Mutation SNP G A A TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr4:169227844G>A uc003irp.3 - 4 584 c.292C>T c.(292-294)Cct>Tct p.P98S NM_017631 NP_060101 Q8IY21 DDX60_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 (DDX60), mRNA. 98 ATP binding|ATP-dependent helicase activity|RNA binding breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4) 63 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.0485) AGAAGTTCAGGGAAGTTGAAA 0.353000 29 24 0 0 9.22233e-05 0 0 SLAMF1 6504 broad.mit.edu 37 1 160604424 160604425 + Nonsense_Mutation DNP CG AT AT TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr1:160604424_160604425CG>AT uc001fwl.4 - 2 1024_1025 c.678_679CG>AT c.(676-681)cccgga>ccATga p.G227* SLAMF1_uc010pjk.2_Non-coding_Transcript|SLAMF1_uc010pjl.2_Non-coding_Transcript|SLAMF1_uc010pjm.2_Non-coding_Transcript NM_003037 NP_003028 Q13291 SLAF1_HUMAN Homo sapiens signaling lymphocytic activation molecule family member 1 (SLAMF1), mRNA. 227 interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation integral to membrane antigen binding|transmembrane receptor activity p.P226P(2) breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 25 all_cancers(52;4.94e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0175) GTCCTGCATCCGGGCCACGGGC 0.579000 66 5 0 0 6.4e-05 0 0 ODZ1 10178 broad.mit.edu 37 X 123518420 123518420 + Missense_Mutation SNP C T T TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chrX:123518420C>T uc010nqy.3 - 29 6425 c.6361G>A c.(6361-6363)Gaa>Aaa p.E2121K ODZ1_uc011muj.2_Missense_Mutation_p.E2120K|ODZ1_uc004euj.3_Missense_Mutation_p.E2114K NM_001163278 NP_001156750 Q9UKZ4 TEN1_HUMAN Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA. 2114 immune response|negative regulation of cell proliferation|nervous system development|signal transduction extracellular region heparin binding p.I2121N(1) NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2) 212 TTTAGGATTTCATATTGGACT 0.373000 12 50 0 0 0.000147903 0 0 LINGO2 158038 broad.mit.edu 37 9 27950117 27950117 + Missense_Mutation SNP C T T TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr9:27950117C>T uc003zqv.1 - 6 1203 c.553G>A c.(553-555)Gag>Aag p.E185K LINGO2_uc010mjf.1_Missense_Mutation_p.E185K|LINGO2_uc003zqu.1_Missense_Mutation_p.E185K|LINGO2_uc022bfc.1_Missense_Mutation_p.E185K NM_152570 NP_689783 Q7L985 LIGO2_HUMAN Homo sapiens leucine rich repeat and Ig domain containing 2 (LINGO2), mRNA. 185 integral to membrane autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 44 Melanoma(11;0.242) all_neural(11;2.78e-09) UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604) TTGCATTTCTCCAGGGTGAGC 0.473000 13 18 0 0 7.07596e-05 0 0 CYP17A1 1586 broad.mit.edu 37 10 104594763 104594763 + Missense_Mutation SNP C T T TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr10:104594763C>T uc001kwg.3 - 2 617 c.445G>A c.(445-447)Gaa>Aaa p.E149K NM_000102 NP_000093 P05093 CP17A_HUMAN Homo sapiens cytochrome P450, family 17, subfamily A, polypeptide 1 (CYP17A1), mRNA. 149 androgen biosynthetic process|glucocorticoid biosynthetic process|sex differentiation|xenobiotic metabolic process endoplasmic reticulum membrane electron carrier activity|heme binding|oxygen binding|steroid 17-alpha-monooxygenase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2) 18 Colorectal(252;0.122)|all_hematologic(284;0.152) Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215) NADH(DB00157)|Progesterone(DB00396) GTACTGATTTCCTGACAAACT 0.517000 OREG0020487 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 17 17 0 0 0.000566183 0 0 OR51A7 119687 broad.mit.edu 37 11 4929452 4929452 + Missense_Mutation SNP C T T TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr11:4929452C>T uc010qyq.2 + 0 853 c.853C>T c.(853-855)Ctt>Ttt p.L285F NM_001004749 NP_001004749 Q8NH64 O51A7_HUMAN Homo sapiens olfactory receptor, family 51, subfamily A, member 7 (OR51A7), mRNA. 285 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.P284L(1) breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19) GGTGCCGCCCCTTATGAACCC 0.453000 70 42 0 0 0.000270559 0 0 OR8B2 26595 broad.mit.edu 37 11 124253109 124253109 + Missense_Mutation SNP C T T TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr11:124253109C>T uc010sai.2 - 0 131 c.131G>A c.(130-132)gGc>gAc p.G44D OR8B2_uc001qab.3_Non-coding_Transcript NM_001005468 NP_001005468 Q96RD0 OR8B2_HUMAN Homo sapiens olfactory receptor, family 8, subfamily B, member 2 (OR8B2), mRNA. 44 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1) 23 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277) AGTGATCAAGCCAAGGTTGCC 0.418000 58 45 0 0 0.000147903 0 0 OR2L2 26246 broad.mit.edu 37 1 248202216 248202216 + Missense_Mutation SNP C T T TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr1:248202216C>T uc001idw.3 + 0 743 c.647C>T c.(646-648)tCc>tTc p.S216F OR2L13_uc001ids.3_Intron NM_001004686 NP_001004686 Q8NH16 OR2L2_HUMAN Homo sapiens olfactory receptor, family 2, subfamily L, member 2 (OR2L2), mRNA. 216 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1) 42 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;0.0278) ATTGCATGTTCCTATGGCCGG 0.507000 85 44 0 0 0.000589545 0 0 OR51B5 282763 broad.mit.edu 37 11 5364611 5364611 + Silent SNP C T T TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr11:5364611C>T uc001map.1 - 0 144 c.144G>A c.(142-144)aaG>aaA p.K48K HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Silent_p.K48K NM_001005567 NP_001005567 Q9H339 O51B5_HUMAN Homo sapiens olfactory receptor, family 51, subfamily B, member 5 (OR51B5), transcript variant 1, mRNA. 48 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 28 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TGTGATCTTCCTTAATGAGAA 0.498000 38 27 0 0 0.000227799 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140865726 140865726 + Missense_Mutation SNP C T T TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr5:140865726C>T uc003lky.2 + 0 986 c.986C>T c.(985-987)gCc>gTc p.A329V PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lkq.2_Intron|PCDHGC5_uc003lkp.2_Intron|PCDHGC5_uc003lkt.2_Intron|PCDHGC5_uc003lkv.2_Intron|PCDHGC5_uc003lkw.2_Intron|PCDHGC5_uc011dbb.2_Missense_Mutation_p.A329V NM_018928 NP_061751 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily C, 4 (PCDHGC4), transcript variant 1, mRNA. 329 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGTTCTCCAGCCATGGAGCAA 0.522000 30 9 0 0 0.000274275 0 0 KRT78 196374 broad.mit.edu 37 12 53233687 53233687 + Missense_Mutation SNP C T T TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr12:53233687C>T uc001sbc.1 - 6 1193 c.1129G>A c.(1129-1131)Gag>Aag p.E377K NM_173352 NP_775487 Q8N1N4 K2C78_HUMAN Homo sapiens keratin 78 (KRT78), mRNA. 377 Coil 2.|Rod. keratin filament protein binding|structural molecule activity endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 18 GCCTCCAGCTCGTCCACCTTG 0.627000 9 10 0 0 0.000442599 0 0 HRNR 388697 broad.mit.edu 37 1 152192762 152192762 + Missense_Mutation SNP C T T TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr1:152192762C>T uc001ezt.1 - 2 1419 c.1343G>A c.(1342-1344)cGa>cAa p.R448Q NM_001009931 NP_001009931 Q86YZ3 HORN_HUMAN Homo sapiens hornerin (HRNR), mRNA. 448 keratinization calcium ion binding|protein binding p.R448Q(2)|p.R448*(1) autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GCTGGAAGATCGACCAAAGCC 0.582000 42 23 0 0 0.00047179 0 0 KCNH6 81033 broad.mit.edu 37 17 61611442 61611442 + Missense_Mutation SNP G T T TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr17:61611442G>T uc002jay.3 + 4 951 c.871G>T c.(871-873)Ggg>Tgg p.G291W KCNH6_uc002jax.1_Missense_Mutation_p.G291W|KCNH6_uc010wpl.2_Missense_Mutation_p.G168W|KCNH6_uc010wpm.2_Missense_Mutation_p.G291W|KCNH6_uc002jaz.1_Missense_Mutation_p.G291W NM_030779 NP_110406 Q9H252 KCNH6_HUMAN Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 6 (KCNH6), transcript variant 1, mRNA. 291 regulation of transcription, DNA-dependent|signal transduction breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 Ibutilide(DB00308) ATCACGGCGTGGGGCCTGCAG 0.582000 45 5 3.07112e-06 5.90386e-05 6.40141e-05 1 0 LEFTY1 10637 broad.mit.edu 37 1 226074761 226074761 + Missense_Mutation SNP G A A TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr1:226074761G>A uc001hpo.3 - 3 847 c.767C>T c.(766-768)cCa>cTa p.P256L PYCR2_uc010pvj.2_3'UTR NM_020997 NP_066277 O75610 LFTY1_HUMAN Homo sapiens left-right determination factor 1 (LEFTY1), mRNA. 256 cell growth|multicellular organismal development|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity|transforming growth factor beta receptor binding cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 10 Breast(184;0.197) CTCGGTCATTGGTGCTTCAGG 0.647000 8 9 0 0 0.000274275 0 0 IL28A 282616 broad.mit.edu 37 19 39760175 39760175 + Silent SNP G A A TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr19:39760175G>A uc002oku.1 + 3 370 c.318G>A c.(316-318)ctG>ctA p.L106L NM_172138 NP_742150 Q8IZJ0 IL28A_HUMAN Homo sapiens interleukin 28A (interferon, lambda 2) (IL28A), mRNA. 106 response to virus extracellular space cytokine activity cervix(1)|endometrium(1)|kidney(1)|lung(1)|ovary(1)|skin(1) 6 all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512) Epithelial(26;5.39e-26)|all cancers(26;4.1e-23)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335) CCCTGACGCTGAAGGTTCTGG 0.637000 24 15 0 0 0.000566183 0 0 ZNRF1 84937 broad.mit.edu 37 16 75140409 75140409 + Missense_Mutation SNP G T T TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr16:75140409G>T uc010cgr.1 + 4 1464 c.809G>T c.(808-810)aGa>aTa p.R270I ZNRF1_uc002fdk.3_Missense_Mutation_p.R219I|ZNRF1_uc002fdl.1_Missense_Mutation_p.R219I NM_032268 NP_115644 Q8ND25 ZNRF1_HUMAN Homo sapiens zinc and ring finger 1 (ZNRF1), mRNA. 219 cell junction|endosome|lysosome|synaptic vesicle membrane ligase activity|protein binding|zinc ion binding breast(1) 1 GAAGTGAACAGATCTTGTCCG 0.602000 27 16 2.94398e-08 5.68654e-07 9.7654e-05 1 0 MUC5B 727897 broad.mit.edu 37 11 1272382 1272382 + Silent SNP C T T TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr11:1272382C>T uc001lta.3 + 30 14331 c.14272C>T c.(14272-14274)Ctg>Ttg p.L4758L NM_002458 NP_002449 Q9HC84 MUC5B_HUMAN Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA. 4758 23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich. cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) CTCCTCCACCCTGTGGACCAC 0.582000 26 6 0 0 3.59834e-05 0 0 NDRG2 57447 broad.mit.edu 37 14 21486621 21486621 + Missense_Mutation SNP G A A TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr14:21486621G>A uc001vyy.3 - 13 1006 c.856C>T c.(856-858)Ctc>Ttc p.L286F NDRG2_uc010tll.2_Missense_Mutation_p.L282F|NDRG2_uc001vyt.3_Missense_Mutation_p.L199F|NDRG2_uc001vyu.3_Missense_Mutation_p.L243F|NDRG2_uc001vyv.3_Missense_Mutation_p.L272F|NDRG2_uc001vyw.3_Missense_Mutation_p.L272F|NDRG2_uc001vzb.3_Missense_Mutation_p.L226F|NDRG2_uc001vyx.3_Missense_Mutation_p.L286F|NDRG2_uc001vza.3_Missense_Mutation_p.L272F|NDRG2_uc001vyz.3_Missense_Mutation_p.L272F|NDRG2_uc001vzc.3_Intron|NDRG2_uc010aig.3_Missense_Mutation_p.L275F|NDRG2_uc001vze.3_Missense_Mutation_p.L286F|NDRG2_uc001vzd.3_Missense_Mutation_p.L286F|NDRG2_uc001vzg.3_Missense_Mutation_p.L272F|NDRG2_uc001vzf.3_Missense_Mutation_p.L272F NM_201540 NP_963834 Q9UN36 NDRG2_HUMAN Homo sapiens NDRG family member 2 (NDRG2), transcript variant 7, mRNA. 286 cell differentiation|nervous system development Golgi apparatus|centrosome|cytosol|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) CTGACCTTGAGGAACGAGGTC 0.582000 13 9 0 0 0.000274275 0 0 RECQL4 9401 broad.mit.edu 37 8 145740779 145740779 + Missense_Mutation SNP G A A TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr8:145740779G>A uc003zdj.3 - 6 1363 c.1321C>T c.(1321-1323)Cct>Tct p.P441S LRRC14_uc003zdk.2_5'Flank|LRRC14_uc003zdl.2_5'Flank NM_004260 NP_004251 O94761 RECQ4_HUMAN Homo sapiens RecQ protein-like 4 (RECQL4), mRNA. 441 P -> S. DNA duplex unwinding|DNA recombination|DNA repair cytoplasm|nucleus ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|bubble DNA binding|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) GGCACCTCAGGTACAGGTTGT 0.627000 """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 47 12 0 0 0.000151284 0 0 PCLO 27445 broad.mit.edu 37 7 82545193 82545193 + Missense_Mutation SNP C T T TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr7:82545193C>T uc003uhx.2 - 6 12398 c.12109G>A c.(12109-12111)Gat>Aat p.D4037N PCLO_uc003uhv.2_Missense_Mutation_p.D4037N|PCLO_uc010lec.3_Missense_Mutation_p.D1002N NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA. 3968 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 TGATCAATATCTGCATAGAAA 0.398000 74 15 0 0 0.000422831 0 0 FAM90A1 55138 broad.mit.edu 37 12 8376714 8376714 + Missense_Mutation SNP C A A TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr12:8376714C>A uc001qui.2 - 4 780 c.221G>T c.(220-222)gGg>gTg p.G74V FAM90A1_uc001quh.2_Missense_Mutation_p.G74V NM_018088 NP_060558 Q86YD7 F90A1_HUMAN Homo sapiens family with sequence similarity 90, member A1 (FAM90A1), mRNA. 74 nucleic acid binding|zinc ion binding endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 25 Kidney(36;0.0866) TTCCTTTTCCCCAAAGTTCGG 0.547000 45 32 9.65021e-13 1.87298e-11 0.000339439 1 0 CD48 962 broad.mit.edu 37 1 160650956 160650956 + Missense_Mutation SNP C T T TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr1:160650956C>T uc001fwo.1 - 2 720 c.688G>A c.(688-690)Ggt>Agt p.G230S CD48_uc001fwn.3_Intron NM_001778 NP_001769 P09326 CD48_HUMAN Homo sapiens CD48 molecule (CD48), transcript variant 1, mRNA. 0 blood coagulation|defense response|leukocyte migration integral to plasma membrane|membrane raft protein binding breast(2)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|stomach(1) 10 all_cancers(52;2.18e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0175) CTCCAGTTACCCTGTGCCCCC 0.557000 10 9 0 0 3.86212e-05 0 0 RASGRP2 10235 broad.mit.edu 37 11 64507588 64507588 + Missense_Mutation SNP C T T TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr11:64507588C>T uc009ypu.3 - 5 646 c.419G>A c.(418-420)gGa>gAa p.G140E RASGRP2_uc001oat.3_Missense_Mutation_p.G42E|RASGRP2_uc001oau.3_5'UTR|RASGRP2_uc009ypv.3_Missense_Mutation_p.G140E|RASGRP2_uc009ypw.3_Missense_Mutation_p.G140E NM_001098671 NP_722541 Q7LDG7 GRP2_HUMAN Homo sapiens RAS guanyl releasing protein 2 (calcium and DAG-regulated) (RASGRP2), transcript variant 4, mRNA. 140 Ras protein signal transduction|platelet activation|regulation of cell growth|regulation of small GTPase mediated signal transduction cell junction|cytosol|ruffle membrane|synapse|synaptosome calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 CTTTTTCTGTCCCACAGGGTT 0.587000 45 21 0 0 0.000229342 0 0 EEF2 1938 broad.mit.edu 37 19 3982420 3982420 + Silent SNP G A A TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr19:3982420G>A uc002lze.3 - 4 698 c.615C>T c.(613-615)atC>atT p.I205I NM_001961 NP_001952 P13639 EF2_HUMAN Homo sapiens eukaryotic translation elongation factor 2 (EEF2), mRNA. 205 cytosol|ribonucleoprotein complex GTP binding|GTPase activity|protein binding|translation elongation factor activity endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18) GGACAGGATCGATCTGGAAGT 0.632000 26 18 0 0 9.7654e-05 0 0 ABCC3 8714 broad.mit.edu 37 17 48734526 48734526 + Silent SNP C T T TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr17:48734526C>T uc002isl.3 + 3 548 c.468C>T c.(466-468)atC>atT p.I156I ABCC3_uc002isk.4_Silent_p.I156I NM_003786 NP_003777 O15438 MRP3_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 3 (ABCC3), transcript variant 1, mRNA. 156 bile acid metabolic process integral to plasma membrane|membrane fraction ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 BRCA - Breast invasive adenocarcinoma(22;3.05e-09) Glibenclamide(DB01016) GCTCCAAGATCCTTTTAGCCA 0.567000 44 31 0 0 0.00058488 0 0 FBN1 2200 broad.mit.edu 37 15 48719895 48719895 + Missense_Mutation SNP A C C TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr15:48719895A>C uc001zwx.2 - 57 7468 c.7073T>G c.(7072-7074)gTc>gGc p.V2358G FBN1_uc010beo.2_Non-coding_Transcript NM_000138 NP_000129 P35555 FBN1_HUMAN Homo sapiens fibrillin 1 (FBN1), mRNA. 2358 TB 9. heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding p.P2357L(1)|p.P2357P(1) NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 139 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) CGATTTGGTGACGGGGTTCCT 0.542000 26 21 0 0 0.000117367 0 0 GRID2 2895 broad.mit.edu 37 4 94316831 94316831 + Missense_Mutation SNP G A A rs76699542 TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr4:94316831G>A uc011cdt.2 + 8 1577 c.1319G>A c.(1318-1320)gGa>gAa p.G440E GRID2_uc011cdu.2_Missense_Mutation_p.G345E NM_001510 NP_001501 O43424 GRID2_HUMAN Homo sapiens glutamate receptor, ionotropic, delta 2 (GRID2), mRNA. 440 glutamate signaling pathway cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Hepatocellular(203;0.114)|all_hematologic(202;0.177) OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191) L-Glutamic Acid(DB00142) AACATGCGTGGAGTGGTTCTA 0.393000 54 30 0 0 0.000159656 0 0 NIN 51199 broad.mit.edu 37 14 51224286 51224286 + Silent SNP G A A TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr14:51224286G>A uc001wyi.3 - 17 3653 c.3462C>T c.(3460-3462)gaC>gaT p.D1154D NIN_uc001wyj.3_Intron|NIN_uc001wym.2_Silent_p.D1154D|NIN_uc001wyk.3_Intron|NIN_uc001wyo.3_Silent_p.D1154D NM_020921 NP_065972 Q8N4C6 NIN_HUMAN Homo sapiens ninein (GSK3B interacting protein) (NIN), transcript variant 2, mRNA. 1154 centrosome localization centrosome|microtubule GTP binding|calcium ion binding|protein binding breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 71 all_epithelial(31;0.00244)|Breast(41;0.127) TACTTCCCAGGTCCCGGACCT 0.478000 T PDGFRB MPD 55 20 0 0 0.000229342 0 0 MIPEP 4285 broad.mit.edu 37 13 24433031 24433031 + Silent SNP G A A TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr13:24433031G>A uc001uox.4 - 9 1202 c.1074C>T c.(1072-1074)ccC>ccT p.P358P NM_005932 NP_005923 Q99797 MIPEP_HUMAN Homo sapiens mitochondrial intermediate peptidase (MIPEP), nuclear gene encoding mitochondrial protein, mRNA. 358 protein processing involved in protein targeting to mitochondrion|proteolysis mitochondrial matrix metal ion binding|metalloendopeptidase activity breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(12)|prostate(2)|skin(1) 27 all_cancers(29;1.83e-22)|all_epithelial(30;8.75e-19)|all_lung(29;9.17e-18)|Lung SC(185;0.0225)|Breast(139;0.14) all cancers(112;0.00389)|Epithelial(112;0.0266)|OV - Ovarian serous cystadenocarcinoma(117;0.0717)|Lung(94;0.207)|GBM - Glioblastoma multiforme(144;0.232) TGTAGTAAGGGGGGTCCCAGG 0.403000 17 17 0 0 9.7654e-05 0 0 PIK3C2G 5288 broad.mit.edu 37 12 18800921 18800921 + Missense_Mutation SNP G A A TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr12:18800921G>A uc001rdt.3 + 31 4413 c.4297G>A c.(4297-4299)Gat>Aat p.D1433N PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Missense_Mutation_p.D1474N|PIK3C2G_uc010sic.2_Missense_Mutation_p.D1252N NM_004570 NP_004561 O75747 P3C2G_HUMAN Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA. 1433 cell communication|phosphatidylinositol-mediated signaling membrane|phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1) 66 Hepatocellular(102;0.194) TGTCCCACTCGATAAAGAAAA 0.358000 18 14 0 0 0.000219431 0 0 TSPAN12 23554 broad.mit.edu 37 7 120446649 120446649 + Missense_Mutation SNP C T T TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr7:120446649C>T uc003vjk.3 - 6 940 c.566G>A c.(565-567)tGt>tAt p.C189Y TSPAN12_uc010lkj.3_Missense_Mutation_p.C62Y NM_012338 NP_036470 O95859 TSN12_HUMAN Homo sapiens tetraspanin 12 (TSPAN12), mRNA. 189 angiogenesis|cell surface receptor linked signaling pathway|regulation of angiogenesis|retina layer formation integral to plasma membrane|membrane fraction endometrium(3)|kidney(1)|lung(4)|ovary(1)|skin(1) 10 all_neural(327;0.117) CTGTTTGGAACATCCTGGGAA 0.418000 39 21 0 0 0.000375601 0 0 SETD2 29072 broad.mit.edu 37 3 47155463 47155463 + Missense_Mutation SNP A G G TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr3:47155463A>G uc003cqv.3 - 4 4671 c.4585T>C c.(4585-4587)Tcc>Ccc p.S1529P SETD2_uc003cqs.3_Missense_Mutation_p.S1540P NM_014159 NP_054878 Q9BYW2 SETD2_HUMAN Homo sapiens SET domain containing 2 (SETD2), mRNA. 1540 AWS. regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5) 141 Acute lymphoblastic leukemia(5;0.0169) BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844) CGTCTATTGGAACAATAATCC 0.393000 """N, F, S, Mis""" clear cell renal carcinoma 66 20 0 0 0.000375601 0 0 LOC440563 440563 broad.mit.edu 37 1 13183615 13183615 + Silent SNP T C C TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr1:13183615T>C uc010obg.2 - 1 501 c.258A>G c.(256-258)gcA>gcG p.A86A NM_001136561 NP_001130033 B2RXH8 B2RXH8_HUMAN Homo sapiens heterogeneous nuclear ribonucleoprotein C-like (LOC440563), mRNA. 86 ribonucleoprotein complex nucleic acid binding|nucleotide binding CTTTTGGCTCTGCAGCCAGGT 0.493000 51 4 0 0 0.00024832 0 0 EVPL 2125 broad.mit.edu 37 17 74015056 74015056 + Missense_Mutation SNP C T T TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr17:74015056C>T uc010wss.1 - 10 1451 c.1223G>A c.(1222-1224)cGa>cAa p.R408Q EVPL_uc002jqi.2_Missense_Mutation_p.R408Q|EVPL_uc010wst.1_5'UTR NM_001988 NP_001979 Q92817 EVPL_HUMAN Homo sapiens envoplakin (EVPL), mRNA. 408 Globular 1. keratinization|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural molecule activity breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 54 GGGGTTTCTTCGCTGTGGCAG 0.682000 16 11 0 0 0.000219431 0 0 ZNF304 57343 broad.mit.edu 37 19 57867735 57867735 + Silent SNP C T T TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr19:57867735C>T uc010etw.3 + 3 1027 c.639C>T c.(637-639)tcC>tcT p.S213S ZNF304_uc010ygw.2_Silent_p.S166S|ZNF304_uc010etx.3_Silent_p.S124S NM_020657 NP_065708 Q9HCX3 ZN304_HUMAN Homo sapiens zinc finger protein 304 (ZNF304), mRNA. 166 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1) 26 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265) TAGGGAGATCCTTTACGTGCA 0.498000 27 10 0 0 3.86212e-05 0 0 CDH18 1016 broad.mit.edu 37 5 19483630 19483630 + Silent SNP C T T TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr5:19483630C>T uc003jgd.3 - 11 2196 c.1662G>A c.(1660-1662)agG>agA p.R554R CDH18_uc011cnm.2_Intron|CDH18_uc003jgc.3_Silent_p.R554R|CDH18_uc021xwu.1_Intron NM_004934 NP_004925 Q13634 CAD18_HUMAN Homo sapiens cadherin 18, type 2 (CDH18), transcript variant 1, mRNA. 554 Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1) 138 Lung NSC(1;0.00734)|all_lung(1;0.0197) GACTAAATCTCCTCCGCCTTG 0.443000 26 19 0 0 0.000375601 0 0 TMEM132B 114795 broad.mit.edu 37 12 125834771 125834771 + Missense_Mutation SNP G A A TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr12:125834771G>A uc001uhe.1 + 1 834 c.826G>A c.(826-828)Gtg>Atg p.V276M TMEM132B_uc021rgl.1_Missense_Mutation_p.V166M NM_052907 NP_443139 Q14DG7 T132B_HUMAN Homo sapiens transmembrane protein 132B (TMEM132B), mRNA. 276 integral to membrane NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1) 107 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362) GTGGTCCCTGGTGAGCTTGGA 0.582000 93 59 0 0 0.000147903 0 0 TRAPPC9 83696 broad.mit.edu 37 8 141231633 141231633 + Silent SNP G A A TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr8:141231633G>A uc003yvh.2 - 16 2790 c.2775C>T c.(2773-2775)gtC>gtT p.V925V TRAPPC9_uc003yvj.2_Silent_p.V827V|TRAPPC9_uc010mel.1_Silent_p.V248V|TRAPPC9_uc003yvi.1_Silent_p.V818V NM_031466 NP_001153844 Q96Q05 TPPC9_HUMAN Homo sapiens trafficking protein particle complex 9 (TRAPPC9), transcript variant 1, mRNA. 827 cell differentiation Golgi apparatus|endoplasmic reticulum breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 47 GGGGCCGAACGACCTGCCGAA 0.522000 16 25 0 0 0.000586117 0 0 ADORA2A 135 broad.mit.edu 37 22 24829686 24829686 + Missense_Mutation SNP C T T TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr22:24829686C>T uc002zzx.3 + 3 1077 c.314C>T c.(313-315)gCc>gTc p.A105V SPECC1L_uc021wne.1_Non-coding_Transcript|ADORA2A_uc002zzy.4_Missense_Mutation_p.A105V|ADORA2A_uc021wng.1_3'UTR|ADORA2A_uc011ajs.2_Intron|C22orf45_uc002zzz.2_Intron|ADORA2A_uc010guo.1_3'UTR|ADORA2A_uc010guq.3_Missense_Mutation_p.A105V|ADORA2A_uc010gup.3_Missense_Mutation_p.A105V|ADORA2A_uc003aab.3_Missense_Mutation_p.A105V NM_000675 NP_000666 P29274 AA2AR_HUMAN Homo sapiens adenosine A2a receptor (ADORA2A), mRNA. 105 apoptosis|blood coagulation|cAMP biosynthetic process|cellular defense response|inflammatory response|nerve growth factor receptor signaling pathway|phagocytosis|sensory perception integral to plasma membrane|membrane fraction enzyme binding breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|skin(1) 21 Colorectal(2;0.196) Caffeine(DB00201)|Defibrotide(DB04932)|Pegademase bovine(DB00061)|Theophylline(DB00277) CGCTACATTGCCATCCGCATC 0.632000 30 9 0 0 6.40141e-05 0 0 CDR1 1038 broad.mit.edu 37 X 139866084 139866084 + Nonsense_Mutation SNP T A A TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chrX:139866084T>A uc004fbg.1 - 0 640 c.448A>T c.(448-450)Aga>Tga p.R150* AK054921_uc004fbf.1_Non-coding_Transcript NM_004065 NP_004056 P51861 CDR1_HUMAN Homo sapiens cerebellar degeneration-related protein 1, 34kDa (CDR1), mRNA. 150 6 X 6 AA approximate repeats. breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1) 25 Acute lymphoblastic leukemia(192;7.65e-05) Lung SC(4;0.051) AATCTACGTCTTCCAAAAAAG 0.438000 27 89 0 0 0.000147903 0 0 PCDHB1 29930 broad.mit.edu 37 5 140432780 140432780 + Silent SNP C T T TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr5:140432780C>T uc003lik.1 + 0 1802 c.1725C>T c.(1723-1725)gaC>gaT p.D575D NM_013340 NP_037472 Q9Y5F3 PCDB1_HUMAN Homo sapiens protocadherin beta 1 (PCDHB1), mRNA. 575 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 53 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCTGCAATGACCTGGTGCCCA 0.493000 47 9 0 0 0.000274275 0 0 SCN5A 6331 broad.mit.edu 37 3 38601660 38601660 + Missense_Mutation SNP C T T TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr3:38601660C>T uc021wvo.1 - 21 4275 c.4223G>A c.(4222-4224)gGg>gAg p.G1408E SCN5A_uc021wvk.1_Missense_Mutation_p.G1407E|SCN5A_uc021wvl.1_Missense_Mutation_p.G1354E|SCN5A_uc021wvm.1_Missense_Mutation_p.G1408E|SCN5A_uc021wvn.1_Missense_Mutation_p.G1407E|SCN5A_uc021wvp.1_Missense_Mutation_p.G1408E|SCN5A_uc021wvq.1_Missense_Mutation_p.G1407E|SCN5A_uc021wvr.1_Missense_Mutation_p.G1408E|SCN5A_uc021wvs.1_Missense_Mutation_p.G1408E|SCN5A_uc021wvt.1_Missense_Mutation_p.G1407E|SCN5A_uc021wvu.1_Missense_Mutation_p.G1354E|SCN5A_uc021wvv.1_Missense_Mutation_p.G1408E|SCN5A_uc021wvj.1_Missense_Mutation_p.G1220E|SCN5A_uc021wvi.1_Missense_Mutation_p.G1274E|SCN5A_uc021wvw.1_Missense_Mutation_p.G1018E NM_198056 NP_932173 Q14524 SCN5A_HUMAN Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA. 1408 G -> R (in SSS1 and BRS1; also in cardiac conduction defect; dbSNP:rs28936971). blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4) 107 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) GGCCAGGTACCCGGCCCCCAC 0.542000 4 4 0 0 1.23904e-05 0 0 OR2M2 391194 broad.mit.edu 37 1 248343804 248343804 + Missense_Mutation SNP G A A TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr1:248343804G>A uc010pzf.2 + 0 517 c.517G>A c.(517-519)Gaa>Aaa p.E173K NM_001004688 NP_001004688 Q96R28 OR2M2_HUMAN Homo sapiens olfactory receptor, family 2, subfamily M, member 2 (OR2M2), mRNA. 173 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R172Q(1) NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3) 70 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) TGGGTCTCGGGAAATAGCCCA 0.418000 140 67 0 0 0.000147903 0 0 DSC3 1825 broad.mit.edu 37 18 28604330 28604330 + Missense_Mutation SNP C T T TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr18:28604330C>T uc002kwj.4 - 5 915 c.760G>A c.(760-762)Gaa>Aaa p.E254K DSC3_uc002kwi.4_Missense_Mutation_p.E254K NM_001941 NP_001932 Q14574 DSC3_HUMAN Homo sapiens desmocollin 3 (DSC3), transcript variant Dsc3a, mRNA. 254 Cadherin 2. homophilic cell adhesion|protein stabilization desmosome|integral to membrane|membrane fraction calcium ion binding|gamma-catenin binding endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 OV - Ovarian serous cystadenocarcinoma(10;0.125) CTACTACTTTCCAAAACTTCA 0.348000 36 16 0 0 0.000132079 0 0 NAA35 60560 broad.mit.edu 37 9 88577022 88577022 + Missense_Mutation SNP C T T TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr9:88577022C>T uc004aoi.4 + 5 580 c.443C>T c.(442-444)gCt>gTt p.A148V NAA35_uc004aoj.4_Missense_Mutation_p.A148V|NAA35_uc004aok.1_Missense_Mutation_p.A148V NM_024635 NP_078911 Q5VZE5 NAA35_HUMAN Homo sapiens N(alpha)-acetyltransferase 35, NatC auxiliary subunit (NAA35), mRNA. 148 smooth muscle cell proliferation cytoplasm|nucleus|plasma membrane central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(9)|ovary(2)|skin(2)|urinary_tract(1) 25 GCTATGAAGGCTTTTGCTCTG 0.368000 15 20 0 0 0.000175454 0 0 ADH6 130 broad.mit.edu 37 4 100137326 100137326 + Missense_Mutation SNP G A A TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr4:100137326G>A uc003huo.2 - 1 206 c.112C>T c.(112-114)Cgc>Tgc p.R38C LOC100507053_uc003hum.2_Intron|ADH6_uc011cef.1_5'UTR|ADH6_uc003hup.4_Missense_Mutation_p.R38C|ADH6_uc010ile.3_Missense_Mutation_p.R38C NM_001102470 NP_001095940 P28332 ADH6_HUMAN Homo sapiens alcohol dehydrogenase 6 (class V) (ADH6), transcript variant 1, mRNA. 38 ethanol oxidation|response to ethanol|xenobiotic metabolic process cytosol alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2) 20 OV - Ovarian serous cystadenocarcinoma(123;3.58e-08) Abacavir(DB01048)|NADH(DB00157) ACCTTTATGCGAACTTCCTTT 0.393000 47 22 0 0 0.000375601 0 0 EPRS 2058 broad.mit.edu 37 1 220153506 220153506 + Missense_Mutation SNP G A A TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr1:220153506G>A uc001hly.1 - 25 3902 c.3632C>T c.(3631-3633)aCg>aTg p.T1211M RNU5F-1_uc021pjd.1_Intron NM_004446 NP_004437 P07814 SYEP_HUMAN Homo sapiens glutamyl-prolyl-tRNA synthetase (EPRS), mRNA. 1211 Prolyl-tRNA synthetase. glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly cytosol|soluble fraction ATP binding|RNA binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3) 63 GBM - Glioblastoma multiforme(131;0.0735) L-Glutamic Acid(DB00142)|L-Proline(DB00172) TTCCTTTTCCGTCTTTCTTCC 0.373000 72 56 0 0 0.000147903 0 0 KCNJ10 3766 broad.mit.edu 37 1 160011861 160011861 + Silent SNP G A A TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr1:160011861G>A uc001fuw.2 - 1 702 c.462C>T c.(460-462)acC>acT p.T154T NM_002241 NP_002232 P78508 IRK10_HUMAN Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 10 (KCNJ10), mRNA. 154 integral to plasma membrane ATP binding|ATP-activated inward rectifier potassium channel activity p.L153P(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1) 17 all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) CCAGGATGGTGGTGAGCACCA 0.537000 43 41 0 0 0.000589545 0 0 ZFR2 23217 broad.mit.edu 37 19 3834900 3834900 + Silent SNP C T T TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr19:3834900C>T uc002lyw.2 - 1 147 c.135G>A c.(133-135)gtG>gtA p.V45V ZFR2_uc010xhx.1_Non-coding_Transcript NM_015174 NP_055989 Q9UPR6 ZFR2_HUMAN Homo sapiens zinc finger RNA binding protein 2 (ZFR2), transcript variant 1, mRNA. 45 intracellular nucleic acid binding|zinc ion binding central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1) 16 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19) AGGCCGGGTTCACGGCAGGGT 0.677000 6 4 0 0 0.00024832 0 0 RUNX1T1 862 broad.mit.edu 37 8 93023292 93023292 + Missense_Mutation SNP G A A TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr8:93023292G>A uc022axs.1 - 4 860 c.673C>T c.(673-675)Cat>Tat p.H225Y RUNX1T1_uc003yfc.2_Missense_Mutation_p.H139Y|RUNX1T1_uc010mam.3_Missense_Mutation_p.H139Y|RUNX1T1_uc003yfe.2_Missense_Mutation_p.H129Y|RUNX1T1_uc003yfd.3_Missense_Mutation_p.H166Y|RUNX1T1_uc022axo.1_Missense_Mutation_p.H166Y|RUNX1T1_uc010mao.3_Missense_Mutation_p.H139Y|RUNX1T1_uc011lgi.2_Missense_Mutation_p.H177Y|RUNX1T1_uc022axp.1_Missense_Mutation_p.H166Y|RUNX1T1_uc022axq.1_Missense_Mutation_p.H166Y|RUNX1T1_uc022axr.1_Missense_Mutation_p.H166Y|RUNX1T1_uc022axt.1_Missense_Mutation_p.H166Y|RUNX1T1_uc022axu.1_Missense_Mutation_p.H146Y|RUNX1T1_uc022axv.1_Missense_Mutation_p.H166Y|RUNX1T1_uc003yfb.2_Missense_Mutation_p.H129Y|RUNX1T1_uc003yff.1_Missense_Mutation_p.H129Y|RUNX1T1_uc003yfg.2_Missense_Mutation_p.H129Y NM_001198679 NP_001185608 Q06455 MTG8_HUMAN Homo sapiens runt-related transcription factor 1; translocated to, 1 (cyclin D-related) (RUNX1T1), transcript variant 15, mRNA. 166 generation of precursor metabolites and energy nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2) 86 BRCA - Breast invasive adenocarcinoma(11;0.0141) AGTTTGGAATGAAATTCTTCA 0.318000 54 62 0 0 0.000147903 0 0 PRR14 78994 broad.mit.edu 37 16 30666248 30666249 + Missense_Mutation DNP CC TT TT TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr16:30666248_30666249CC>TT uc002dyy.3 + 7 1215_1216 c.957_958CC>TT c.(955-960)acccca>acTTca p.P320S PRR14_uc002dyz.3_Missense_Mutation_p.P165S|PRR14_uc002dza.3_Missense_Mutation_p.P320S|PRR14_uc002dzb.1_Missense_Mutation_p.P134S NM_024031 NP_076936 Q9BWN1 PRR14_HUMAN Homo sapiens proline rich 14 (PRR14), mRNA. 320 Pro-rich. breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1) 18 Colorectal(24;0.103) ACCACAATACCCCAGCACTTCT 0.668000 23 9 0 0 6.4e-05 0 0 VIL1 7429 broad.mit.edu 37 2 219299365 219299365 + Silent SNP C T T TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr2:219299365C>T uc002vib.3 + 12 1639 c.1617C>T c.(1615-1617)ttC>ttT p.F539F VIL1_uc010zke.2_Silent_p.F228F|VIL1_uc002via.3_Silent_p.F539F NM_007127 NP_009058 P09327 VILI_HUMAN Homo sapiens villin 1 (VIL1), mRNA. 539 Core. actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Renal(207;0.0474) Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GGGCCAATTTCCTCAATTCCA 0.562000 34 15 0 0 0.000308642 0 0 DGKH 160851 broad.mit.edu 37 13 42763258 42763258 + Silent SNP C T T TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr13:42763258C>T uc001uyl.2 + 14 1792 c.1725C>T c.(1723-1725)agC>agT p.S575S DGKH_uc010tfh.2_Silent_p.S575S|DGKH_uc001uym.2_Silent_p.S575S|DGKH_uc001uyn.2_Non-coding_Transcript|DGKH_uc010tfi.2_Silent_p.S330S|DGKH_uc001uyo.2_Silent_p.S439S|DGKH_uc010tfj.2_Silent_p.S439S|DGKH_uc001uyp.3_Non-coding_Transcript NM_178009 NP_821077 Q86XP1 DGKH_HUMAN Homo sapiens diacylglycerol kinase, eta (DGKH), transcript variant 2, mRNA. 575 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization endosome|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109) CTGGCCTCAGCCCTCTCATTG 0.522000 40 23 0 0 0.000295444 0 0 RPP40 10799 broad.mit.edu 37 6 4996556 4996556 + Missense_Mutation SNP G A A TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr6:4996556G>A uc003mwl.3 - 5 693 c.658C>T c.(658-660)Cca>Tca p.P220S RPP40_uc003mwm.3_Missense_Mutation_p.P197S NM_006638 NP_006629 O75818 RPP40_HUMAN Homo sapiens ribonuclease P/MRP 40kDa subunit (RPP40), mRNA. 220 tRNA processing nucleolar ribonuclease P complex protein binding|ribonuclease P activity NS(1)|breast(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|urinary_tract(1) 14 Ovarian(93;0.11) all_hematologic(90;0.0895) TGCAGCACTGGGCACTGGAGA 0.537000 54 21 0 0 0.000132079 0 0 USH2A 7399 broad.mit.edu 37 1 215914870 215914870 + Missense_Mutation SNP C T T TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr1:215914870C>T uc001hku.1 - 59 11945 c.11558G>A c.(11557-11559)gGa>gAa p.G3853E NM_206933 NP_996816 O75445 USH2A_HUMAN Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA. 3853 Fibronectin type-III 23. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) ACTGCTAACTCCACAACTTCC 0.358000 HNSCC(13;0.011) 68 34 0 0 0.00058488 0 0 MNDA 4332 broad.mit.edu 37 1 158813902 158813902 + Missense_Mutation SNP C T T TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr1:158813902C>T uc001fsz.1 + 3 760 c.560C>T c.(559-561)tCg>tTg p.S187L NM_002432 NP_002423 P41218 MNDA_HUMAN Homo sapiens myeloid cell nuclear differentiation antigen (MNDA), mRNA. 187 B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent cytoplasm|nucleus DNA binding NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 all_hematologic(112;0.0378) TCCAACACTTCGTTTACTCCG 0.493000 53 35 0 0 0.000159656 0 0 ANK1 286 broad.mit.edu 37 8 41550337 41550337 + Silent SNP C T T TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr8:41550337C>T uc003xok.3 - 30 3771 c.3687G>A c.(3685-3687)ctG>ctA p.L1229L NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.3_Silent_p.L545L|ANK1_uc003xoi.3_Silent_p.L1229L|ANK1_uc003xoj.3_Silent_p.L1229L|ANK1_uc003xol.3_Silent_p.L1229L|ANK1_uc003xom.3_Silent_p.L1270L NM_020476 NP_065209 P16157 ANK1_HUMAN Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA. 1229 axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 122 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) GCTCTTTGTACAGCAGGGTGG 0.542000 138 62 0 0 0.000147903 0 0 LSR 51599 broad.mit.edu 37 19 35741388 35741388 + Missense_Mutation SNP C T T TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr19:35741388C>T uc002nyl.3 + 1 647 c.424C>T c.(424-426)Ccg>Tcg p.P142S LSR_uc010xsr.2_Missense_Mutation_p.P142S|LSR_uc002nym.3_Missense_Mutation_p.P142S|LSR_uc002nyn.3_Missense_Mutation_p.P142S|LSR_uc002nyo.3_Missense_Mutation_p.P142S|LSR_uc002nyp.3_Missense_Mutation_p.P105S NM_205834 NP_991403 Q86X29 LSR_HUMAN Homo sapiens lipolysis stimulated lipoprotein receptor (LSR), transcript variant 2, mRNA. 142 Ig-like V-type. embryo development|liver development chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle receptor activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 13 all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162) Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417) TGCCTTCTCCCCGGCCAGCGT 0.632000 33 17 0 0 7.07596e-05 0 0 GRIN2B 2904 broad.mit.edu 37 12 13716597 13716597 + Missense_Mutation SNP C T T TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr12:13716597C>T uc001rbt.2 - 12 3754 c.3575G>A c.(3574-3576)gGg>gAg p.G1192E NM_000834 NP_000825 Q13224 NMDE2_HUMAN Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA. 1192 response to ethanol N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1) 143 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) TGCAGGTACCCCGCTGACCAC 0.617000 36 29 0 0 0.000491102 0 0 SALL1 6299 broad.mit.edu 37 16 51174059 51174059 + Nonsense_Mutation SNP G A A TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr16:51174059G>A uc021tif.1 - 1 2105 c.1783C>T c.(1783-1785)Cag>Tag p.Q595* SALL1_uc021tid.1_Nonsense_Mutation_p.Q595*|SALL1_uc021tie.1_Nonsense_Mutation_p.Q692*|SALL1_uc010cbv.3_Intron NM_001127892 NP_001121364 Q9NSC2 SALL1_HUMAN Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA. 692 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus DNA binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 126 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) ACCAGTTGCTGAAGCTTGGAC 0.532000 71 46 0 0 0.000147903 0 0 ITGAL 3683 broad.mit.edu 37 16 30510810 30510810 + Splice_Site SNP G A A TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr16:30510810G>A uc002dyi.4 + 17 2321 c.2145_splice c.e17+1 p.P715_splice ITGAL_uc002dyj.4_Splice_Site_p.P632_splice|ITGAL_uc010vev.2_Splice_Site_p.P111_splice NM_002209 NP_002200 P20701 ITAL_HUMAN Homo sapiens integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) (ITGAL), transcript variant 1, mRNA. 715 T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response integrin complex cell adhesion molecule binding|receptor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 76 Efalizumab(DB00095) TTCATTTCCCGGTAAGGGAGC 0.557000 36 22 0 0 0.000229342 0 0 PEG3 5178 broad.mit.edu 37 19 57328917 57328917 + Missense_Mutation SNP G A A TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr19:57328917G>A uc002qnu.2 - 6 1244 c.893C>T c.(892-894)tCa>tTa p.S298L PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.S269L|PEG3_uc002qnv.2_Missense_Mutation_p.S298L|PEG3_uc002qnw.2_Missense_Mutation_p.S174L|PEG3_uc002qnx.2_Missense_Mutation_p.S172L|PEG3_uc010etr.2_Missense_Mutation_p.S298L NM_001146186 NP_001139657 Q9GZU2 PEG3_HUMAN Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA. 298 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6) 170 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) CCGGTGGGTTGATTTTTTGGC 0.468000 61 40 0 0 0.000147903 0 0 PCDHB4 56131 broad.mit.edu 37 5 140503831 140503831 + Missense_Mutation SNP G A A TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr5:140503831G>A uc003lip.1 + 0 2251 c.2251G>A c.(2251-2253)Gag>Aag p.E751K NM_018938 NP_061761 Q9Y5E5 PCDB4_HUMAN Homo sapiens protocadherin beta 4 (PCDHB4), mRNA. 751 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton calcium ion binding autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 67 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CTACCAGTACGAGGTGTGTCT 0.597000 45 31 0 0 0.000409698 0 0 CCDC105 126402 broad.mit.edu 37 19 15132664 15132664 + Missense_Mutation SNP G A A TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr19:15132664G>A uc002nae.2 + 5 1283 c.1184G>A c.(1183-1185)aGa>aAa p.R395K NM_173482 NP_775753 Q8IYK2 CC105_HUMAN Homo sapiens coiled-coil domain containing 105 (CCDC105), mRNA. 395 microtubule cytoskeleton organization microtubule NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2) 23 AAGCTGGACAGACCCCTGGTT 0.642000 13 14 0 0 0.000566183 0 0 IL31RA 133396 broad.mit.edu 37 5 55155392 55155392 + Nonsense_Mutation SNP G A A TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr5:55155392G>A uc003jql.3 + 1 311 c.119G>A c.(118-120)tGg>tAg p.W40* IL31RA_uc003jqk.3_Nonsense_Mutation_p.W40*|IL31RA_uc011cqj.2_5'UTR|IL31RA_uc003jqm.3_Nonsense_Mutation_p.W21*|IL31RA_uc003jqn.3_Nonsense_Mutation_p.W40*|IL31RA_uc010iwa.1_Nonsense_Mutation_p.W8*|IL31RA_uc021xyq.1_Nonsense_Mutation_p.W21*|IL31RA_uc003jqo.3_5'UTR NM_139017 NP_001229568 Q8NI17 IL31R_HUMAN Homo sapiens interleukin 31 receptor A (IL31RA), transcript variant 1, mRNA. 8 Fibronectin type-III 1. JAK-STAT cascade|MAPKKK cascade|anti-apoptosis|defense response|homeostatic process|macrophage differentiation|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway integral to membrane|plasma membrane cytokine receptor activity|protein kinase binding|transcription coactivator activity endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1) 21 Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223) TGGGCACTGTGGATGCTCCCC 0.473000 48 35 0 0 0.000374591 0 0 WRAP73 49856 broad.mit.edu 37 1 3551763 3551763 + Silent SNP G A A TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr1:3551763G>A uc001ako.3 - 6 807 c.699C>T c.(697-699)ccC>ccT p.P233P WRAP73_uc001akn.3_Silent_p.P233P|WRAP73_uc010nzi.2_3'UTR NM_017818 NP_060288 Q9P2S5 WRP73_HUMAN Homo sapiens WD repeat containing, antisense to TP73 (WRAP73), mRNA. 233 centrosome protein binding endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1) 12 ACTGACTGCTGGGGCTCCAGG 0.602000 15 10 0 0 0.00010058 0 0 TTN 7273 broad.mit.edu 37 2 179422801 179422801 + Missense_Mutation SNP C T T TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr2:179422801C>T uc021vsy.1 - 276 79801 c.79576G>A c.(79576-79578)Gaa>Aaa p.E26526K MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E20221K|TTN_uc021vta.1_Missense_Mutation_p.E20154K|TTN_uc021vtb.1_Missense_Mutation_p.E20029K NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 27453 Fibronectin type-III 93. 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) GCAGTAATTTCGGTATTAAAT 0.428000 88 31 0 0 0.000339439 0 0 LRP6 4040 broad.mit.edu 37 12 12302058 12302059 + Missense_Mutation DNP CG AT AT TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr12:12302058_12302059CG>AT uc001rah.4 - 13 3165_3166 c.3023_3024CG>AT c.(3022-3024)ccg>cAT p.P1008H BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Missense_Mutation_p.P1008H NM_002336 NP_002327 O75581 LRP6_HUMAN Homo sapiens low density lipoprotein receptor-related protein 6 (LRP6), mRNA. 1008 Beta-propeller 4. Wnt receptor signaling pathway involved in dorsal/ventral axis specification|cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane Wnt-protein binding|coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity p.P1008L(3)|p.P1008S(1) breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 85 Prostate(47;0.0865) GGTTCTGACTCGGAACTGAGCT 0.431000 312 10 0 0 6.4e-05 0 0 ISLR2 57611 broad.mit.edu 37 15 74425238 74425238 + Missense_Mutation SNP G A A TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr15:74425238G>A uc002axd.3 + 3 912 c.143G>A c.(142-144)gGa>gAa p.G48E ISLR2_uc002axe.3_Missense_Mutation_p.G48E|ISLR2_uc010bjg.3_Missense_Mutation_p.G48E|ISLR2_uc010bjf.3_Missense_Mutation_p.G48E|ISLR2_uc021sqe.1_Missense_Mutation_p.G48E NM_001130136 NP_065902 Q6UXK2 ISLR2_HUMAN Homo sapiens immunoglobulin superfamily containing leucine-rich repeat 2 (ISLR2), transcript variant 1, mRNA. 48 LRRNT. positive regulation of axon extension cell surface|integral to membrane|plasma membrane breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 36 GTGCCGGAAGGACTGCCTGCC 0.642000 29 12 0 0 0.000151284 0 0 ODZ3 55714 broad.mit.edu 37 4 183245230 183245230 + Silent SNP G A A TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr4:183245230G>A uc003ivd.1 + 0 132 c.57G>A c.(55-57)aaG>aaA p.K19K ODZ3_uc021xux.1_Silent_p.K19K|ODZ3_uc010irv.1_Silent_p.K19K NM_001080477 NP_001073946 Q9P273 TEN3_HUMAN Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA. 19 Teneurin N-terminal. signal transduction integral to membrane NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4) 129 all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184) all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487) GACGAGAGAAGGAACGGCGCT 0.507000 26 9 0 0 0.000442599 0 0 IL23R 149233 broad.mit.edu 37 1 67635191 67635191 + Silent SNP G A A TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr1:67635191G>A uc001ddo.3 + 2 322 c.237G>A c.(235-237)agG>agA p.R79R IL23R_uc009waz.3_5'UTR|IL23R_uc001ddp.2_Non-coding_Transcript|IL23R_uc010opi.2_Non-coding_Transcript|IL23R_uc010opj.2_5'UTR|IL23R_uc010opk.2_Silent_p.R36R|IL23R_uc010opl.2_5'UTR|IL23R_uc010opm.2_Non-coding_Transcript|IL23R_uc001ddq.3_5'UTR|IL23R_uc010opn.2_5'UTR|IL23R_uc001ddr.3_Non-coding_Transcript NM_144701 NP_653302 Q5VWK5 IL23R_HUMAN Homo sapiens interleukin 23 receptor (IL23R), mRNA. 79 inflammatory response|negative regulation of interleukin-10 production|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of interleukin-12 production|positive regulation of memory T cell differentiation|response to interferon-gamma|response to lipopolysaccharide interleukin-23 receptor complex receptor activity breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 21 AAATCACAAGGATTAATAAAA 0.348000 87 47 0 0 0.000147903 0 0 CRYZ 1429 broad.mit.edu 37 1 75172593 75172593 + Missense_Mutation SNP G A A TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr1:75172593G>A uc001dgk.3 - 8 1323 c.818C>T c.(817-819)tCc>tTc p.S273F CRYZ_uc001dgj.3_Missense_Mutation_p.S273F|CRYZ_uc001dgl.3_Missense_Mutation_p.S239F|CRYZ_uc001dgm.3_Missense_Mutation_p.S136F NM_001130042 NP_001880 Q08257 QOR_HUMAN Homo sapiens crystallin, zeta (quinone reductase) (CRYZ), transcript variant 1, mRNA. 273 protein homotetramerization|visual perception|xenobiotic catabolic process Golgi apparatus|cytosol NADPH binding|NADPH:quinone reductase activity|mRNA 3'-UTR binding|zinc ion binding NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5) 10 Dicumarol(DB00266) CTTGGTTGAGGAAAAGAGAGT 0.383000 99 71 0 0 0.000147903 0 0 CSF2RB 1439 broad.mit.edu 37 22 37334241 37334241 + Silent SNP G A A TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr22:37334241G>A uc003aqa.4 + 13 2608 c.2391G>A c.(2389-2391)ggG>ggA p.G797G CSF2RB_uc003aqc.4_Silent_p.G803G NM_000395 NP_000386 P32927 IL3RB_HUMAN Homo sapiens colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) (CSF2RB), mRNA. 797 respiratory gaseous exchange granulocyte macrophage colony-stimulating factor receptor complex cytokine receptor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2) 42 Sargramostim(DB00020) TGAACCCAGGGGAACGCCCGG 0.652000 16 12 0 0 0.000422831 0 0 RYR1 6261 broad.mit.edu 37 19 38985160 38985160 + Missense_Mutation SNP C T T TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr19:38985160C>T uc002oit.3 + 38 6573 c.6443C>T c.(6442-6444)tCc>tTc p.S2148F RYR1_uc002oiu.3_Missense_Mutation_p.S2148F|RYR1_uc002oiv.1_5'Flank NM_000540 NP_000531 P21817 RYR1_HUMAN Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA. 2148 6 X approximate repeats. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) TCACCGTCCTCCGTGGAAGAC 0.662000 16 15 0 0 0.000219431 0 0 FAT3 120114 broad.mit.edu 37 11 92523143 92523143 + Missense_Mutation SNP G A A TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr11:92523143G>A uc001pdj.4 + 6 4387 c.4370G>A c.(4369-4371)gGc>gAc p.G1457D NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA. 1457 Cadherin 13. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) AATGATAATGGCCCAGAATTC 0.398000 TCGA Ovarian(4;0.039) 195 123 0 0 0.000147903 0 0 LAMA2 3908 broad.mit.edu 37 6 129636925 129636925 + Missense_Mutation SNP A G G TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr6:129636925A>G uc021zfb.1 + 25 3859 c.3754A>G c.(3754-3756)Aaa>Gaa p.K1252E LAMA2_uc003qbn.3_Missense_Mutation_p.K1252E|LAMA2_uc003qbo.3_Missense_Mutation_p.K1252E NM_000426 NP_000417 P24043 LAMA2_HUMAN Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA. 1252 Laminin IV type A 2. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2) 194 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) CTATGGGGGCAAACTCAAGTA 0.388000 17 45 0 0 0.000147903 0 0 FCRLA 84824 broad.mit.edu 37 1 161677088 161677088 + Missense_Mutation SNP C T T TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr1:161677088C>T uc001gbe.3 + 0 327 c.85C>T c.(85-87)Ctc>Ttc p.L29F FCRLA_uc001gbg.3_Missense_Mutation_p.L29F|FCRLA_uc009wup.3_Missense_Mutation_p.L29F|FCRLA_uc009wuq.3_Missense_Mutation_p.L29F|FCRLA_uc001gbd.3_Missense_Mutation_p.L29F|FCRLA_uc001gbf.3_Missense_Mutation_p.L29F|FCRLA_uc009wuo.3_Missense_Mutation_p.L29F NM_001184866 NP_001171795 Q7L513 FCRLA_HUMAN Homo sapiens Fc receptor-like A (FCRLA), transcript variant 1, mRNA. 12 cell differentiation cytoplasm|extracellular region p.A28D(1) breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1) 34 all_cancers(52;2.55e-15)|all_hematologic(112;0.0359) BRCA - Breast invasive adenocarcinoma(70;0.00301) GGCCTGGGCCCTCTACCTTTC 0.488000 20 12 0 0 0.00010058 0 0 OVOS2 0 broad.mit.edu 37 12 31353379 31353379 + Silent SNP G A A TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr12:31353379G>A uc010sjy.1 - 2 351 c.351C>T c.(349-351)ccC>ccT p.P117P RecName: Full=Ovostatin homolog 2; Flags: Precursor; p.P117P(1) all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233) GCTTGTAGGTGGGTTTATCAG 0.413000 10 13 0 0 0.000566183 0 0 TMEM57 55219 broad.mit.edu 37 1 25784926 25784926 + Missense_Mutation SNP C A A TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr1:25784926C>A uc001bkk.3 + 5 899 c.697C>A c.(697-699)Cac>Aac p.H233N TMEM57_uc009vru.3_Intron|TMEM57_uc009vrv.3_Intron|TMEM57_uc009vrt.2_Non-coding_Transcript NM_018202 NP_060672 Q8N5G2 MACOI_HUMAN Homo sapiens transmembrane protein 57 (TMEM57), mRNA. 233 axon|integral to membrane|neuron projection terminus|nuclear membrane|synapse part breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 27 Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201) UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649) CCTTATACACCACAATGGAGG 0.403000 189 11 0.000151284 0.00288083 0.000151284 1 0 LEPREL1 55214 broad.mit.edu 37 3 189681802 189681803 + Missense_Mutation DNP CC TT TT TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr3:189681802_189681803CC>TT uc011bsk.2 - 13 2366_2367 c.1978_1979GG>AA c.(1978-1980)gga>AAa p.G660K LEPREL1_uc003fsg.3_Missense_Mutation_p.G479K NM_018192 NP_001127890 Q8IVL5 P3H2_HUMAN Homo sapiens leprecan-like 1 (LEPREL1), transcript variant 1, mRNA. 660 Fe2OG dioxygenase. collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation Golgi apparatus|basement membrane|endoplasmic reticulum L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5) 41 all_cancers(143;4.01e-10)|Ovarian(172;0.0925) Lung(62;4.35e-05) GBM - Glioblastoma multiforme(93;0.02) L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126) ACACCTCTTTCCCTTGGTGACT 0.495000 35 34 0 0 6.4e-05 0 0 FHL1 2273 broad.mit.edu 37 X 135289972 135289972 + Missense_Mutation SNP A T T TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chrX:135289972A>T uc004ezo.3 + 4 682 c.353A>T c.(352-354)aAg>aTg p.K118M FHL1_uc010nrz.2_Missense_Mutation_p.K118M|FHL1_uc004ezq.2_Missense_Mutation_p.K118M|FHL1_uc004ezm.2_Intron|FHL1_uc004ezl.2_Missense_Mutation_p.K118M|FHL1_uc011mvy.1_Missense_Mutation_p.K118M|FHL1_uc004ezn.2_Missense_Mutation_p.K118M|FHL1_uc022ceu.1_Missense_Mutation_p.K118M|FHL1_uc011mwa.1_Missense_Mutation_p.K147M|FHL1_uc011mwb.1_Non-coding_Transcript|FHL1_uc004ezp.2_Missense_Mutation_p.K134M|FHL1_uc004ezr.2_5'UTR NM_001159702 NP_001153174 Q13642 FHL1_HUMAN Homo sapiens four and a half LIM domains 1 (FHL1), transcript variant 1, mRNA. 118 LIM zinc-binding 2. cell differentiation|cell growth|muscle organ development|organ morphogenesis cytosol|nucleus|plasma membrane protein binding|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1) 19 Acute lymphoblastic leukemia(192;0.000127) GTGGAGTACAAGGGGACCGTC 0.567000 10 4 0 0 0.00024832 0 0 CRNN 49860 broad.mit.edu 37 1 152382958 152382958 + Silent SNP C T T TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr1:152382958C>T uc001ezx.2 - 2 674 c.600G>A c.(598-600)agG>agA p.R200R NM_016190 NP_057274 Q9UBG3 CRNN_HUMAN Homo sapiens cornulin (CRNN), mRNA. 200 Gln-rich. cell-cell adhesion|response to heat cytoplasm|membrane calcium ion binding breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) TTGTCTGATTCCTCTTGCCTT 0.542000 126 77 0 0 0.000147903 0 0 PDZD4 57595 broad.mit.edu 37 X 153071017 153071017 + Silent SNP G A A TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chrX:153071017G>A uc004fja.1 - 5 862 c.612C>T c.(610-612)atC>atT p.I204I PDZD4_uc004fiy.1_Silent_p.I123I|PDZD4_uc004fiz.1_Silent_p.I198I|PDZD4_uc004fix.2_Silent_p.I102I|PDZD4_uc011mze.1_Silent_p.I89I|PDZD4_uc022chy.1_5'Flank NM_032512 NP_115901 Q76G19 PDZD4_HUMAN Homo sapiens PDZ domain containing 4 (PDZD4), mRNA. 198 PDZ. cell cortex breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1) 23 all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CCTGGCTCAGGATGGCCACCG 0.622000 10 21 0 0 9.22233e-05 0 0 FAT4 79633 broad.mit.edu 37 4 126336923 126336923 + Missense_Mutation SNP C T T TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr4:126336923C>T uc003ifj.4 + 4 6805 c.6805C>T c.(6805-6807)Cct>Tct p.P2269S FAT4_uc011cgp.2_Missense_Mutation_p.P567S NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA. 2269 Cadherin 22. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 TGTAAATGTCCCTGAGAATTT 0.368000 25 14 0 0 0.000219431 0 0 MYH4 4622 broad.mit.edu 37 17 10356510 10356511 + Missense_Mutation DNP GG TT TT TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr17:10356510_10356511GG>TT uc002gmn.3 - 23 3180_3181 c.3069_3070CC>AA c.(3067-3072)accctg>acAAtg p.L1024M AK097500_uc002gml.1_Intron NM_017533 NP_060003 Q9Y623 MYH4_HUMAN Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA. 1024 muscle filament sliding muscle myosin complex|myosin filament|sarcomere ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 GCTTTGGTCAGGGTGTTGACTT 0.455000 252 11 0 0 6.4e-05 0 0 MUC16 94025 broad.mit.edu 37 19 9089934 9089934 + Silent SNP G A A TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr19:9089934G>A uc002mkp.3 - 0 2085 c.1881C>T c.(1879-1881)ctC>ctT p.L627L NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 627 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TGGCTCTGGTGAGTAGGTGGG 0.587000 31 24 0 0 0.000586117 0 0 SEPT3 55964 broad.mit.edu 37 22 42377818 42377818 + Silent SNP C T T TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr22:42377818C>T uc003bbr.4 + 1 318 c.180C>T c.(178-180)ttC>ttT p.F60F SEPT3_uc003bbs.4_Silent_p.F60F|SEPT3_uc011apj.2_Intron|SEPT3_uc010gys.3_5'UTR NM_145733 NP_663786 Q9UH03 SEPT3_HUMAN Homo sapiens septin 3 (SEPT3), transcript variant A, mRNA. 60 cell cycle|cytokinesis cell junction|septin complex GTP binding breast(1)|kidney(3)|large_intestine(5)|lung(6)|prostate(1)|skin(1) 17 AGACCGGTTTCGACTTCAACA 0.567000 7 4 0 0 0.00024832 0 0 PATZ1 23598 broad.mit.edu 37 22 31741169 31741169 + Silent SNP G A A TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr22:31741169G>A uc003akq.3 - 0 1081 c.420C>T c.(418-420)gcC>gcT p.A140A PATZ1_uc003akp.3_Silent_p.A140A|PATZ1_uc003akr.3_Silent_p.A140A|PATZ1_uc003aks.3_Silent_p.A140A|Em:AC005003.4_uc003akt.3_5'Flank NM_014323 NP_055138 Q9HBE1 PATZ1_HUMAN Homo sapiens POZ (BTB) and AT hook containing zinc finger 1 (PATZ1), transcript variant 1, mRNA. 140 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding EWSR1/PATZ1(2) NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(2) 12 GCAGGAACTTGGCGGCCGTCA 0.547000 65 36 0 0 0.000437636 0 0 ZNF883 169834 broad.mit.edu 37 9 115759834 115759834 + Missense_Mutation SNP G A A TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr9:115759834G>A uc011lwy.2 - 4 1945 c.706C>T c.(706-708)Ccc>Tcc p.P236S NM_001101338 NP_001094808 P0CG24 ZN883_HUMAN Homo sapiens zinc finger protein 883 (ZNF883), mRNA. 236 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding CACTCATAGGGTTTTTCTCCA 0.423000 7 20 0 0 0.000132079 0 0 TPD52L3 89882 broad.mit.edu 37 9 6328770 6328770 + Missense_Mutation SNP G A A TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr9:6328770G>A uc003zjw.3 + 0 422 c.175G>A c.(175-177)Gaa>Aaa p.E59K TPD52L3_uc003zjv.3_Missense_Mutation_p.E59K|TPD52L3_uc003zjx.2_Missense_Mutation_p.E59K NM_033516 NP_277051 Q96J77 TPD55_HUMAN Homo sapiens tumor protein D52-like 3 (TPD52L3), transcript variant 1, mRNA. 59 protein binding p.G58G(1) large_intestine(1)|lung(9)|skin(1) 11 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.0198)|Lung(218;0.1) ACGCTGTGGGGAACTCAAGAG 0.502000 6 13 0 0 0.00010058 0 0 HIVEP3 59269 broad.mit.edu 37 1 42046221 42046221 + Silent SNP C T T TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr1:42046221C>T uc001cgz.4 - 3 5461 c.4248G>A c.(4246-4248)ttG>ttA p.L1416L HIVEP3_uc001cha.4_Silent_p.L1416L|HIVEP3_uc001cgy.3_Non-coding_Transcript NM_024503 NP_078779 Q5T1R4 ZEP3_HUMAN Homo sapiens human immunodeficiency virus type I enhancer binding protein 3 (HIVEP3), transcript variant 1, mRNA. 1416 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 85 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) CCTCCAGGCTCAAGATACTCT 0.493000 54 34 0 0 0.00058488 0 0 C2CD2L 9854 broad.mit.edu 37 11 118984576 118984576 + Missense_Mutation SNP C T T TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr11:118984576C>T uc001pvn.3 + 11 1863 c.1504C>T c.(1504-1506)Ctt>Ttt p.L502F C2CD2L_uc001pvo.3_Missense_Mutation_p.L501F NM_014807 NP_055622 O14523 C2C2L_HUMAN Homo sapiens C2CD2-like (C2CD2L), mRNA. 501 integral to membrane NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1) 13 GGACAGCCACCTTTCCAACGG 0.562000 19 10 0 0 3.86212e-05 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140711066 140711066 + Missense_Mutation SNP G A A TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr5:140711066G>A uc003lji.2 + 0 815 c.815G>A c.(814-816)gGa>gAa p.G272E PCDHGC5_uc011dan.2_Missense_Mutation_p.G272E NM_018912 NP_061735 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily A, 1 (PCDHGA1), transcript variant 1, mRNA. 272 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCTGATGAGGGAGCCAATGGG 0.448000 25 14 0 0 0.000308642 0 0 MAMSTR 284358 broad.mit.edu 37 19 49217244 49217244 + Missense_Mutation SNP C T T TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr19:49217244C>T uc002pkg.2 - 7 844 c.782G>A c.(781-783)gGg>gAg p.G261E MAMSTR_uc002pkf.2_Missense_Mutation_p.G158E NM_001130915 NP_872380 Q6ZN01 MASTR_HUMAN Homo sapiens MEF2 activating motif and SAP domain containing transcriptional regulator (MAMSTR), transcript variant 1, mRNA. 261 Pro-rich.|Transcription activation (By similarity). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding endometrium(1)|ovary(1) 2 cggagccgTCCCCGGGGTATC 0.682000 10 7 0 0 8.12818e-05 0 0 DNAH7 56171 broad.mit.edu 37 2 196709789 196709789 + Missense_Mutation SNP C T T TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr2:196709789C>T uc002utj.4 - 46 8983 c.8882G>A c.(8881-8883)cGa>cAa p.R2961Q NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA. 2961 AAA 5 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 ATTCCAAGTTCGAATTGTCAC 0.363000 27 19 0 0 0.000375601 0 0 CT45A5 441521 broad.mit.edu 37 X 134947909 134947909 + Missense_Mutation SNP C T T rs143395460 byFrequency TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chrX:134947909C>T uc004eze.3 - 2 661 c.416G>A c.(415-417)cGa>cAa p.R139Q CT45A5_uc022ces.1_Missense_Mutation_p.R139Q|CT45A5_uc011mvu.2_Missense_Mutation_p.R139Q NM_001007551 NP_001165759 Q6NSH3 CT455_HUMAN Homo sapiens cancer/testis antigen family 45, member A5 (CT45A5), transcript variant 1, mRNA. 139 p.R139Q(4) endometrium(1)|large_intestine(2)|lung(6) 9 CTACTTACTTCGTCCAAGGCA 0.388000 17 53 0 0 0.000147903 0 0 GRIN2B 2904 broad.mit.edu 37 12 13715834 13715834 + Silent SNP G A A TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr12:13715834G>A uc001rbt.2 - 12 4517 c.4338C>T c.(4336-4338)atC>atT p.I1446I NM_000834 NP_000825 Q13224 NMDE2_HUMAN Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA. 1446 response to ethanol N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1) 143 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) TCCCTATACAGATGTCCTTCT 0.562000 18 27 0 0 0.000117367 0 0 CDYL2 124359 broad.mit.edu 37 16 80718728 80718728 + Missense_Mutation SNP C T T rs151165278 byFrequency TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr16:80718728C>T uc002ffs.3 - 1 428 c.323G>A c.(322-324)cGa>cAa p.R108Q NM_152342 NP_689555 Q8N8U2 CDYL2_HUMAN Homo sapiens chromodomain protein, Y-like 2 (CDYL2), mRNA. 108 nucleus catalytic activity|protein binding breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1) 21 AGGGTTAATTCGCTTCCGTTT 0.562000 18 23 0 0 0.000375601 0 0 DOCK4 9732 broad.mit.edu 37 7 111381658 111381658 + Silent SNP C A A TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr7:111381658C>A uc003vfy.3 - 46 5234 c.4965G>T c.(4963-4965)gtG>gtT p.V1655V DOCK4_uc011kml.2_Silent_p.V491V|DOCK4_uc011kmm.2_Silent_p.V517V|DOCK4_uc003vfw.3_Silent_p.V1060V|DOCK4_uc003vfx.3_Silent_p.V1610V|DOCK4_uc003vfv.3_5'Flank NM_014705 NP_055520 Q8N1I0 DOCK4_HUMAN Homo sapiens dedicator of cytokinesis 4 (DOCK4), mRNA. 1610 Ser-rich. cell chemotaxis cytosol|endomembrane system|membrane|stereocilium GTP binding|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity|receptor tyrosine kinase binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4) 72 Acute lymphoblastic leukemia(1;0.0441) AGTTTCTACACACACGAGGGC 0.423000 6 18 7.07596e-05 0.00135382 7.07596e-05 1 0 PSG2 5670 broad.mit.edu 37 19 43576013 43576013 + Missense_Mutation SNP G A A rs149747966 TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr19:43576013G>A uc002ovr.3 - 3 975 c.803C>T c.(802-804)cCg>cTg p.P268L PSG4_uc010xwk.1_Intron NM_031246 NP_112536 P11465 PSG2_HUMAN Homo sapiens pregnancy specific beta-1-glycoprotein 2 (PSG2), mRNA. 268 Ig-like C2-type 2. cell migration|female pregnancy extracellular region p.P268S(1) central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2) 49 Prostate(69;0.00682) ATACTGTGCCGGTGGGTTAGA 0.458000 18 55 0 0 0.000147903 0 0 GRID2 2895 broad.mit.edu 37 4 94032039 94032039 + Nonsense_Mutation SNP C T T TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr4:94032039C>T uc011cdt.2 + 3 928 c.670C>T c.(670-672)Cga>Tga p.R224* GRID2_uc010ikx.3_Nonsense_Mutation_p.R224*|GRID2_uc011cdu.2_Nonsense_Mutation_p.R129*|GRID2_uc011cdv.1_Non-coding_Transcript NM_001510 NP_001501 O43424 GRID2_HUMAN Homo sapiens glutamate receptor, ionotropic, delta 2 (GRID2), mRNA. 224 glutamate signaling pathway cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Hepatocellular(203;0.114)|all_hematologic(202;0.177) OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191) L-Glutamic Acid(DB00142) GAATCGCTATCGAGACACTCT 0.413000 70 44 0 0 0.000147903 0 0 ADAMTSL3 57188 broad.mit.edu 37 15 84553961 84553961 + Missense_Mutation SNP G A A TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr15:84553961G>A uc002bjz.4 + 9 1293 c.1069G>A c.(1069-1071)Gga>Aga p.G357R ADAMTSL3_uc010bmt.1_Missense_Mutation_p.G357R NM_207517 NP_997400 P82987 ATL3_HUMAN Homo sapiens ADAMTS-like 3 (ADAMTSL3), mRNA. 357 proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 130 BRCA - Breast invasive adenocarcinoma(143;0.211) GACGTGTGGAGGAGGTGAGGC 0.428000 21 11 0 0 0.000151284 0 0 FBN1 2200 broad.mit.edu 37 15 48719891 48719891 + Silent SNP G T T TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr15:48719891G>T uc001zwx.2 - 57 7472 c.7077C>A c.(7075-7077)acC>acA p.T2359T FBN1_uc010beo.2_Non-coding_Transcript NM_000138 NP_000129 P35555 FBN1_HUMAN Homo sapiens fibrillin 1 (FBN1), mRNA. 2359 TB 9. heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 139 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) ATTCCGATTTGGTGACGGGGT 0.547000 25 18 9.86323e-18 1.93291e-16 0.000586117 1 0 MUC16 94025 broad.mit.edu 37 19 9049481 9049482 + Missense_Mutation DNP CC AA AA TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr19:9049481_9049482CC>AA uc002mkp.3 - 4 32353_32354 c.32149_32150GG>TT c.(32149-32151)ggg>TTg p.G10717L NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 10719 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GGTTTCTGCCCCAGGACTGGTG 0.475000 221 9 0 0 6.4e-05 0 0 RASGRP3 25780 broad.mit.edu 37 2 33745024 33745024 + Missense_Mutation SNP G A A TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr2:33745024G>A uc002rox.3 + 5 806 c.179G>A c.(178-180)cGa>cAa p.R60Q RASGRP3_uc010ync.2_Missense_Mutation_p.R60Q|RASGRP3_uc002roy.3_Missense_Mutation_p.R60Q NM_170672 NP_733772 Q8IV61 GRP3_HUMAN Homo sapiens RAS guanyl releasing protein 3 (calcium and DAG-regulated) (RASGRP3), transcript variant 2, mRNA. 60 N-terminal Ras-GEF. MAPKKK cascade|small GTPase mediated signal transduction integral to plasma membrane|intracellular Rap GTPase activator activity|calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|signal transducer activity p.R60Q(1) large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2) 11 all_hematologic(175;0.115) TTTACGTATCGAAATGCCACT 0.368000 13 11 0 0 0.00010058 0 0 MYO9A 4649 broad.mit.edu 37 15 72191230 72191230 + Missense_Mutation SNP G A A TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr15:72191230G>A uc002atl.4 - 24 4087 c.3614C>T c.(3613-3615)gCc>gTc p.A1205V MYO9A_uc010biq.3_Missense_Mutation_p.A825V|MYO9A_uc002atn.1_Missense_Mutation_p.A1186V|MYO9A_uc002atk.3_5'UTR|MYO9A_uc002atm.1_5'UTR NM_006901 NP_008832 B2RTY4 MYO9A_HUMAN Homo sapiens myosin IXA (MYO9A), mRNA. 1205 Tail. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception cytosol|integral to membrane|unconventional myosin complex ATP binding|GTPase activator activity|actin binding|metal ion binding|motor activity NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 88 TTCCTCTATGGCTTTTATTCT 0.423000 88 63 0 0 0.000147903 0 0 C15orf38-AP3S2 100526783 broad.mit.edu 37 15 90378847 90378847 + Missense_Mutation SNP G A A TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr15:90378847G>A uc002bos.4 - 9 1240 c.1085C>T c.(1084-1086)gCt>gTt p.A362V C15orf38-AP3S2_uc010bns.3_Non-coding_Transcript|C15orf38-AP3S2_uc002bor.4_Non-coding_Transcript|C15orf38-AP3S2_uc002boq.4_Missense_Mutation_p.A161V NM_001199058 NP_001185987 E2QRD5 E2QRD5_HUMAN Homo sapiens C15orf38-AP3S2 readthrough (C15orf38-AP3S2), mRNA. 362 intracellular protein transport|vesicle-mediated transport membrane coat protein transporter activity AGCAGACACAGCCCGCGCAGG 0.448000 62 29 0 0 0.000227799 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140216016 140216016 + Missense_Mutation SNP C T T TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr5:140216016C>T uc003lhq.2 + 0 2048 c.2048C>T c.(2047-2049)tCg>tTg p.S683L PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc011dac.2_Missense_Mutation_p.S683L NM_018910 NP_061733 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 7 (PCDHA7), transcript variant 1, mRNA. 692 Cadherin 6. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCGCGGGCATCGTTGGGCATT 0.632000 28 23 0 0 0.000295444 0 0 GLIS3 169792 broad.mit.edu 37 9 3879532 3879532 + Missense_Mutation SNP G T T TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr9:3879532G>T uc003zhx.1 - 7 2905 c.2192C>A c.(2191-2193)cCa>cAa p.P731Q GLIS3_uc010mhf.1_Missense_Mutation_p.P125Q|GLIS3_uc003zhv.1_Non-coding_Transcript|GLIS3_uc003zhw.1_Missense_Mutation_p.P576Q|GLIS3_uc003zhy.1_Missense_Mutation_p.P509Q NM_001042413 NP_001035878 Q8NEA6 GLIS3_HUMAN Homo sapiens GLIS family zinc finger 3 (GLIS3), transcript variant 1, mRNA. 576 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1) 26 Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148) Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148) GACAGGATGTGGGGGTGGTAC 0.557000 9 25 9.39395e-14 1.83205e-12 0.000147802 1 0 TIE1 7075 broad.mit.edu 37 1 43777681 43777681 + Silent SNP C T T TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr1:43777681C>T uc001ciu.3 + 10 1686 c.1509C>T c.(1507-1509)aaC>aaT p.N503N TIE1_uc010okd.2_Silent_p.N503N|TIE1_uc010oke.2_Silent_p.N458N|TIE1_uc009vwq.3_Silent_p.N459N|TIE1_uc010okf.1_Silent_p.N148N|TIE1_uc010okg.2_Silent_p.N148N NM_005424 NP_005415 P35590 TIE1_HUMAN Homo sapiens tyrosine kinase with immunoglobulin-like and EGF-like domains 1 (TIE1), transcript variant 1, mRNA. 503 Fibronectin type-III 1. mesoderm development integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 70 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) CCAGTGAGAACGTGACGTTAA 0.607000 37 11 0 0 0.000219431 0 0 ZNF331 55422 broad.mit.edu 37 19 54080114 54080114 + Silent SNP C T T TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr19:54080114C>T uc002qbx.1 + 6 1734 c.300C>T c.(298-300)gtC>gtT p.V100V ZNF331_uc002qby.1_Silent_p.V100V|ZNF331_uc002qbz.1_Silent_p.V100V|ZNF331_uc010eqr.1_Silent_p.V100V|ZNF331_uc002qca.1_Silent_p.V100V|ZNF331_uc021uzg.1_Silent_p.V100V|ZNF331_uc021uzh.1_Silent_p.V100V|ZNF331_uc002qcb.1_Silent_p.V100V|ZNF331_uc002qcc.1_Silent_p.V100V|ZNF331_uc002qcd.1_Silent_p.V100V NM_018555 NP_061025 Q9NQX6 ZN331_HUMAN Homo sapiens zinc finger protein 331 (ZNF331), transcript variant 1, mRNA. 100 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 10 GBM - Glioblastoma multiforme(134;0.00555) GGAGGTATGTCAATCAGATGA 0.428000 T ? follicular thyroid adenoma 61 39 0 0 0.000509022 0 0 NOL11 25926 broad.mit.edu 37 17 65735061 65735061 + Missense_Mutation SNP C T T TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr17:65735061C>T uc002jgd.1 + 14 1780 c.1777C>T c.(1777-1779)Cat>Tat p.H593Y NOL11_uc010wql.1_Missense_Mutation_p.H411Y|NOL11_uc010deu.1_Missense_Mutation_p.H188Y|SNORA38B_uc010dev.3_5'Flank NM_015462 NP_056277 Q9H8H0 NOL11_HUMAN Homo sapiens nucleolar protein 11 (NOL11), mRNA. 593 nucleolus haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1) 11 all_cancers(12;1.54e-10) BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0518)|COAD - Colon adenocarcinoma(4;0.0977)|LUSC - Lung squamous cell carcinoma(166;0.24) TGCAATTCTTCATTCAGCATA 0.338000 70 38 0 0 0.000437636 0 0 TRAK1 22906 broad.mit.edu 37 3 42226209 42226209 + Silent SNP C T T TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr3:42226209C>T uc003cky.3 + 3 612 c.396C>T c.(394-396)atC>atT p.I132I TRAK1_uc011azh.2_Silent_p.I132I|TRAK1_uc011azi.2_Silent_p.I132I|TRAK1_uc003ckz.4_Silent_p.I58I|TRAK1_uc011azj.2_Silent_p.I58I|TRAK1_uc003cla.3_Silent_p.I74I NM_001042646 NP_001036111 Q9UPV9 TRAK1_HUMAN Homo sapiens trafficking protein, kinesin binding 1 (TRAK1), transcript variant 1, mRNA. 132 HAP1 N-terminal. endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter early endosome|mitochondrion|nucleus central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2) 22 CCGCTCGCATCGGCCAGTCGT 0.507000 79 49 0 0 0.000147903 0 0 SNORD113-9 767569 broad.mit.edu 37 14 101412024 101412024 + RNA SNP G A A TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr14:101412024G>A uc001yiq.3 + 0 c.39G>A Homo sapiens small nucleolar RNA, C/D box 113-9 (SNORD113-9), small nucleolar RNA. CTGAATCTTGGATTTTGATTA 0.348000 48 69 0 0 0.000147903 0 0 FMNL3 91010 broad.mit.edu 37 12 50050213 50050213 + Missense_Mutation SNP G A A TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr12:50050213G>A uc001ruv.1 - 8 1093 c.859C>T c.(859-861)Ctt>Ttt p.L287F FMNL3_uc001ruw.1_Missense_Mutation_p.L236F|FMNL3_uc001ruu.1_Missense_Mutation_p.L137F NM_175736 NP_783863 Q8IVF7 FMNL3_HUMAN Homo sapiens formin-like 3 (FMNL3), transcript variant 1, mRNA. 287 GBD/FH3. actin cytoskeleton organization Rho GTPase binding|actin binding p.L287F(2) breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1) 39 AAGGCAGCAAGGATGATTTCG 0.507000 19 13 0 0 0.000219431 0 0 ARHGAP9 64333 broad.mit.edu 37 12 57873182 57873182 + Missense_Mutation SNP G A A TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr12:57873182G>A uc001sod.3 - 4 414 c.221C>T c.(220-222)tCc>tTc p.S74F ARHGAP9_uc001snz.3_5'Flank|ARHGAP9_uc001soa.3_5'Flank|ARHGAP9_uc001sob.3_Missense_Mutation_p.S3F|ARHGAP9_uc001soc.3_Missense_Mutation_p.S3F|ARHGAP9_uc001soe.1_Missense_Mutation_p.S82F|ARHGAP9_uc010sro.1_Missense_Mutation_p.S3F NM_032496 NP_115885 Q9BRR9 RHG09_HUMAN Homo sapiens Rho GTPase activating protein 9 (ARHGAP9), transcript variant 1, mRNA. 3 SH3. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1) 30 GBM - Glioblastoma multiforme(3;3.37e-34) CCACCGGCTGGATAGCATTGT 0.572000 16 12 0 0 0.00010058 0 0 GRM8 2918 broad.mit.edu 37 7 126173396 126173396 + Silent SNP C T T TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr7:126173396C>T uc003vlr.2 - 7 2351 c.2040G>A c.(2038-2040)ggG>ggA p.G680G GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Silent_p.G680G|GRM8_uc010lkz.1_Non-coding_Transcript NM_000845 NP_000836 O00222 GRM8_HUMAN Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA. 680 negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4) 125 Prostate(267;0.186) L-Glutamic Acid(DB00142) CAGATTTCTTCCCCTGCTCAA 0.507000 HNSCC(24;0.065) 29 46 0 0 0.000147903 0 0 AARS 16 broad.mit.edu 37 16 70311047 70311047 + Missense_Mutation SNP A G G TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr16:70311047A>G uc002eyn.1 - 2 265 c.155T>C c.(154-156)aTt>aCt p.I52T NM_001605 NP_001596 P49588 SYAC_HUMAN Homo sapiens alanyl-tRNA synthetase (AARS), mRNA. 52 alanyl-tRNA aminoacylation|tRNA processing cytosol|soluble fraction ATP binding|alanine-tRNA ligase activity|metal ion binding|tRNA binding breast(3)|cervix(2)|endometrium(5)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1) 27 Ovarian(137;0.0365) BRCA - Breast invasive adenocarcinoma(221;0.161) L-Alanine(DB00160) GTTCAGGAAAATGGGTTTAAA 0.488000 42 37 0 0 0.000125731 0 0 DOCK11 139818 broad.mit.edu 37 X 117805075 117805075 + Silent SNP C T T TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chrX:117805075C>T uc004eqp.2 + 45 5229 c.5166C>T c.(5164-5166)atC>atT p.I1722I DOCK11_uc004eqq.2_Silent_p.I1501I NM_144658 NP_653259 Q5JSL3 DOC11_HUMAN Homo sapiens dedicator of cytokinesis 11 (DOCK11), mRNA. 1722 DHR-2. blood coagulation cytosol GTP binding breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1) 84 CCAAGTTGATCGTTCCAATTT 0.353000 7 45 0 0 0.000147903 0 0 SH2D4A 63898 broad.mit.edu 37 8 19221586 19221586 + Missense_Mutation SNP G A A TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr8:19221586G>A uc003wzc.3 + 6 1018 c.710G>A c.(709-711)cGa>cAa p.R237Q SH2D4A_uc003wzb.3_Missense_Mutation_p.R237Q|SH2D4A_uc011kym.2_Missense_Mutation_p.R192Q NM_001174159 NP_071354 Q9H788 SH24A_HUMAN Homo sapiens SH2 domain containing 4A (SH2D4A), transcript variant 2, mRNA. 237 cytoplasm|nucleus protein binding endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|stomach(1) 16 Colorectal(111;0.0732) TTTCCAGTGCGAAAATCCAAA 0.537000 25 26 0 0 0.000184323 0 0 EP400 57634 broad.mit.edu 37 12 132547093 132547093 + Silent SNP A G G rs60608267 by1000genomes TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr12:132547093A>G uc001ujn.3 + 46 8333 c.8181A>G c.(8179-8181)caA>caG p.Q2727Q EP400_uc021rgq.1_Silent_p.Q2726Q|EP400_uc001ujm.3_Silent_p.Q2646Q|EP400_uc001ujp.3_5'UTR NM_015409 NP_056224 Q96L91 EP400_HUMAN Homo sapiens E1A binding protein p400 (EP400), mRNA. 2763 Interaction with ZNF42 (By similarity). histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2726Q(18) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcaacaacagcagcagc 0.567000 46 4 0 0 0.00024832 0 0 LYPD4 147719 broad.mit.edu 37 19 42342212 42342212 + Missense_Mutation SNP G A A TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr19:42342212G>A uc002orp.1 - 3 1319 c.335C>T c.(334-336)tCt>tTt p.S112F LYPD4_uc002orq.1_Missense_Mutation_p.S77F NM_173506 NP_775777 Q6UWN0 LYPD4_HUMAN Homo sapiens LY6/PLAUR domain containing 4 (LYPD4), mRNA. 112 anchored to membrane|plasma membrane p.R111Q(1) breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2) 12 GCAGAGATAAGACCGGCAGAC 0.527000 36 19 0 0 0.000295444 0 0 VCAN 1462 broad.mit.edu 37 5 82817593 82817593 + Silent SNP T C C TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr5:82817593T>C uc003kii.3 + 6 3824 c.3468T>C c.(3466-3468)ccT>ccC p.P1156P VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_Silent_p.P1156P|VCAN_uc003kik.3_Intron NM_004385 NP_004376 P13611 CSPG2_HUMAN Homo sapiens versican (VCAN), transcript variant 1, mRNA. 1156 GAG-alpha (glucosaminoglycan attachment domain). cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 190 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) CTTTGAGTCCTTTTAGTACCC 0.398000 72 4 0 0 1.23904e-05 0 0 CORIN 10699 broad.mit.edu 37 4 47746434 47746434 + Missense_Mutation SNP C T T TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr4:47746434C>T uc003gxm.3 - 4 877 c.784G>A c.(784-786)Gaa>Aaa p.E262K CORIN_uc011bzf.2_Missense_Mutation_p.E123K|CORIN_uc011bzg.2_Missense_Mutation_p.E195K|CORIN_uc011bzh.1_Missense_Mutation_p.E262K|CORIN_uc011bzi.1_Missense_Mutation_p.E262K|CORIN_uc003gxn.4_Missense_Mutation_p.E262K NM_006587 NP_006578 Q9Y5Q5 CORIN_HUMAN Homo sapiens corin, serine peptidase (CORIN), mRNA. 262 peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide integral to membrane|plasma membrane scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2) 79 TTTCCGTTTTCCTGCTGAGGT 0.378000 69 52 0 0 0.000147903 0 0 AKAP11 11215 broad.mit.edu 37 13 42876210 42876211 + Missense_Mutation DNP CG AT AT rs139388454 byFrequency TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr13:42876210_42876211CG>AT uc001uys.2 + 7 3503_3504 c.3328_3329CG>AT c.(3328-3330)cgg>ATg p.R1110M NM_016248 NP_057332 Q9UKA4 AKA11_HUMAN Homo sapiens A kinase (PRKA) anchor protein 11 (AKAP11), mRNA. 1110 intracellular protein kinase cascade microtubule organizing center protein kinase A binding|protein phosphatase 1 binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2) 56 Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19) AGTACCATCCCGGGCTAGTTCT 0.426000 66 5 0 0 6.4e-05 0 0 COL5A2 1290 broad.mit.edu 37 2 189957035 189957035 + Splice_Site SNP C T T TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr2:189957035C>T uc002uqk.3 - 7 842 c.567_splice c.e7+1 p.R189_splice NM_000393 NP_000384 P05997 CO5A2_HUMAN Homo sapiens collagen, type V, alpha 2 (COL5A2), mRNA. 189 axon guidance|collagen fibril organization|eye morphogenesis|skin development collagen type V extracellular matrix structural constituent NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3) 95 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127) ACACAACTCACCCTGCTCAAG 0.458000 4 8 0 0 0.000157383 0 0 MGAM 8972 broad.mit.edu 37 7 141719069 141719069 + Missense_Mutation SNP C T T TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr7:141719069C>T uc003vwy.3 + 3 452 c.398C>T c.(397-399)tCc>tTc p.S133F NM_004668 NP_004659 O43451 MGA_HUMAN Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA. 133 P-type 1. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) TGCTACTATTCCAAGAATCAT 0.512000 27 56 0 0 0.000147903 0 0 NKTR 4820 broad.mit.edu 37 3 42660522 42660522 + Silent SNP C T T TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr3:42660522C>T uc003clo.3 + 3 291 c.144C>T c.(142-144)ggC>ggT p.G48G NKTR_uc003cll.1_Silent_p.G48G|NKTR_uc003clm.1_5'UTR|NKTR_uc011azp.2_5'UTR|NKTR_uc003clp.3_5'UTR|NKTR_uc003clq.1_5'Flank NM_005385 NP_005376 P30414 NKTR_HUMAN Homo sapiens natural killer-tumor recognition sequence (NKTR), mRNA. 48 PPIase cyclophilin-type. 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) GAGAGAAAGGCCTTGGGAAAA 0.343000 36 26 0 0 9.22233e-05 0 0 GABRB1 2560 broad.mit.edu 37 4 47163300 47163300 + Nonsense_Mutation SNP G A A TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr4:47163300G>A uc003gxh.3 + 3 649 c.275G>A c.(274-276)tGg>tAg p.W92* GABRB1_uc011bze.2_Nonsense_Mutation_p.W22* NM_000812 NP_000803 P18505 GBRB1_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 1 (GABRB1), mRNA. 92 synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) CAGCAGTCTTGGAAAGACAAA 0.358000 64 31 0 0 0.000339439 0 0 ATP8B3 148229 broad.mit.edu 37 19 1789630 1789630 + Missense_Mutation SNP C T T TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr19:1789630C>T uc002ltw.3 - 22 2809 c.2575G>A c.(2575-2577)Gat>Aat p.D859N ATP8B3_uc002ltv.3_Missense_Mutation_p.D822N|ATP8B3_uc002ltx.3_Intron NM_138813 NP_620168 O60423 AT8B3_HUMAN Homo sapiens ATPase, aminophospholipid transporter, class I, type 8B, member 3 (ATP8B3), transcript variant 1, mRNA. 859 ATP biosynthetic process ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 23 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TAGAGGAAATCCCTCCTGGAC 0.692000 4 5 0 0 1.23904e-05 0 0 NLRP7 199713 broad.mit.edu 37 19 55449588 55449588 + Silent SNP C T T TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr19:55449588C>T uc002qih.4 - 4 2029 c.1953G>A c.(1951-1953)ccG>ccA p.P651P NLRP7_uc010esk.3_Silent_p.P651P|NLRP7_uc002qig.4_Intron|NLRP7_uc002qii.4_Silent_p.P651P|NLRP7_uc010esl.3_Silent_p.P679P NM_206828 NP_996611 Q8WX94 NALP7_HUMAN Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA. 651 P -> S (in HYDM). ATP binding autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 73 GBM - Glioblastoma multiforme(193;0.0325) GAGCCCAGTTCGGAATGGTTA 0.488000 46 16 0 0 7.07596e-05 0 0 TNXB 7148 broad.mit.edu 37 6 32063513 32063514 + Frame_Shift_Del DEL AC - - TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr6:32063513_32063514delAC uc003nzl.2 - 2 2318_2319 c.2116_2117delGT c.(2116-2118)gtafs p.V706fs NM_019105 NP_061978 P22105 TENX_HUMAN Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA. 706 EGF-like 18. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 GAAGCCCTCTACACACACACAC 0.668 --- 239 --- --- 7 --- ABCB9 23457 broad.mit.edu 37 12 123425520 123425520 + Frame_Shift_Del DEL C - - TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chr12:123425520delC uc001udm.4 - 7 1713 c.1403delG c.(1402-1404)ggcfs p.G468fs ABCB9_uc021rfo.1_Frame_Shift_Del_p.G468fs|ABCB9_uc021rfp.1_Frame_Shift_Del_p.G468fs|ABCB9_uc010tai.2_Frame_Shift_Del_p.G75fs|ABCB9_uc001udo.4_Frame_Shift_Del_p.G425fs|ABCB9_uc010taj.2_Intron|ABCB9_uc001udq.3_Intron|ABCB9_uc021rfq.1_Frame_Shift_Del_p.G468fs|ABCB9_uc001udr.3_Frame_Shift_Del_p.G468fs NM_019625 NP_062571 Q9NP78 ABCB9_HUMAN Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 9 (ABCB9), transcript variant 1, mRNA. 468 ABC transmembrane type-1. positive regulation of T cell mediated cytotoxicity|protein transport TAP complex|lysosomal membrane|plasma membrane ATP binding|MHC class I protein binding|TAP1 binding|TAP2 binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|tapasin binding central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(1) 18 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111) CTGCATCAGGCCACTGTAGAC 0.647 --- 4 --- --- 2 --- NR0B1 190 broad.mit.edu 37 X 30326975 30326975 + Frame_Shift_Del DEL C - - TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9cc5d5d-8138-4152-b438-80205e89997a ba68f51e-905c-4dc0-aef0-91b38a158616 g.chrX:30326975delC uc004dcf.4 - 0 521 c.506delG c.(505-507)ggcfs p.G169fs NM_000475 NP_000466 P51843 NR0B1_HUMAN Homo sapiens nuclear receptor subfamily 0, group B, member 1 (NR0B1), mRNA. 169 4 X 67 AA tandem repeats. adrenal gland development|hypothalamus development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of steroid hormone receptor signaling pathway|pituitary gland development|protein localization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid biosynthetic process cytoplasm|membrane fraction|nucleoplasm|nucleus|polysomal ribosome AF-2 domain binding|DNA hairpin binding|RNA binding|ligand-regulated transcription factor activity|protein domain specific binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|steroid hormone receptor binding|transcription corepressor activity|transcription factor binding central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2) 24 Dexamethasone(DB01234)|Tretinoin(DB00755) CCACCACGCGCCCCCTGGCCG 0.682 OREG0019719 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) --- 4 --- --- 2 ---