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 NEIL2 252969 broad.mit.edu 37 8 11629028 11629028 + Silent SNP G A A TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr8:11629028G>A uc003wug.2 + 1 747 c.72G>A c.(70-72)aaG>aaA p.K24K NEIL2_uc003wue.2_Silent_p.K24K|NEIL2_uc003wuf.2_Intron|NEIL2_uc011kxd.1_Silent_p.K24K NM_145043 NP_001129219 Q969S2 NEIL2_HUMAN Homo sapiens nei endonuclease VIII-like 2 (E. coli) (NEIL2), transcript variant 1, mRNA. 24 base-excision repair|nucleotide-excision repair nucleus DNA-(apurinic or apyrimidinic site) lyase activity|damaged DNA binding|hydrolase activity, hydrolyzing N-glycosyl compounds|zinc ion binding endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1) 10 all_epithelial(15;0.103) STAD - Stomach adenocarcinoma(15;0.00225) COAD - Colon adenocarcinoma(149;0.166) AGGTGGTCAAGACAGGGGGCA 0.572000 Base excision repair (BER), DNA glycosylases 122 10 0 0 0.000673444 0 0 MYO7A 4647 broad.mit.edu 37 11 76910721 76910721 + Silent SNP C T T TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr11:76910721C>T uc001oyb.2 + 34 4982 c.4710C>T c.(4708-4710)ttC>ttT p.F1570F MYO7A_uc010rsm.1_Silent_p.F1521F|MYO7A_uc001oyc.2_Silent_p.F1532F|MYO7A_uc009yus.1_Non-coding_Transcript|MYO7A_uc009yut.1_Silent_p.F743F NM_000260 NP_000251 Q13402 MYO7A_HUMAN Homo sapiens myosin VIIA (MYO7A), transcript variant 1, mRNA. 1570 FERM 1. actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse ATP binding|actin binding|calmodulin binding|microfilament motor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 CCCCCAGCTTCACGCTGGCCA 0.637000 19 11 0 0 0.00136819 0 0 SLFN12L 100506736 broad.mit.edu 37 17 33806727 33806727 + Missense_Mutation SNP C T T TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr17:33806727C>T uc002hjn.3 - 2 1303 c.589G>A c.(589-591)Gaa>Aaa p.E197K SLFN12L_uc021tuy.1_Missense_Mutation_p.E168K NM_001195790 NP_001182719 Q6IEE8 SN12L_HUMAN Homo sapiens schlafen family member 12-like (SLFN12L), mRNA. 200 integral to membrane ATP binding breast(1)|endometrium(4)|kidney(5)|large_intestine(2)|lung(3)|ovary(1) 16 CCAGTTTTTTCCATGTCTTTG 0.453000 16 6 0 0 0.000274275 0 0 KANK2 25959 broad.mit.edu 37 19 11285168 11285168 + Silent SNP C A A TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr19:11285168C>A uc002mqm.3 - 6 2152 c.2073G>T c.(2071-2073)gtG>gtT p.V691V KANK2_uc021upe.1_Silent_p.V683V|KANK2_uc002mqo.4_Silent_p.V683V|KANK2_uc002mqp.1_Silent_p.V492V NM_015493 NP_056308 Q63ZY3 KANK2_HUMAN Homo sapiens KN motif and ankyrin repeat domains 2 (KANK2), transcript variant 1, mRNA. 683 endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 GCAGCTGCTGCACCACGGGGA 0.637000 13 4 0.00024832 0.00151547 0.00024832 1 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A T T rs121913377 TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 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 51 26 0 0 0.00106085 0 0 TMEM97 27346 broad.mit.edu 37 17 26652620 26652620 + Missense_Mutation SNP A G G TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr17:26652620A>G uc002hat.3 + 1 363 c.218A>G c.(217-219)gAg>gGg p.E73G NM_014573 NP_055388 Q5BJF2 TMM97_HUMAN Homo sapiens transmembrane protein 97 (TMEM97), mRNA. 73 cholesterol homeostasis|regulation of cell growth integral to membrane|lysosome|nuclear membrane|plasma membrane|rough endoplasmic reticulum protein binding p.E73*(1) endometrium(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 6 all_lung(13;0.000238)|Lung NSC(42;0.000789) UCEC - Uterine corpus endometrioid carcinoma (53;0.153) CTGTTTTGCGAGCTTGTGTTT 0.453000 81 43 0 0 0.000437636 0 0 LRP5 4041 broad.mit.edu 37 11 68115510 68115510 + Missense_Mutation SNP G A A TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr11:68115510G>A uc001ont.3 + 1 362 c.287G>A c.(286-288)gGg>gAg p.G96E LRP5_uc009ysg.3_5'UTR NM_002335 NP_002326 O75197 LRP5_HUMAN Homo sapiens low density lipoprotein receptor-related protein 5 (LRP5), mRNA. 96 Beta-propeller 1. Wnt receptor signaling pathway involved in dorsal/ventral axis specification|adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex protein binding|receptor activity autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 AACCAGACGGGGGCCGCCGTG 0.637000 107 23 0 0 0.00047179 0 0 KCNB2 9312 broad.mit.edu 37 8 73849017 73849017 + Missense_Mutation SNP C T T TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr8:73849017C>T uc003xzb.3 + 2 2015 c.1427C>T c.(1426-1428)gCc>gTc p.A476V NM_004770 NP_004761 Q92953 KCNB2_HUMAN Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA. 476 regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 85 Breast(64;0.137) Epithelial(68;0.105) GGAGAGTCCGCCAACACAAAG 0.522000 121 38 0 0 0.00148497 0 0 PARP14 54625 broad.mit.edu 37 3 122404049 122404049 + Missense_Mutation SNP G A A TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr3:122404049G>A uc003efq.4 + 1 264 c.205G>A c.(205-207)Gag>Aag p.E69K NM_017554 NP_060024 Q460N5 PAR14_HUMAN Homo sapiens poly (ADP-ribose) polymerase family, member 14 (PARP14), mRNA. 69 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane NAD+ ADP-ribosyltransferase activity NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 50 GBM - Glioblastoma multiforme(114;0.0531) GAAGGTTCTGGAGAGAAAAAA 0.393000 22 27 0 0 0.00106085 0 0 MYLK 4638 broad.mit.edu 37 3 123376213 123376213 + Missense_Mutation SNP G T T TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr3:123376213G>T uc003ego.3 - 23 4330 c.4048C>A c.(4048-4050)Ctg>Atg p.L1350M MYLK_uc010hrr.3_5'UTR|MYLK_uc011bjv.2_Missense_Mutation_p.L150M|MYLK_uc011bjw.2_Missense_Mutation_p.L1350M|MYLK_uc003egp.3_Missense_Mutation_p.L1281M|MYLK_uc003egq.3_Missense_Mutation_p.L1350M|MYLK_uc003egr.3_Missense_Mutation_p.L1281M|MYLK_uc003egs.3_Missense_Mutation_p.L1174M NM_053025 NP_444253 Q15746 MYLK_HUMAN Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA. 1350 Actin-binding (calcium/calmodulin- insensitive) (By similarity).|Fibronectin type-III. 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) TACCAGGACAGGGTCAGTGAG 0.547000 21 20 7.45023e-12 4.62288e-11 0.00152264 1 0 MORC2 22880 broad.mit.edu 37 22 31330890 31330890 + Silent SNP G A A TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr22:31330890G>A uc003aje.1 - 19 3249 c.1885C>T c.(1885-1887)Ctg>Ttg p.L629L NM_014941 NP_055756 Q9Y6X9 MORC2_HUMAN Homo sapiens MORC family CW-type zinc finger 2 (MORC2), mRNA. 691 ATP binding|zinc ion binding breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 21 TGCTGCACCAGAGGGGCAGGT 0.587000 67 65 0 0 0.000781405 0 0 NISCH 11188 broad.mit.edu 37 3 52521644 52521644 + Nonsense_Mutation SNP G A A TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr3:52521644G>A uc003ded.4 + 15 2270 c.2136G>A c.(2134-2136)tgG>tgA p.W712* NISCH_uc003dee.4_Nonsense_Mutation_p.W201*|NISCH_uc003deg.1_Non-coding_Transcript NM_007184 NP_009115 Q9Y2I1 NISCH_HUMAN Homo sapiens nischarin (NISCH), mRNA. 712 Interaction with ITGA5 (By similarity).|Interaction with LIMK (By similarity).|Interaction with PAK1 (By similarity). apoptosis|cell communication cytosol|early endosome|plasma membrane|recycling endosome phosphatidylinositol binding|receptor activity NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 33 BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577) AGGTGCTGTGGTGCTTCCTGA 0.632000 15 25 0 0 0.000586117 0 0 PRR4 11272 broad.mit.edu 37 12 10999770 10999770 + Silent SNP G A A TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr12:10999770G>A uc001qyz.4 - 2 336 c.297C>T c.(295-297)caC>caT p.H99H PRH1_uc001qzb.4_Non-coding_Transcript|TAS2R14_uc021qve.1_Non-coding_Transcript|PRR4_uc001qza.4_Intron NM_007244 NP_009175 Q16378 PROL4_HUMAN Homo sapiens proline rich 4 (lacrimal) (PRR4), transcript variant 2, mRNA. 99 visual perception extracellular space endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1) 9 AGAGTTGACGGTGTCCTCGTC 0.557000 140 73 0 0 0.000781405 0 0 NETO1 81832 broad.mit.edu 37 18 70451055 70451055 + Silent SNP G A A TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr18:70451055G>A uc002lkw.3 - 6 1010 c.726C>T c.(724-726)tcC>tcT p.S242S NETO1_uc002lky.2_Silent_p.S242S NM_001201465 NP_001188394 Q8TDF5 NETO1_HUMAN Homo sapiens neuropilin (NRP) and tolloid (TLL)-like 1 (NETO1), transcript variant 4, mRNA. 242 CUB 2. memory|regulation of long-term neuronal synaptic plasticity|visual learning cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane receptor activity p.S241C(1)|p.S241I(1) NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1) 63 Esophageal squamous(42;0.129) READ - Rectum adenocarcinoma(1;0.0487) AATCCTCCACGGAACTGCTTC 0.443000 77 56 0 0 0.000781405 0 0 ATP8A2 51761 broad.mit.edu 37 13 26154053 26154053 + Missense_Mutation SNP C T T TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr13:26154053C>T uc001uqk.3 + 21 2117 c.1975C>T c.(1975-1977)Cgg>Tgg p.R659W ATP8A2_uc010tdi.2_Missense_Mutation_p.R619W|ATP8A2_uc010tdj.2_Non-coding_Transcript|ATP8A2_uc010aaj.1_Missense_Mutation_p.R169W NM_016529 NP_057613 Q9NTI2 AT8A2_HUMAN Homo sapiens ATPase, aminophospholipid transporter, class I, type 8A, member 2 (ATP8A2), mRNA. 619 ATP biosynthetic process|negative regulation of cell proliferation integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1) 72 Breast(139;0.0201)|Lung SC(185;0.0225) all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079) CAGAGCTCAACGGTTGGAAGA 0.443000 39 15 0 0 0.000308642 0 0 UNC45B 146862 broad.mit.edu 37 17 33501269 33501269 + Silent SNP G A A TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr17:33501269G>A uc002hja.3 + 13 1942 c.1845G>A c.(1843-1845)aaG>aaA p.K615K UNC45B_uc002hjb.3_Silent_p.K613K|UNC45B_uc002hjc.3_Silent_p.K613K|UNC45B_uc010cto.3_Silent_p.K534K NM_173167 NP_775259 Q8IWX7 UN45B_HUMAN Homo sapiens unc-45 homolog B (C. elegans) (UNC45B), transcript variant 1, mRNA. 615 cell differentiation|muscle organ development cytosol binding p.K615*(1) breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3) 59 Ovarian(249;0.17) AGGACAAGAAGGACTTTATAG 0.517000 137 60 0 0 0.000781405 0 0 FZD10 11211 broad.mit.edu 37 12 130649206 130649206 + Silent SNP C T T TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr12:130649206C>T uc001uii.3 + 0 2203 c.1719C>T c.(1717-1719)atC>atT p.I573I FLJ31485_uc001uig.2_5'Flank|FLJ31485_uc001uih.2_5'Flank NM_007197 NP_009128 Q9ULW2 FZD10_HUMAN Homo sapiens frizzled family receptor 10 (FZD10), mRNA. 573 brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development cell projection|cell surface|cytoplasm|integral to plasma membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1) 35 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05) AATATGAGATCCCTGCCCAGT 0.552000 19 17 0 0 0.000958276 0 0 NWD1 284434 broad.mit.edu 37 19 16860971 16860971 + Silent SNP C T T TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr19:16860971C>T uc002neu.4 + 5 1940 c.1518C>T c.(1516-1518)ctC>ctT p.L506L NWD1_uc002net.4_Silent_p.L371L|NWD1_uc002nev.4_Silent_p.L300L|NWD1_uc021uqg.1_Silent_p.L371L NM_001007525 NP_001007526 Q149M9 NWD1_HUMAN Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA. 506 NACHT. ATP binding NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 TGATCCAACTCCTGCTGGCAG 0.642000 59 29 0 0 0.00178596 0 0 SAV1 60485 broad.mit.edu 37 14 51132299 51132299 + Missense_Mutation SNP G A A TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr14:51132299G>A uc001wyh.1 - 1 471 c.133C>T c.(133-135)Cca>Tca p.P45S SAV1_uc021rsy.1_Non-coding_Transcript NM_021818 NP_068590 Q9H4B6 SAV1_HUMAN Homo sapiens salvador homolog 1 (Drosophila) (SAV1), mRNA. 45 hippo signaling cascade cytoplasm|nucleus identical protein binding breast(1)|kidney(2)|lung(2)|prostate(1) 6 all_epithelial(31;0.000611)|Breast(41;0.0333) GTTCGTCTTGGAATTGTTGGA 0.358000 35 5 0 0 0.000602214 0 0 PRTG 283659 broad.mit.edu 37 15 55919241 55919241 + Silent SNP G A A TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr15:55919241G>A uc002adg.3 - 16 2940 c.2892C>T c.(2890-2892)atC>atT p.I964I NM_173814 NP_776175 Q2VWP7 PRTG_HUMAN Homo sapiens protogenin (PRTG), mRNA. 964 multicellular organismal development integral to membrane breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 41 all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135) TGAGAACACAGATGAGGATGC 0.408000 41 18 0 0 0.00074312 0 0 KIAA1244 57221 broad.mit.edu 37 6 138607931 138607931 + Missense_Mutation SNP C T T TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr6:138607931C>T uc003qhu.3 + 15 2834 c.2663C>T c.(2662-2664)tCc>tTc p.S888F NM_020340 NP_065073 Q5TH69 BIG3_HUMAN Homo sapiens KIAA1244 (KIAA1244), mRNA. 888 regulation of ARF protein signal transduction cytoplasm|integral to membrane ARF guanyl-nucleotide exchange factor activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2) 44 Breast(32;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259) GCGGGGAGCTCCAAAGGGCTG 0.567000 52 48 0 0 0.000781405 0 0 GDAP1 54332 broad.mit.edu 37 8 75276227 75276228 + Nonsense_Mutation DNP CC TT TT TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr8:75276227_75276228CC>TT uc003yah.3 + 5 781_782 c.702_703CC>TT c.(700-705)ggccag>ggTTag p.Q235* GDAP1_uc011lfj.2_Nonsense_Mutation_p.Q120*|GDAP1_uc003yai.3_Nonsense_Mutation_p.Q167* NM_018972 NP_001035808 Q8TB36 GDAP1_HUMAN Homo sapiens ganglioside-induced differentiation-associated protein 1 (GDAP1), transcript variant 1, mRNA. 235 GST C-terminal. cytoplasm endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 Breast(64;0.00769) Myeloproliferative disorder(644;0.0122) BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.104)|all cancers(69;0.234) TAGAAGAGGGCCAGCAACCTTG 0.510000 32 14 0 0 6.4e-05 0 0 CSRP2BP 57325 broad.mit.edu 37 20 18139841 18139841 + Missense_Mutation SNP T C C TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr20:18139841T>C uc021wbb.1 + 3 1051 c.614T>C c.(613-615)gTt>gCt p.V205A CSRP2BP_uc002wqk.3_Missense_Mutation_p.V77A|CSRP2BP_uc010zru.2_Missense_Mutation_p.V77A NM_020536 NP_065397 Q9H8E8 CSR2B_HUMAN Homo sapiens CSRP2 binding protein (CSRP2BP), transcript variant 1, mRNA. 205 histone H3 acetylation Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm LIM domain binding|N-acetyltransferase activity NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1) 34 TGGAAACTTGTTCATAACAAG 0.483000 36 21 0 0 0.00152264 0 0 LRRC15 131578 broad.mit.edu 37 3 194081290 194081290 + Silent SNP C T T TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr3:194081290C>T uc003ftt.3 - 2 626 c.501G>A c.(499-501)ctG>ctA p.L167L LRRC15_uc003ftu.3_Silent_p.L161L|LRRC15_uc021xiy.1_Silent_p.L161L NM_001135057 NP_570843 Q8TF66 LRC15_HUMAN Homo sapiens leucine rich repeat containing 15 (LRRC15), transcript variant 1, mRNA. 161 integral to membrane p.G167*(1) biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_cancers(143;5.31e-09)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.94e-05) GGATGTATTCCAGGTGGTTGC 0.572000 72 81 0 0 0.000781405 0 0 SLC9C2 284525 broad.mit.edu 37 1 173526486 173526486 + Missense_Mutation SNP G A A TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr1:173526486G>A uc001giz.2 - 9 1631 c.1208C>T c.(1207-1209)cCa>cTa p.P403L SLC9C2_uc009wwe.2_5'UTR|SLC9C2_uc010pmq.1_Non-coding_Transcript NM_178527 NP_848622 Q5TAH2 S9A11_HUMAN Homo sapiens solute carrier family 9, member 11 (SLC9A11), mRNA. 403 sodium ion transport integral to membrane ion channel activity|solute:hydrogen antiporter activity TACCATTTGTGGTACTTCCAC 0.373000 130 43 0 0 0.00195071 0 0 NUPL1 9818 broad.mit.edu 37 13 25889500 25889500 + Missense_Mutation SNP G A A TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr13:25889500G>A uc001uqi.3 + 5 826 c.580G>A c.(580-582)Gga>Aga p.G194R NUPL1_uc001uqg.1_Missense_Mutation_p.G194R|NUPL1_uc001uqj.3_Missense_Mutation_p.G182R NM_014089 NP_054808 Q9BVL2 NUPL1_HUMAN Homo sapiens nucleoporin like 1 (NUPL1), transcript variant 1, mRNA. 194 14 X 2 AA repeats of F-G. carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear membrane|nuclear pore p.G194*(2) breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|stomach(1)|urinary_tract(1) 16 Lung SC(185;0.0225)|Breast(139;0.0351) all cancers(112;0.0092)|Epithelial(112;0.0477)|OV - Ovarian serous cystadenocarcinoma(117;0.165)|GBM - Glioblastoma multiforme(144;0.244) TATAGGACTTGGACAGAATGC 0.378000 259 94 0 0 0.000781405 0 0 ZNF582 147948 broad.mit.edu 37 19 56896336 56896336 + Silent SNP G A A TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr19:56896336G>A uc002qmy.3 - 4 836 c.543C>T c.(541-543)ccC>ccT p.P181P ZNF582_uc002qmz.1_Silent_p.P150P NM_144690 NP_653291 Q96NG8 ZN582_HUMAN Homo sapiens zinc finger protein 582 (ZNF582), mRNA. 150 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Colorectal(82;0.000256)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0547) GGTCAAAAGTGGGCATTTCTT 0.378000 90 44 0 0 0.000509022 0 0 OR51M1 390059 broad.mit.edu 37 11 5410796 5410796 + Silent SNP C T T TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr11:5410796C>T uc010qzc.2 + 0 190 c.168C>T c.(166-168)ttC>ttT p.F56F HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron NM_001004756 NP_001004756 B2RNI9 B2RNI9_HUMAN Homo sapiens olfactory receptor, family 51, subfamily M, member 1 (OR51M1), mRNA. 56 integral to membrane olfactory receptor activity NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1) 30 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GCAATTGTTTCATTCTGATCA 0.453000 119 18 0 0 0.000566183 0 0 ALDH1L2 160428 broad.mit.edu 37 12 105420355 105420355 + Missense_Mutation SNP C A A TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr12:105420355C>A uc001tlc.3 - 21 2811 c.2684G>T c.(2683-2685)gGa>gTa p.G895V ALDH1L2_uc009zuo.3_Missense_Mutation_p.G350V|ALDH1L2_uc009zup.3_Non-coding_Transcript NM_001034173 NP_001029345 Q3SY69 AL1L2_HUMAN Homo sapiens aldehyde dehydrogenase 1 family, member L2 (ALDH1L2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 895 Aldehyde dehydrogenase. 10-formyltetrahydrofolate catabolic process|biosynthetic process mitochondrion acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding p.G895*(1) breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2) 35 TTGTTTAACTCCGCCAAATGG 0.393000 71 30 1.7881e-09 1.1049e-08 0.001512 1 0 F7 2155 broad.mit.edu 37 13 113760179 113760179 + Silent SNP C T T TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr13:113760179C>T uc001vsv.3 + 0 75 c.24C>T c.(22-24)ctC>ctT p.L8L F7_uc010agp.1_Silent_p.L23L|F7_uc001vsw.3_Silent_p.L8L|F7_uc010tjt.2_Silent_p.L23L NM_000131 NP_000122 P08709 FA7_HUMAN Homo sapiens coagulation factor VII (serum prothrombin conversion accelerator) (F7), transcript variant 1, mRNA. 8 anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis Golgi lumen|endoplasmic reticulum lumen|plasma membrane calcium ion binding|glycoprotein binding|serine-type endopeptidase activity large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 16 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188) all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218) Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170) CCCTCAGGCTCCTCTGCCTTC 0.592000 15 7 0 0 0.000157383 0 0 SRRM2 23524 broad.mit.edu 37 16 2816697 2816698 + Missense_Mutation DNP CC TT TT rs144781002 TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr16:2816697_2816698CC>TT uc002crk.3 + 10 6717_6718 c.6168_6169CC>TT c.(6166-6171)tcccgt>tcTTgt p.R2057C SRRM2_uc002crj.1_Missense_Mutation_p.R1961C|SRRM2_uc002crl.1_Missense_Mutation_p.R2057C|SRRM2_uc010bsu.1_Missense_Mutation_p.R1961C NM_016333 NP_057417 Q9UQ35 SRRM2_HUMAN Homo sapiens serine/arginine repetitive matrix 2 (SRRM2), mRNA. 2057 Arg-rich.|Ser-rich. Cajal body|catalytic step 2 spliceosome|nuclear speck C2H2 zinc finger domain binding|RNA binding|protein N-terminus binding breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7) 105 GCTCCAGATCCCGTACTCCACG 0.564000 41 21 0 0 6.4e-05 0 0 C17orf70 80233 broad.mit.edu 37 17 79517916 79517916 + Missense_Mutation SNP G A A TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr17:79517916G>A uc002kaq.3 - 2 677 c.604C>T c.(604-606)Cca>Tca p.P202S C17orf70_uc002kao.1_5'Flank|C17orf70_uc010wuq.1_Non-coding_Transcript|C17orf70_uc002kap.3_Missense_Mutation_p.P51S NM_025161 NP_079437 Q0VG06 FP100_HUMAN Homo sapiens chromosome 17 open reading frame 70 (C17orf70), transcript variant 2, mRNA. 202 DNA repair cytoplasm|intermediate filament cytoskeleton|nucleoplasm DNA binding breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 19 all_neural(118;0.0878)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371) GAGCCTGATGGTGACACAGAG 0.672000 20 9 0 0 0.000442599 0 0 PAK7 57144 broad.mit.edu 37 20 9624913 9624913 + Missense_Mutation SNP G A A TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr20:9624913G>A uc002wnl.2 - 3 609 c.64C>T c.(64-66)Cat>Tat p.H22Y PAK7_uc002wnk.2_Missense_Mutation_p.H22Y|PAK7_uc002wnj.2_Missense_Mutation_p.H22Y|PAK7_uc010gby.1_Missense_Mutation_p.H22Y NM_020341 NP_817127 Q9P286 PAK7_HUMAN Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 7 (PAK7), transcript variant 1, mRNA. 22 CRIB. ATP binding|protein binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3) 81 COAD - Colon adenocarcinoma(9;0.194) AACCCAGTATGAACCCTGTGT 0.468000 47 31 0 0 0.000692331 0 0 LIPE 3991 broad.mit.edu 37 19 42931281 42931281 + Silent SNP T G G TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr19:42931281T>G uc002otr.3 - 0 298 c.21A>C c.(19-21)tcA>tcC p.S7S AK311181_uc010eif.1_Intron|AK310497_uc002ott.1_Intron|AK310497_uc010eig.1_Intron|AK310497_uc010eih.1_Intron NM_005357 NP_005348 Q05469 LIPS_HUMAN Homo sapiens lipase, hormone-sensitive (LIPE), mRNA. 7 cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process caveola|cytosol hormone-sensitive lipase activity|protein binding breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 32 Prostate(69;0.00682) ACCTAGACACTGACTTAGAAC 0.527000 50 23 0 0 0.000375601 0 0 CILP2 148113 broad.mit.edu 37 19 19656504 19656504 + Silent SNP C T T TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr19:19656504C>T uc002nmw.4 + 7 3253 c.3168C>T c.(3166-3168)gcC>gcT p.A1056A CILP2_uc002nmv.4_Silent_p.A1050A NM_153221 NP_694953 Q8IUL8 CILP2_HUMAN Homo sapiens cartilage intermediate layer protein 2 (CILP2), mRNA. 1050 proteinaceous extracellular matrix carbohydrate binding|carboxypeptidase activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 32 CCATGCTGGCCCCCCTAGACC 0.657000 18 7 0 0 8.12818e-05 0 0 GBF1 8729 broad.mit.edu 37 10 104140011 104140011 + Silent SNP C T T TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr10:104140011C>T uc001kux.2 + 36 5175 c.4881C>T c.(4879-4881)ttC>ttT p.F1627F GBF1_uc001kuy.2_Silent_p.F1623F|GBF1_uc001kuz.2_Silent_p.F1624F NM_004193 NP_004184 Q92538 GBF1_HUMAN Homo sapiens golgi brefeldin A resistant guanine nucleotide exchange factor 1 (GBF1), transcript variant 1, mRNA. 1627 COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane ARF guanyl-nucleotide exchange factor activity|protein binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 71 Colorectal(252;0.0236) Epithelial(162;5.16e-08)|all cancers(201;1.19e-06) CATAGGTCTTCCTGCAGCACC 0.587000 47 66 0 0 0.000781405 0 0 SERPING1 710 broad.mit.edu 37 11 57373518 57373518 + Missense_Mutation SNP C T T rs145436911 TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr11:57373518C>T uc001nkp.1 + 4 912 c.721C>T c.(721-723)Cgg>Tgg p.R241W SERPING1_uc010rju.1_Missense_Mutation_p.R189W|SERPING1_uc010rjv.1_Missense_Mutation_p.R246W|SERPING1_uc001nkr.1_Missense_Mutation_p.R241W|SERPING1_uc001nks.1_5'UTR NM_000062 NP_001027466 P05155 IC1_HUMAN Homo sapiens serpin peptidase inhibitor, clade G (C1 inhibitor), member 1 (SERPING1), transcript variant 1, mRNA. 241 blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation extracellular space|platelet alpha granule lumen protein binding|serine-type endopeptidase inhibitor activity central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1) 27 GAATGCCTCTCGGACCCTGTA 0.527000 100 20 0 0 0.000958276 0 0 CLEC4M 10332 broad.mit.edu 37 19 7831649 7831649 + Missense_Mutation SNP G A A TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr19:7831649G>A uc010dvt.3 + 4 1010 c.892G>A c.(892-894)Gaa>Aaa p.E298K CLEC4M_uc010xjv.1_3'UTR|CLEC4M_uc002mhy.2_3'UTR|CLEC4M_uc002mih.3_Missense_Mutation_p.E275K|CLEC4M_uc010xjw.2_Missense_Mutation_p.E231K|CLEC4M_uc010dvs.3_Missense_Mutation_p.E274K|CLEC4M_uc010xjx.2_Missense_Mutation_p.E247K|CLEC4M_uc002mhz.3_Missense_Mutation_p.E206K|CLEC4M_uc002mic.3_Missense_Mutation_p.E270K|CLEC4M_uc002mia.3_Missense_Mutation_p.E162K NM_001144909 NP_001138381 Q9H2X3 CLC4M_HUMAN Homo sapiens C-type lectin domain family 4, member M (CLEC4M), transcript variant 9, mRNA. 298 C-type lectin. cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor cytoplasm|extracellular region|integral to plasma membrane ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1) 26 CGCCTGCCAGGAAGTGAGGGC 0.597000 69 24 0 0 0.000878237 0 0 SIRPG 55423 broad.mit.edu 37 20 1638337 1638337 + Silent SNP G A A TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr20:1638337G>A uc002wfm.1 - 0 89 c.24C>T c.(22-24)ccC>ccT p.P8P SIRPG_uc002wfn.1_Silent_p.P8P|SIRPG_uc002wfo.1_Silent_p.P8P NM_018556 NP_061026 Q9P1W8 SIRPG_HUMAN Homo sapiens signal-regulatory protein gamma (SIRPG), transcript variant 1, mRNA. 8 blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of T cell activation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion integral to membrane|intracellular|plasma membrane protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1) 27 CAGGAGGATGGGGCCAGGAGG 0.552000 63 23 0 0 0.00047179 0 0 AK022914 0 broad.mit.edu 37 14 19857036 19857036 + RNA SNP A G G TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr14:19857036A>G uc001vvq.1 - 4 c.494T>C Homo sapiens cDNA FLJ12852 fis, clone NT2RP2003445. CTGGATAATAAAGTTCATCTC 0.373000 162 5 0 0 0.000602214 0 0 KCNG1 3755 broad.mit.edu 37 20 49626217 49626217 + Missense_Mutation SNP G A A TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr20:49626217G>A uc002xwa.4 - 1 954 c.659C>T c.(658-660)cCg>cTg p.P220L KCNG1_uc002xwb.3_Missense_Mutation_p.P220L NM_002237 NP_002228 Q9UIX4 KCNG1_HUMAN Homo sapiens potassium voltage-gated channel, subfamily G, member 1 (KCNG1), mRNA. 220 voltage-gated potassium channel complex voltage-gated potassium channel activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 CCCCGAGTGCGGCCTCTCCAC 0.726000 19 7 0 0 8.12818e-05 0 0 PDE1C 5137 broad.mit.edu 37 7 31855585 31855585 + Missense_Mutation SNP C T T TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr7:31855585C>T uc003tcm.2 - 14 2227 c.1766G>A c.(1765-1767)gGg>gAg p.G589E PDE1C_uc003tcn.1_Missense_Mutation_p.G589E|PDE1C_uc003tco.2_Missense_Mutation_p.G649E|PDE1C_uc003tcr.3_Missense_Mutation_p.G589E|PDE1C_uc003tcs.3_Missense_Mutation_p.G589E NM_001191057 NP_001177988 Q14123 PDE1C_HUMAN Homo sapiens phosphodiesterase 1C, calmodulin-dependent 70kDa (PDE1C), transcript variant 2, mRNA. 589 activation of phospholipase C activity|nerve growth factor receptor signaling pathway cytosol calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 81 GBM - Glioblastoma multiforme(11;0.216) GGAGTTTTTCCCACGAGGGTT 0.458000 189 70 0 0 0.000781405 0 0 MYADML 151325 broad.mit.edu 37 2 33952355 33952355 + Missense_Mutation SNP A G G TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr2:33952355A>G uc002rpb.3 - 0 930 c.488T>C c.(487-489)cTg>cCg p.L163P Homo sapiens myeloid-associated differentiation marker-like (MYADML), non-coding RNA. CAGCCCCAACAGGAAACTGGG 0.627000 10 17 0 0 0.00121646 0 0 SNTG1 54212 broad.mit.edu 37 8 51571223 51571224 + Splice_Site DNP GG AA AA TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr8:51571223_51571224GG>AA uc010lxy.1 + 16 1409 c.1038_splice c.e16+1 p.K346_splice SNTG1_uc003xqs.1_Splice_Site_p.K346_splice|SNTG1_uc010lxz.1_Splice_Site_p.K346_splice|SNTG1_uc011ldl.1_Splice_Site NM_018967 NP_061840 Q9NSN8 SNTG1_HUMAN Homo sapiens syntrophin, gamma 1 (SNTG1), mRNA. 346 PH. cell communication cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex actin binding|protein C-terminus binding NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 66 all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22) AGATCCTCAAGGTATGATCAAT 0.371000 39 18 0 0 6.4e-05 0 0 SLC5A3 6526 broad.mit.edu 37 21 35467791 35467791 + Silent SNP C T T TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr21:35467791C>T uc021wir.1 + 0 294 c.294C>T c.(292-294)atC>atT p.I98I SLC5A3_uc002yto.3_Silent_p.I98I|MRPS6_uc002ytp.2_Intron NM_006933 NP_008864 P53794 SC5A3_HUMAN Homo sapiens solute carrier family 5 (sodium/myo-inositol cotransporter), member 3 (SLC5A3), mRNA. 98 integral to plasma membrane myo-inositol:sodium symporter activity breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 20 GGGTTTTCATCCCAATTTACA 0.478000 232 279 0 0 0.000781405 0 0 KLC3 147700 broad.mit.edu 37 19 45850770 45850770 + Silent SNP G A A TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr19:45850770G>A uc002pbg.1 + 2 697 c.597G>A c.(595-597)agG>agA p.R199R KLC3_uc002pbf.1_Silent_p.R185R|KLC3_uc010ejy.1_Silent_p.R184R NM_177417 NP_803136 Q6P597 KLC3_HUMAN Homo sapiens kinesin light chain 3 (KLC3), mRNA. 185 cytoplasm|kinesin complex|microtubule microtubule motor activity breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1) 8 Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0226) AGGAGGAGAGGAAAGGTGGGT 0.657000 49 14 0 0 0.000219431 0 0 CUX1 1523 broad.mit.edu 37 7 101840359 101840359 + Silent SNP C T T TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr7:101840359C>T uc003uys.4 + 14 1828 c.1701C>T c.(1699-1701)atC>atT p.I567I CUX1_uc003uyw.3_Intron|CUX1_uc003uyv.3_Intron|CUX1_uc003uyt.3_Intron|CUX1_uc003uyu.3_Intron|CUX1_uc011kkn.2_Intron|CUX1_uc003uyx.4_Silent_p.I556I NM_001202543 NP_001189472 P39880 CUX1_HUMAN Homo sapiens cut-like homeobox 1 (CUX1), transcript variant 4, mRNA. 556 negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5) 70 CTGCAGAAATCGCCCGGCAGG 0.537000 138 58 0 0 0.000781405 0 0 ZNF490 57474 broad.mit.edu 37 19 12691317 12691317 + Missense_Mutation SNP A C C TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr19:12691317A>C uc002mtz.2 - 4 1701 c.1572T>G c.(1570-1572)caT>caG p.H524Q NM_020714 NP_065765 Q9ULM2 ZN490_HUMAN Homo sapiens zinc finger protein 490 (ZNF490), mRNA. 524 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|urinary_tract(1) 18 TCTGTCTACTATGAGTCCTTT 0.398000 157 50 0 0 0.000781405 0 0 KLHDC3 116138 broad.mit.edu 37 6 42985004 42985004 + Missense_Mutation SNP G A A TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr6:42985004G>A uc003otl.3 + 1 379 c.74G>A c.(73-75)cGg>cAg p.R25Q KLHDC3_uc003otn.3_5'UTR|KLHDC3_uc003otm.3_Non-coding_Transcript|KLHDC3_uc021yzr.1_Intron|KLHDC3_uc003oto.3_Missense_Mutation_p.R25Q NM_057161 NP_476502 Q9BQ90 KLDC3_HUMAN Homo sapiens kelch domain containing 3 (KLHDC3), transcript variant 1, mRNA. 25 reciprocal meiotic recombination cytoplasm|nuclear chromatin chromatin binding|protein binding cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 9 Colorectal(64;0.00237)|all cancers(41;0.0034)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0539)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188) GTCGGGCATCGGGTATACTCC 0.572000 119 11 0 0 0.000673444 0 0 IQCH 64799 broad.mit.edu 37 15 67713666 67713666 + Silent SNP C T T TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr15:67713666C>T uc002aqo.2 + 15 2353 c.2256C>T c.(2254-2256)gtC>gtT p.V752V IQCH_uc002aqp.2_Silent_p.V413V|IQCH_uc002aqq.2_Silent_p.V409V|LOC100506686_uc002aqr.2_Intron|LOC100506686_uc021spf.1_Intron NM_001031715 NP_001026885 Q86VS3 IQCH_HUMAN Homo sapiens IQ motif containing H (IQCH), transcript variant 1, mRNA. 752 NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1) 33 Colorectal(3;0.0856) CAGACAATGTCACCAACCTCA 0.517000 45 12 0 0 0.00136819 0 0 OR6V1 346517 broad.mit.edu 37 7 142749478 142749478 + Missense_Mutation SNP G A A TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr7:142749478G>A uc011ksv.2 + 0 41 c.41G>A c.(40-42)gGc>gAc p.G14D NM_001001667 NP_001001667 Q8N148 OR6V1_HUMAN Homo sapiens olfactory receptor, family 6, subfamily V, member 1 (OR6V1), mRNA. 14 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1) 20 Melanoma(164;0.059) GTCCTCTTGGGCTTCTCCTCC 0.512000 129 46 0 0 0.000781405 0 0 SELP 6403 broad.mit.edu 37 1 169588454 169588454 + Missense_Mutation SNP T G G TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr1:169588454T>G uc001ggi.4 - 1 72 c.7A>C c.(7-9)Aac>Cac p.N3H SELP_uc001ggh.3_5'UTR|SELP_uc009wvr.3_Missense_Mutation_p.N3H NM_003005 NP_002996 P16109 LYAM3_HUMAN Homo sapiens selectin P (granule membrane protein 140kDa, antigen CD62) (SELP), mRNA. 3 platelet activation|platelet degranulation|positive regulation of platelet activation external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_hematologic(923;0.208) Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775) ATTTGGCAGTTGGCCTGAAAC 0.383000 89 6 0 0 0.00116845 0 0 ALPK2 115701 broad.mit.edu 37 18 56204595 56204595 + Missense_Mutation SNP C T T TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr18:56204595C>T uc002lhj.4 - 4 3038 c.2824G>A c.(2824-2826)Gaa>Aaa p.E942K ALPK2_uc002lhk.1_Missense_Mutation_p.E273K NM_052947 NP_443179 Q86TB3 ALPK2_HUMAN Homo sapiens alpha-kinase 2 (ALPK2), mRNA. 942 E -> K (in an ovarian undifferentiated carcinoma sample; somatic mutation). ATP binding|protein serine/threonine kinase activity p.E308K(1) NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2) 84 AGCTGTGTTTCATCAAGCCCT 0.527000 33 22 0 0 0.00188189 0 0 TUBB3 10381 broad.mit.edu 37 16 90001226 90001226 + Nonsense_Mutation SNP G T T TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr16:90001226G>T uc002fpf.2 + 4 1816 c.1408G>T c.(1408-1410)Gag>Tag p.E470* TUBB3_uc010ciz.1_Nonsense_Mutation_p.E51*|TUBB3_uc002fph.2_Nonsense_Mutation_p.E123*|TUBB3_uc002fpj.1_Nonsense_Mutation_p.E51*|TUBB3_uc002fpk.1_5'UTR NM_006086 NP_006077 Q13509 TBB3_HUMAN Homo sapiens tubulin, beta 3 class III (TUBB3), transcript variant 1, mRNA. 123 'de novo' posttranslational protein folding|axon guidance|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 17 all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.0273) GGTGCGGAAGGAGTGTGAAAA 0.652000 52 18 2.4624e-09 1.51524e-08 0.00121646 1 0 DNAH7 56171 broad.mit.edu 37 2 196681592 196681592 + Missense_Mutation SNP G A A TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr2:196681592G>A uc002utj.4 - 50 9622 c.9521C>T c.(9520-9522)tCc>tTc p.S3174F NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA. 3174 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 GGCCTTGGAGGAAGATAATAT 0.403000 84 15 0 0 0.000308642 0 0 FAM113B 91523 broad.mit.edu 37 12 47629822 47629822 + Missense_Mutation SNP C T T TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr12:47629822C>T uc001rpq.3 + 1 1501 c.976C>T c.(976-978)Cat>Tat p.H326Y FAM113B_uc001rpn.3_Missense_Mutation_p.H326Y|FAM113B_uc021qxi.1_Missense_Mutation_p.H326Y NM_138371 NP_612380 Q96HM7 F113B_HUMAN Homo sapiens family with sequence similarity 113, member B (FAM113B), mRNA. 326 Pro-rich. hydrolase activity NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(10) 35 Renal(347;0.138)|Lung SC(27;0.192) tcccATTCTCCATCACCAGGG 0.592000 95 45 0 0 0.000781405 0 0 DMXL2 23312 broad.mit.edu 37 15 51830432 51830432 + Silent SNP A G G TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr15:51830432A>G uc010ufy.2 - 9 1548 c.1323T>C c.(1321-1323)ggT>ggC p.G441G DMXL2_uc002abf.3_Silent_p.G441G|DMXL2_uc010bfa.3_Silent_p.G441G NM_001174116 NP_001167587 Q8TDJ6 DMXL2_HUMAN Homo sapiens Dmx-like 2 (DMXL2), transcript variant 1, mRNA. 441 cell junction|synaptic vesicle membrane Rab GTPase binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 101 all cancers(107;0.00494) TCATATGTAAACCCCGTTCTC 0.358000 110 7 0 0 0.000274275 0 0 ZNF347 84671 broad.mit.edu 37 19 53644084 53644084 + Missense_Mutation SNP G A A TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr19:53644084G>A uc002qbc.2 - 4 2427 c.2000C>T c.(1999-2001)tCa>tTa p.S667L ZNF347_uc002qbb.2_Missense_Mutation_p.S666L|ZNF347_uc010eql.2_Missense_Mutation_p.S667L NM_001172674 NP_001166146 Q96SE7 ZN347_HUMAN Homo sapiens zinc finger protein 347 (ZNF347), transcript variant 1, mRNA. 666 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.H667Q(1) endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1) 23 GBM - Glioblastoma multiforme(134;0.0179) TGCAAGGTGTGAATTCTGAGT 0.418000 88 38 0 0 0.00195071 0 0 C12orf42 374470 broad.mit.edu 37 12 103699889 103699889 + Missense_Mutation SNP G A A TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr12:103699889G>A uc001tjt.2 - 4 582 c.494C>T c.(493-495)tCa>tTa p.S165L C12orf42_uc001tjs.3_Intron|C12orf42_uc009zuf.1_Missense_Mutation_p.S165L|C12orf42_uc001tju.2_Missense_Mutation_p.S70L NM_198521 NP_940923 Q96LP6 CL042_HUMAN Homo sapiens chromosome 12 open reading frame 42 (C12orf42), transcript variant 1, mRNA. 165 NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1) 22 TTCCAAAAATGAACTGTTCCA 0.488000 56 36 0 0 0.000491102 0 0 SLC16A14 151473 broad.mit.edu 37 2 230910676 230910676 + Missense_Mutation SNP T C C TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr2:230910676T>C uc002vqd.2 - 3 1625 c.1166A>G c.(1165-1167)aAc>aGc p.N389S FBXO36_uc010fxi.1_Intron|SLC16A14_uc002vqe.3_Missense_Mutation_p.N389S|SLC16A14_uc002vqf.3_Missense_Mutation_p.N389S NM_152527 NP_689740 Q7RTX9 MOT14_HUMAN Homo sapiens solute carrier family 16, member 14 (monocarboxylic acid transporter 14) (SLC16A14), mRNA. 389 integral to membrane|plasma membrane symporter activity NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948) AAGGGTGAAGTTGGCCAACAG 0.468000 23 16 0 0 0.000566183 0 0 SCN7A 6332 broad.mit.edu 37 2 167304175 167304175 + Missense_Mutation SNP G A A TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr2:167304175G>A uc002udu.2 - 10 1464 c.1334C>T c.(1333-1335)tCc>tTc p.S445F SCN7A_uc010fpm.2_Non-coding_Transcript NM_002976 NP_002967 Q01118 SCN7A_HUMAN Homo sapiens sodium channel, voltage-gated, type VII, alpha (SCN7A), transcript variant 1, mRNA. 445 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1) 44 TGTGTCTGTGGAAATTGGTGA 0.383000 62 48 0 0 0.000781405 0 0 B4GALNT2 124872 broad.mit.edu 37 17 47218632 47218632 + Missense_Mutation SNP A G G TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr17:47218632A>G uc002ion.2 + 1 277 c.218A>G c.(217-219)aAg>aGg p.K73R B4GALNT2_uc010wlt.1_5'UTR|B4GALNT2_uc010wlu.1_Missense_Mutation_p.K13R NM_153446 NP_001152860 Q8NHY0 B4GN2_HUMAN Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 2 (B4GALNT2), transcript variant 1, mRNA. 73 UDP-N-acetylgalactosamine metabolic process|lipid glycosylation|negative regulation of cell-cell adhesion integral to Golgi membrane acetylgalactosaminyltransferase activity endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 24 all cancers(6;0.000316) TGGCTCCTCAAGATATTGGTC 0.393000 184 80 0 0 0.000781405 0 0 RPS6KA4 8986 broad.mit.edu 37 11 64138132 64138132 + Silent SNP C T T TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr11:64138132C>T uc001oae.3 + 15 2138 c.2055C>T c.(2053-2055)ctC>ctT p.L685L RPS6KA4_uc001oad.3_Silent_p.L679L|RPS6KA4_uc010rnl.2_Silent_p.L622L|RPS6KA4_uc001oaf.3_Silent_p.L678L|RPS6KA4_uc009ypp.3_Silent_p.L437L NM_003942 NP_003933 O75676 KS6A4_HUMAN Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 4 (RPS6KA4), transcript variant 1, mRNA. 685 axon guidance|histone phosphorylation|interleukin-1-mediated signaling pathway|intracellular protein kinase cascade|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus ATP binding|magnesium ion binding|mitogen-activated protein kinase p38 binding|ribosomal protein S6 kinase activity breast(1)|endometrium(3)|lung(7)|ovary(1)|prostate(1) 13 CGCCCCCGCTCCGGACGCCCG 0.711000 8 8 0 0 0.000157383 0 0 HES1 3280 broad.mit.edu 37 3 193854430 193854430 + Nonsense_Mutation SNP A T T TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr3:193854430A>T uc003ftq.2 + 1 372 c.133A>T c.(133-135)Aga>Tga p.R45* HES1_uc011bst.2_Nonsense_Mutation_p.R45* NM_005524 NP_005515 Q14469 HES1_HUMAN Homo sapiens hairy and enhancer of split 1, (Drosophila) (HES1), mRNA. 45 Notch signaling pathway|endocrine pancreas development|negative regulation of transcription from RNA polymerase II promoter nucleus histone deacetylase binding|sequence-specific DNA binding transcription factor activity endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1) 6 all_cancers(143;7.3e-09)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;3.65e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;1.48e-05) TATGGAGAAAAGACGAAGAGC 0.428000 16 11 0 0 0.00185496 0 0 CYP1A2 1544 broad.mit.edu 37 15 75042101 75042102 + Missense_Mutation DNP CC TT TT TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr15:75042101_75042102CC>TT uc002ayr.1 + 1 86_87 c.22_23CC>TT c.(22-24)ccc>TTc p.P8F NM_000761 NP_000752 P05177 CP1A2_HUMAN Homo sapiens cytochrome P450, family 1, subfamily A, polypeptide 2 (CYP1A2), mRNA. 8 alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 33 Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315) CCAGTCTGTTCCCTTCTCGGCC 0.535000 214 88 0 0 6.4e-05 0 0 ANAPC7 51434 broad.mit.edu 37 12 110812041 110812041 + Missense_Mutation SNP T A A TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr12:110812041T>A uc001tqo.2 - 10 1709 c.1708A>T c.(1708-1710)Atg>Ttg p.M570L NM_016238 NP_057322 Q9UJX3 APC7_HUMAN Homo sapiens anaphase promoting complex subunit 7 (ANAPC7), transcript variant 1, mRNA. 570 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm protein phosphatase binding breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(1) 19 CTCCCTTCCATGTCGTCCACA 0.612000 115 5 0 0 8.12818e-05 0 0 PROC 5624 broad.mit.edu 37 2 128186177 128186177 + Missense_Mutation SNP C A A TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr2:128186177C>A uc002tol.3 + 8 1131 c.1104C>A c.(1102-1104)agC>agA p.S368R PROC_uc002tok.3_Missense_Mutation_p.S347R|PROC_uc010yzi.2_Missense_Mutation_p.S403R|PROC_uc010yzj.2_Missense_Mutation_p.S242R|PROC_uc010yzk.2_Missense_Mutation_p.S402R NM_000312 NP_000303 P04070 PROC_HUMAN Homo sapiens protein C (inactivator of coagulation factors Va and VIIIa) (PROC), mRNA. 347 Peptidase S1. blood coagulation|leukocyte migration|negative regulation of apoptosis|negative regulation of blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis Golgi lumen|endoplasmic reticulum lumen|plasma membrane calcium ion binding|protein binding|serine-type endopeptidase activity endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1) 15 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0673) Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464) ACCACAGCAGCCGAGAGAAGG 0.617000 135 9 3.09899e-07 1.89909e-06 0.000274275 1 0 CYP4F12 66002 broad.mit.edu 37 19 15784510 15784510 + Silent SNP G A A TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr19:15784510G>A uc002nbl.3 + 1 290 c.171G>A c.(169-171)cgG>cgA p.R57R CYP4F12_uc010xoo.2_Silent_p.R57R|CYP4F12_uc010xop.2_Silent_p.R57R NM_023944 NP_076433 Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 12 (CYP4F12), mRNA. NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 41 Acute lymphoblastic leukemia(2;0.0367) CCCCAAAACGGAACTGGTTTT 0.587000 91 41 0 0 0.000509022 0 0 IL19 29949 broad.mit.edu 37 1 207010336 207010336 + Silent SNP C T T TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr1:207010336C>T uc001hep.3 + 3 1117 c.178C>T c.(178-180)Ctg>Ttg p.L60L IL19_uc001heo.3_Silent_p.L98L|IL19_uc010prx.1_Silent_p.L60L NM_013371 NP_037503 Q9UHD0 IL19_HUMAN Homo sapiens interleukin 19 (IL19), transcript variant 2, mRNA. 60 apoptosis|immune response|signal transduction extracellular space cytokine activity central_nervous_system(2)|large_intestine(1)|lung(2)|ovary(1)|stomach(1) 7 BRCA - Breast invasive adenocarcinoma(75;0.211) TGTCACTATCCTGTCCACATT 0.428000 79 42 0 0 0.000781405 0 0 NEK5 341676 broad.mit.edu 37 13 52646132 52646132 + Silent SNP C T T TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr13:52646132C>T uc001vge.3 - 20 2012 c.1872G>A c.(1870-1872)gaG>gaA p.E624E NM_199289 NP_954983 Q6P3R8 NEK5_HUMAN Homo sapiens NIMA (never in mitosis gene a)-related kinase 5 (NEK5), mRNA. 624 ATP binding|metal ion binding|protein serine/threonine kinase activity breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 39 Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;3.7e-08) AATCTCCATGCTCCTTTACAC 0.358000 26 16 0 0 0.000308642 0 0 FMO1 2326 broad.mit.edu 37 1 171251294 171251294 + Silent SNP C T T TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr1:171251294C>T uc009wvz.3 + 6 1141 c.1005C>T c.(1003-1005)ttC>ttT p.F335F FMO1_uc010pme.2_Silent_p.F272F|FMO1_uc001ghl.3_Silent_p.F335F|FMO1_uc001ghm.3_Silent_p.F335F NM_002021 NP_002012 Q01740 FMO1_HUMAN Homo sapiens flavin containing monooxygenase 1 (FMO1), mRNA. 335 NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome NADP binding|flavin adenine dinucleotide binding|flavin-containing monooxygenase activity NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2) 27 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) CATTTGCTTTCCCCTTCCTTG 0.418000 69 39 0 0 0.00148497 0 0 LHX4 89884 broad.mit.edu 37 1 180217561 180217561 + Missense_Mutation SNP G A A TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr1:180217561G>A uc001goe.2 + 1 450 c.218G>A c.(217-219)gGg>gAg p.G73E NM_033343 NP_203129 Q969G2 LHX4_HUMAN Homo sapiens LIM homeobox 4 (LHX4), mRNA. 73 LIM zinc-binding 1. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1) 16 TCCAGGGCTGGGAGCGTCTAC 0.587000 58 27 0 0 0.000720815 0 0 ADAM7 8756 broad.mit.edu 37 8 24300054 24300054 + Nonsense_Mutation SNP C T T TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr8:24300054C>T uc003xeb.3 + 1 234 c.121C>T c.(121-123)Cga>Tga p.R41* ADAM7_uc003xea.1_Nonsense_Mutation_p.R41* NM_003817 NP_003808 Q9H2U9 ADAM7_HUMAN Homo sapiens ADAM metallopeptidase domain 7 (ADAM7), mRNA. 41 proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15) 64 Prostate(55;0.0181) Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182) GATACAGAAGCGAGATACTGG 0.403000 160 53 0 0 0.000781405 0 0 BC063132 0 broad.mit.edu 37 GL000241.1 22797 22797 + RNA SNP C T T TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chrGL000241.1:22797C>T uc011mgv.2 - 5 c.623G>A Homo sapiens cDNA clone IMAGE:4673444, containing frame-shift errors. ACAACAAGTTCATCTGAATTT 0.323000 106 5 0 0 8.12818e-05 0 0 DOK7 285489 broad.mit.edu 37 4 3495069 3495069 + Silent SNP G A A TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr4:3495069G>A uc003ghd.3 + 6 1426 c.1356G>A c.(1354-1356)cgG>cgA p.R452R DOK7_uc003ghe.3_3'UTR|DOK7_uc003ghf.3_Missense_Mutation_p.G194E|DOK7_uc003ghg.1_Silent_p.R142R NM_173660 NP_775931 Q18PE1 DOK7_HUMAN Homo sapiens docking protein 7 (DOK7), transcript variant 1, mRNA. 452 positive regulation of protein tyrosine kinase activity cell junction|synapse insulin receptor binding|protein kinase binding kidney(1)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1) 5 UCEC - Uterine corpus endometrioid carcinoma (64;0.163) CGAGACGGCGGGGCCTGGTGA 0.776000 6 7 0 0 0.000157383 0 0 RND1 27289 broad.mit.edu 37 12 49255804 49255804 + Silent SNP G A A TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr12:49255804G>A uc001rsn.3 - 2 409 c.306C>T c.(304-306)agC>agT p.S102S NM_014470 NP_055285 Q92730 RND1_HUMAN Homo sapiens Rho family GTPase 1 (RND1), mRNA. 102 actin filament organization|axon guidance|negative regulation of cell adhesion|neuron remodeling|small GTPase mediated signal transduction adherens junction|cytoskeleton|cytosol GTP binding|GTPase activity|receptor binding breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(2)|skin(1)|urinary_tract(1) 10 TCTTGAGTGCGCTGTCCACTG 0.473000 86 35 0 0 0.000953801 0 0 DNAH5 1767 broad.mit.edu 37 5 13911497 13911497 + Missense_Mutation SNP G A A TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr5:13911497G>A uc003jfd.2 - 11 1684 c.1642C>T c.(1642-1644)Cat>Tat p.H548Y DNAH5_uc003jfe.1_Non-coding_Transcript NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 548 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) CAACCTACATGAAGGTCATTA 0.363000 Kartagener syndrome 49 14 0 0 0.000308642 0 0 MYO5B 4645 broad.mit.edu 37 18 47511176 47511176 + Silent SNP G A A TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr18:47511176G>A uc002leb.2 - 7 1146 c.858C>T c.(856-858)ttC>ttT p.F286F MYO5B_uc021ukb.1_Silent_p.F285F NM_001080467 NP_001073936 Q9ULV0 MYO5B_HUMAN Homo sapiens myosin VB (MYO5B), mRNA. 286 Myosin head-like. protein transport myosin complex ATP binding|actin binding|calmodulin binding|motor activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4) 87 READ - Rectum adenocarcinoma(32;0.103) GTGATGTATAGAAAAAGTCCT 0.512000 58 7 0 0 0.000157383 0 0 GRIN3A 116443 broad.mit.edu 37 9 104433233 104433233 + Silent SNP T C C TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr9:104433233T>C uc004bbp.2 - 2 2062 c.1461A>G c.(1459-1461)ggA>ggG p.G487G GRIN3A_uc004bbq.1_Silent_p.G487G NM_133445 NP_597702 Q8TCU5 NMD3A_HUMAN Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3A (GRIN3A), mRNA. 487 G -> R (in dbSNP:rs10989589). response to ethanol N-methyl-D-aspartate selective glutamate receptor complex|cell junction|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|protein phosphatase 2A binding p.G487E(1) breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1) 80 Acute lymphoblastic leukemia(62;0.0568) Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740) TGACAATCTTTCCCCCCTGCC 0.502000 161 7 0 0 0.000157383 0 0 TAF1C 9013 broad.mit.edu 37 16 84212771 84212771 + Nonsense_Mutation SNP G A A TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr16:84212771G>A uc002fhn.3 - 13 2628 c.2386C>T c.(2386-2388)Cag>Tag p.Q796* TAF1C_uc010vnz.2_Nonsense_Mutation_p.Q464*|TAF1C_uc002fho.3_Nonsense_Mutation_p.Q319*|TAF1C_uc010voa.2_Nonsense_Mutation_p.Q464*|TAF1C_uc002fhm.3_Nonsense_Mutation_p.Q702*|TAF1C_uc010vnx.2_Nonsense_Mutation_p.Q770*|TAF1C_uc010vny.2_Nonsense_Mutation_p.Q387* NM_005679 NP_001230088 Q15572 TAF1C_HUMAN Homo sapiens TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa (TAF1C), transcript variant 1, mRNA. 796 regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter nucleoplasm DNA binding endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 26 GTCAACTCCTGGGAGGGCGGG 0.662000 13 9 0 0 0.000442599 0 0 EDEM2 55741 broad.mit.edu 37 20 33703408 33703408 + Missense_Mutation SNP G A A rs146309337 byFrequency TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr20:33703408G>A uc002xbo.2 - 10 1665 c.1565C>T c.(1564-1566)tCg>tTg p.S522L EDEM2_uc010zus.1_Missense_Mutation_p.S301L|EDEM2_uc002xbq.2_Missense_Mutation_p.S485L|EDEM2_uc010zut.1_Missense_Mutation_p.S481L|EDEM2_uc002xbn.2_Missense_Mutation_p.S370L|EDEM2_uc010zuu.1_Missense_Mutation_p.S246L NM_018217 NP_060687 Q9BV94 EDEM2_HUMAN Homo sapiens ER degradation enhancer, mannosidase alpha-like 2 (EDEM2), transcript variant 1, mRNA. 522 post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding|response to unfolded protein endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2) 22 BRCA - Breast invasive adenocarcinoma(18;0.00936) CCATGGCCCCGAACTAACAGT 0.522000 189 103 0 0 0.000781405 0 0 ADAM7 8756 broad.mit.edu 37 8 24300024 24300024 + Missense_Mutation SNP C T T rs137990671 TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr8:24300024C>T uc003xeb.3 + 1 204 c.91C>T c.(91-93)Cgt>Tgt p.R31C ADAM7_uc003xea.1_Missense_Mutation_p.R31C NM_003817 NP_003808 Q9H2U9 ADAM7_HUMAN Homo sapiens ADAM metallopeptidase domain 7 (ADAM7), mRNA. 31 proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding p.R31C(6) NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15) 64 Prostate(55;0.0181) Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182) ACAACTGGTTCGTCCTAAAAA 0.403000 214 72 0 0 0.000781405 0 0 AQP11 282679 broad.mit.edu 37 11 77301464 77301464 + Silent SNP C T T TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr11:77301464C>T uc001oyj.3 + 0 785 c.427C>T c.(427-429)Ctg>Ttg p.L143L AQP11_uc009yuu.3_Intron NM_173039 NP_766627 Q8NBQ7 AQP11_HUMAN Homo sapiens aquaporin 11 (AQP11), mRNA. 143 cell surface|integral to membrane transporter activity kidney(2)|large_intestine(1)|lung(5) 8 all_cancers(14;1.75e-17)|all_epithelial(13;4.7e-20)|Ovarian(111;0.249) Epithelial(5;4.73e-49)|BRCA - Breast invasive adenocarcinoma(5;1.4e-30) GAGCTTGGGTCTGACCCAGTA 0.597000 38 23 0 0 0.000375601 0 0 PIAS2 9063 broad.mit.edu 37 18 44408073 44408073 + Missense_Mutation SNP G A A TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr18:44408073G>A uc002lck.3 - 10 1544 c.1357C>T c.(1357-1359)Cct>Tct p.P453S PIAS2_uc010dnp.3_Missense_Mutation_p.P151S|PIAS2_uc010xda.2_Missense_Mutation_p.P151S|PIAS2_uc002lcl.3_Missense_Mutation_p.P453S|PIAS2_uc002lcm.3_Missense_Mutation_p.P453S NM_004671 NP_004662 O75928 PIAS2_HUMAN Homo sapiens protein inhibitor of activated STAT, 2 (PIAS2), transcript variant beta, mRNA. 453 androgen receptor signaling pathway|negative regulation of androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent PML body|nuclear speck DNA binding|SUMO ligase activity|androgen receptor binding|protein binding|transcription coactivator activity|zinc ion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 22 ACTGAACAAGGCTTACTGAGG 0.383000 48 12 0 0 0.000308642 0 0 DUSP27 92235 broad.mit.edu 37 1 167095025 167095025 + Splice_Site SNP G A A TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr1:167095025G>A uc001geb.1 + 5 672 c.656_splice c.e5-1 p.G219_splice NM_001080426 NP_001073895 Q5VZP5 DUS27_HUMAN Homo sapiens dual specificity phosphatase 27 (putative) (DUSP27), mRNA. 219 Tyrosine-protein phosphatase. protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3) 89 TCATTTCAGGGAAAGTCCTGG 0.453000 25 15 0 0 0.000219431 0 0 TSC2 7249 broad.mit.edu 37 16 2098705 2098705 + Missense_Mutation SNP C A A TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr16:2098705C>A uc002con.3 + 1 195 c.89C>A c.(88-90)tCt>tAt p.S30Y TCRBV20S1_uc021tak.1_Intron|NTHL1_uc002col.1_5'Flank|TSC2_uc010uvu.1_Missense_Mutation_p.S30Y|TSC2_uc010bsd.3_Missense_Mutation_p.S30Y|TSC2_uc002coo.3_Missense_Mutation_p.S30Y|TSC2_uc010uvv.2_Missense_Mutation_p.S30Y|TSC2_uc010uvw.2_Intron|TSC2_uc002cop.3_5'UTR NM_000548 NP_000539 P49815 TSC2_HUMAN Homo sapiens tuberous sclerosis 2 (TSC2), transcript variant 1, mRNA. 30 Required for interaction with TSC1. cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction Golgi apparatus|TSC1-TSC2 complex|nucleus|perinuclear region of cytoplasm GTPase activator activity|protein homodimerization activity NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1) 56 Hepatocellular(780;0.0202) AATCCCAGGTCTGCAGAGGGT 0.498000 """D, Mis, N, F, S""" """hamartoma, renal cell""" Tuberous Sclerosis 68 24 7.87624e-14 4.90776e-13 0.000375601 1 0 DNAH5 1767 broad.mit.edu 37 5 13727715 13727715 + Silent SNP C T T TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr5:13727715C>T uc003jfd.2 - 69 11976 c.11934G>A c.(11932-11934)ccG>ccA p.P3978P DNAH5_uc003jfc.2_Silent_p.P146P NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 3978 microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) GTTCCTCCTCCGGGTTTTCCT 0.423000 Kartagener syndrome 29 17 0 0 0.00074312 0 0 AXL 558 broad.mit.edu 37 19 41754431 41754431 + Missense_Mutation SNP G A A TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr19:41754431G>A uc010ehj.3 + 12 1740 c.1550G>A c.(1549-1551)gGc>gAc p.G517D AXL_uc010ehk.3_Missense_Mutation_p.G508D NM_021913 NP_068713 P30530 UFO_HUMAN Homo sapiens AXL receptor tyrosine kinase (AXL), transcript variant 1, mRNA. 517 integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1) 48 AACAGCCTGGGCATCAGTGAA 0.582000 39 24 0 0 0.000339439 0 0 CROCCP2 84809 broad.mit.edu 37 1 16946407 16946407 + RNA SNP T G G rs10796418 by1000genomes TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr1:16946407T>G uc010ocf.2 - 2 c.491A>C CROCCP2_uc009vov.2_Non-coding_Transcript|CROCCP2_uc001aze.3_Non-coding_Transcript|CROCCP2_uc001azf.3_Non-coding_Transcript Homo sapiens ciliary rootlet coiled-coil, rootletin pseudogene 2 (CROCCP2), non-coding RNA. AGCAATCTCCTCACTCAGCTG 0.672000 17 3 0 0 0.000602214 0 0 AFM 173 broad.mit.edu 37 4 74350021 74350021 + Missense_Mutation SNP G A A TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr4:74350021G>A uc003hhb.3 + 2 215 c.184G>A c.(184-186)Gaa>Aaa p.E62K NM_001133 NP_001124 P43652 AFAM_HUMAN Homo sapiens afamin (AFM), mRNA. 62 Albumin 1. vitamin transport vitamin E binding breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 32 Breast(15;0.00102) Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) AACCTTTGAAGAAATGGAAAA 0.403000 23 22 0 0 0.00188189 0 0 BOC 91653 broad.mit.edu 37 3 112968657 112968657 + Missense_Mutation SNP G A A TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr3:112968657G>A uc003dzx.3 + 2 629 c.8G>A c.(7-9)cGt>cAt p.R3H BOC_uc010hqi.3_Missense_Mutation_p.R3H|BOC_uc003dzy.3_Missense_Mutation_p.R3H|BOC_uc003dzz.3_Missense_Mutation_p.R3H|BOC_uc003dzw.1_Missense_Mutation_p.R3H|BOC_uc003eaa.1_Missense_Mutation_p.R3H NM_033254 NP_150279 Q9BWV1 BOC_HUMAN Homo sapiens Boc homolog (mouse) (BOC), mRNA. 3 cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation integral to membrane|plasma membrane protein binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 Epithelial(53;0.227) ACCATGCTGCGTGGGACGATG 0.557000 23 24 0 0 0.00127121 0 0 ENGASE 64772 broad.mit.edu 37 17 77081744 77081744 + Silent SNP C T T TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr17:77081744C>T uc002jwv.3 + 12 1751 c.1743C>T c.(1741-1743)ctC>ctT p.L581L ENGASE_uc002jww.3_Silent_p.L286L NM_001042573 NP_001036038 Q8NFI3 ENASE_HUMAN Homo sapiens endo-beta-N-acetylglucosaminidase (ENGASE), mRNA. 581 cytosol mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1) 25 TGCTAGACCTCCTCGTTTGCT 0.657000 47 15 0 0 0.00152264 0 0 CYP4F3 4051 broad.mit.edu 37 19 15754856 15754856 + Missense_Mutation SNP C T T TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr19:15754856C>T uc010xok.2 + 2 388 c.338C>T c.(337-339)gCc>gTc p.A113V CYP4F3_uc010xol.2_Missense_Mutation_p.A113V|CYP4F3_uc002nbj.3_Intron|CYP4F3_uc010xom.2_5'UTR|CYP4F3_uc002nbk.3_Missense_Mutation_p.A113V NM_001199208 NP_001186137 Q08477 CP4F3_HUMAN Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 3 (CYP4F3), transcript variant 2, mRNA. 113 leukotriene metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1) 34 GTCATCAACGCCTCAGGTACC 0.582000 42 9 0 0 0.000673444 0 0 BEST3 144453 broad.mit.edu 37 12 70049472 70049472 + Missense_Mutation SNP G A A TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr12:70049472G>A uc001svg.3 - 9 1449 c.1222C>T c.(1222-1224)Ccc>Tcc p.P408S BEST3_uc001svd.2_Intron|BEST3_uc001svf.3_Missense_Mutation_p.P195S|BEST3_uc010stm.2_Missense_Mutation_p.P302S NM_032735 NP_116124 Q8N1M1 BEST3_HUMAN Homo sapiens bestrophin 3 (BEST3), transcript variant 1, mRNA. 408 chloride channel complex|plasma membrane chloride channel activity cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2) 12 Breast(13;2.31e-06)|Esophageal squamous(21;0.187) Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694) CTTCTTCTGGGGCTGGAGGGG 0.557000 109 54 0 0 0.000781405 0 0 ME1 4199 broad.mit.edu 37 6 83933597 83933597 + Missense_Mutation SNP C T T TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr6:83933597C>T uc003pjy.3 - 11 1596 c.1331G>A c.(1330-1332)gGa>gAa p.G444E ME1_uc011dzb.2_Missense_Mutation_p.G369E|ME1_uc011dzc.2_Missense_Mutation_p.G278E NM_002395 NP_002386 P48163 MAOX_HUMAN Homo sapiens malic enzyme 1, NADP(+)-dependent, cytosolic (ME1), mRNA. 444 NGQTLY -> DGRTLF (in Ref. 2; AAB01380). NADP biosynthetic process|carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|response to carbohydrate stimulus|response to hormone stimulus cytosol ADP binding|NAD binding|NADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218) BRCA - Breast invasive adenocarcinoma(397;0.0641) NADH(DB00157) TAGGGTCTGTCCATTTGGAAG 0.438000 23 4 0 0 0.00024832 0 0 FCRL5 83416 broad.mit.edu 37 1 157516848 157516848 + Missense_Mutation SNP T G G TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr1:157516848T>G uc009wsm.3 - 2 350 c.192A>C c.(190-192)aaA>aaC p.K64N FCRL5_uc001fqu.3_Missense_Mutation_p.K64N|FCRL5_uc010phv.1_Missense_Mutation_p.K64N|FCRL5_uc010phw.1_Intron|FCRL5_uc001fqv.1_Missense_Mutation_p.K64N|FCRL5_uc010phx.2_5'UTR NM_001195388 NP_001182317 Q96RD9 FCRL5_HUMAN Homo sapiens Fc receptor-like 5 (FCRL5), transcript variant 2, mRNA. 64 Ig-like C2-type 1. integral to membrane|plasma membrane receptor activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 85 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.231) TTAGTATTTCTTTCCCAAGGT 0.502000 100 5 0 0 0.000602214 0 0 ZZEF1 23140 broad.mit.edu 37 17 4020382 4020382 + Missense_Mutation SNP T C C TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr17:4020382T>C uc002fxe.3 - 2 642 c.578A>G c.(577-579)aAt>aGt p.N193S ZZEF1_uc002fxk.1_Missense_Mutation_p.N193S NM_015113 NP_055928 O43149 ZZEF1_HUMAN Homo sapiens zinc finger, ZZ-type with EF-hand domain 1 (ZZEF1), mRNA. 193 calcium ion binding|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 84 GGAGAGCCGATTGCGGTGCAG 0.507000 117 51 0 0 0.000781405 0 0 MYH6 4624 broad.mit.edu 37 14 23865948 23865948 + Silent SNP G A A TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr14:23865948G>A uc001wjv.3 - 18 2318 c.2247C>T c.(2245-2247)agC>agT p.S749S NM_002471 NP_002462 P13533 MYH6_HUMAN Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA. 749 Myosin head-like. adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 119 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) TGTCCAGAGAGCTGAGCAGCT 0.557000 38 37 0 0 0.000953801 0 0 PRAMEF11 440560 broad.mit.edu 37 1 12887470 12887470 + Silent SNP T C C TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr1:12887470T>C uc001auk.2 - 2 583 c.387A>G c.(385-387)ctA>ctG p.L129L NM_001146344 NP_001139816 O60813 PRA11_HUMAN Homo sapiens PRAME family member 11 (PRAMEF11), mRNA. 129 NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1) 27 GCTTGACCCATAGAAGGAGGC 0.468000 87 6 0 0 0.000673444 0 0 NMUR2 56923 broad.mit.edu 37 5 151784666 151784667 + Missense_Mutation DNP CC TT TT TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr5:151784666_151784667CC>TT uc003luv.2 - 0 174_175 c.8_9GG>AA c.(7-9)ggg>gAA p.G3E NM_020167 NP_064552 Q9GZQ4 NMUR2_HUMAN Homo sapiens neuromedin U receptor 2 (NMUR2), mRNA. 3 activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction integral to membrane|plasma membrane GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 44 Medulloblastoma(196;0.091)|all_hematologic(541;0.103) Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672) GTTTTTCCATCCCTGACATTAA 0.431000 89 26 0 0 6.4e-05 0 0 BBS1 582 broad.mit.edu 37 11 66287153 66287153 + Silent SNP G A A TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr11:66287153G>A uc001oii.1 + 7 846 c.768G>A c.(766-768)ctG>ctA p.L256L BBS1_uc010rpf.1_Non-coding_Transcript|BBS1_uc001oil.1_Silent_p.L219L|BBS1_uc010rpg.1_Intron|BBS1_uc001oij.1_Silent_p.L219L|BBS1_uc001oik.1_Silent_p.L143L NM_024649 NP_078925 Q8NFJ9 BBS1_HUMAN Homo sapiens Bardet-Biedl syndrome 1 (BBS1), mRNA. 219 nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis BBSome|cilium membrane|cytoplasm protein binding NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1) 28 TGTCTTGCCTGGTGCTGGGCA 0.597000 Bardet-Biedl syndrome 56 14 0 0 0.000422831 0 0 NCR1 9437 broad.mit.edu 37 19 55420643 55420643 + Missense_Mutation SNP C T T TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr19:55420643C>T uc002qib.2 + 3 433 c.395C>T c.(394-396)cCc>cTc p.P132L NCR1_uc002qic.2_Missense_Mutation_p.P132L|NCR1_uc002qie.2_Missense_Mutation_p.P132L|NCR1_uc002qid.2_Missense_Mutation_p.P37L|NCR1_uc002qif.2_Missense_Mutation_p.P37L|NCR1_uc010esj.2_Missense_Mutation_p.P25L NM_004829 NP_004820 O76036 NCTR1_HUMAN Homo sapiens natural cytotoxicity triggering receptor 1 (NCR1), transcript variant 1, mRNA. 132 Ig-like 2. cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity SWI/SNF complex|integral to plasma membrane receptor activity|receptor signaling protein activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1) 18 GBM - Glioblastoma multiforme(193;0.0449) CATCCTGGACCCGAAGTGATC 0.512000 34 17 0 0 0.000422831 0 0 SLC43A1 8501 broad.mit.edu 37 11 57268284 57268284 + Missense_Mutation SNP C T T TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr11:57268284C>T uc001nkk.3 - 4 551 c.433G>A c.(433-435)Ggt>Agt p.G145S SLC43A1_uc001nkl.3_Missense_Mutation_p.G145S NM_001198810 NP_001185739 O75387 LAT3_HUMAN Homo sapiens solute carrier family 43, member 1 (SLC43A1), transcript variant 2, mRNA. 145 cellular nitrogen compound metabolic process|ion transport integral to plasma membrane neutral amino acid transmembrane transporter activity breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 19 CAGATGCCACCAAAGCCATTC 0.592000 20 14 0 0 0.000219431 0 0 COL22A1 169044 broad.mit.edu 37 8 139611073 139611073 + Silent SNP G A A TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr8:139611073G>A uc003yvd.3 - 60 4701 c.4254C>T c.(4252-4254)atC>atT p.I1418I COL22A1_uc011ljo.2_Silent_p.I698I NM_152888 NP_690848 Q8NFW1 COMA1_HUMAN Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA. 1418 Collagen-like 14.|Gly-rich.|Pro-rich. cell adhesion collagen|cytoplasm structural molecule activity p.G1417*(1) breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) TGTGGCCTGGGATTCCAGGGT 0.592000 HNSCC(7;0.00092) 49 13 0 0 0.000308642 0 0 KCNB1 3745 broad.mit.edu 37 20 47989844 47989844 + Silent SNP A C C TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr20:47989844A>C uc002xur.1 - 1 2419 c.2253T>G c.(2251-2253)ggT>ggG p.G751G KCNB1_uc002xus.1_Silent_p.G751G NM_004975 NP_004966 Q14721 KCNB1_HUMAN Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 1 (KCNB1), mRNA. 751 energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity p.G751G(4) central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1) 53 BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) ACTGGTGGACACCCGCCTCAA 0.572000 169 19 0 0 0.000509022 0 0 ALG10 84920 broad.mit.edu 37 12 34179674 34179674 + Missense_Mutation SNP C T T TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr12:34179674C>T uc001rlm.3 + 2 1565 c.1246C>T c.(1246-1248)Cgt>Tgt p.R416C NM_032834 NP_116223 Q5BKT4 AG10A_HUMAN Homo sapiens asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog (S. pombe) (ALG10), mRNA. 416 dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 26 Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429) Lung NSC(34;0.204)|all_lung(34;0.235) GCTGGAATTTCGTTACTTCAT 0.348000 156 69 0 0 0.000781405 0 0 SLC6A5 9152 broad.mit.edu 37 11 20673876 20673876 + Silent SNP C T T TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr11:20673876C>T uc001mqd.3 + 14 2385 c.2112C>T c.(2110-2112)acC>acT p.T704T SLC6A5_uc009yic.3_Silent_p.T469T NM_004211 NP_004202 Q9Y345 SC6A5_HUMAN Homo sapiens solute carrier family 6 (neurotransmitter transporter, glycine), member 5 (SLC6A5), mRNA. 704 synaptic transmission integral to membrane|plasma membrane glycine:sodium symporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 63 Glycine(DB00145) AGCCCATGACCTATGGCTCTT 0.468000 65 55 0 0 0.000781405 0 0 ZHX1 11244 broad.mit.edu 37 8 124266335 124266335 + Missense_Mutation SNP C G G TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr8:124266335C>G uc003yqe.3 - 2 2462 c.1852G>C c.(1852-1854)Gag>Cag p.E618Q C8orf76_uc003yqd.3_Intron|ZHX1_uc003yqf.3_Missense_Mutation_p.E618Q|ZHX1_uc003yqg.3_Intron|ZHX1_uc010mdi.3_Missense_Mutation_p.E618Q|ZHX1_uc022bak.1_Missense_Mutation_p.E618Q NM_007222 NP_009153 Q9UKY1 ZHX1_HUMAN Homo sapiens zinc fingers and homeoboxes 1 (ZHX1), transcript variant 2, mRNA. 618 negative regulation of transcription, DNA-dependent nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 29 Lung NSC(37;1.25e-09)|Ovarian(258;0.0154) STAD - Stomach adenocarcinoma(47;0.00527) TTCTTCTTCTCTGTAAACCAA 0.373000 75 18 0 0 0.00152264 0 0 CTAGE1 64693 broad.mit.edu 37 18 19995558 19995558 + Silent SNP G A A TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr18:19995558G>A uc002ktv.1 - 0 2321 c.2217C>T c.(2215-2217)ttC>ttT p.F739F NM_172241 NP_758441 Q96RT6 CTGE2_HUMAN Homo sapiens cutaneous T-cell lymphoma-associated antigen 1 (CTAGE1), transcript variant 1, mRNA. 739 Pro-rich. integral to membrane cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1) 27 all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135) GGGCTGGGGGGAAAAATGCAG 0.498000 13 11 0 0 0.000978159 0 0 IL5RA 3568 broad.mit.edu 37 3 3137117 3137117 + Missense_Mutation SNP G A A TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr3:3137117G>A uc011ask.2 - 8 1365 c.721C>T c.(721-723)Cct>Tct p.P241S IL5RA_uc010hbq.3_Intron|IL5RA_uc010hbr.3_Intron|IL5RA_uc010hbs.3_Missense_Mutation_p.P241S|IL5RA_uc011asl.2_Missense_Mutation_p.P241S|IL5RA_uc011asm.1_Missense_Mutation_p.P241S|IL5RA_uc010hbt.2_Missense_Mutation_p.P241S|IL5RA_uc011asn.1_Missense_Mutation_p.P241S|IL5RA_uc010hbu.2_Missense_Mutation_p.P241S NM_000564 NP_783853 Q01344 IL5RA_HUMAN Homo sapiens interleukin 5 receptor, alpha (IL5RA), transcript variant 1, mRNA. 241 cell proliferation extracellular space|integral to membrane|plasma membrane interleukin-5 receptor activity cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2) 24 Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944) TTCAGTGGAGGATTTATTTGA 0.388000 16 18 0 0 0.00121646 0 0 ADAM7 8756 broad.mit.edu 37 8 24324332 24324332 + Missense_Mutation SNP A G G TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr8:24324332A>G uc003xeb.3 + 5 523 c.410A>G c.(409-411)gAc>gGc p.D137G ADAM7_uc003xea.1_Missense_Mutation_p.D137G NM_003817 NP_003808 Q9H2U9 ADAM7_HUMAN Homo sapiens ADAM metallopeptidase domain 7 (ADAM7), mRNA. 137 proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15) 64 Prostate(55;0.0181) Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182) AGAATAAACGACCAAAGATAC 0.373000 79 15 0 0 0.000219431 0 0 CCR3 1232 broad.mit.edu 37 3 46306898 46306898 + Silent SNP C T T TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr3:46306898C>T uc003cpl.2 + 2 1379 c.348C>T c.(346-348)ttC>ttT p.F116F CCR3_uc003cpg.2_Silent_p.F83F|CCR3_uc003cpk.2_Silent_p.F104F|CCR3_uc003cpi.2_Silent_p.F83F|CCR3_uc010hjb.2_Silent_p.F101F|CCR3_uc003cpj.2_Silent_p.F83F|CCR3_uc021wwz.1_Silent_p.F83F NM_178329 NP_847899 P51677 CCR3_HUMAN Homo sapiens chemokine (C-C motif) receptor 3 (CCR3), transcript variant 2, mRNA. 83 G-protein signaling, coupled to cAMP nucleotide second messenger|cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis integral to plasma membrane breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1) 18 BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216) ACCTGCTCTTCCTCGTCACCC 0.502000 76 80 0 0 0.000781405 0 0 WDR20 91833 broad.mit.edu 37 14 102675478 102675478 + Missense_Mutation SNP C T T TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr14:102675478C>T uc010txu.2 + 3 1136 c.1064C>T c.(1063-1065)cCt>cTt p.P355L WDR20_uc001ylf.3_Missense_Mutation_p.P336L|WDR20_uc001ykz.3_Missense_Mutation_p.P324L|WDR20_uc001yky.2_Missense_Mutation_p.P67L|WDR20_uc001yla.3_3'UTR|WDR20_uc001ylb.3_Missense_Mutation_p.P263L|WDR20_uc001ylc.3_Intron|WDR20_uc001yle.3_Missense_Mutation_p.P263L|WDR20_uc001yld.3_Missense_Mutation_p.P324L NM_001242417 NP_001229346 Q8TBZ3 WDR20_HUMAN Homo sapiens WD repeat domain 20 (WDR20), transcript variant 7, mRNA. 324 breast(1)|large_intestine(2)|lung(4)|prostate(1) 8 GAAGGTGACCCTATGGAGTTT 0.493000 22 22 0 0 0.000375601 0 0 BRCA2 675 broad.mit.edu 37 13 32913284 32913284 + Missense_Mutation SNP C T T TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr13:32913284C>T uc001uub.1 + 10 5019 c.4792C>T c.(4792-4794)Ctc>Ttc p.L1598F NM_000059 NP_000050 P51587 BRCA2_HUMAN Homo sapiens breast cancer 2, early onset (BRCA2), mRNA. 1598 cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|gamma-tubulin binding|protease binding|single-stranded DNA binding NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 183 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) GCAGAATTCTCTCAATAATGA 0.368000 """D, Mis, N, F, S""" """breast, ovarian, pancreatic""" """breast, ovarian, pancreatic, leukemia (FANCB, FANCD1)""" Homologous recombination Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia TCGA Ovarian(8;0.087) 79 33 0 0 0.000491102 0 0 SLIT3 6586 broad.mit.edu 37 5 168123404 168123404 + Missense_Mutation SNP C T T TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr5:168123404C>T uc010jjg.3 - 27 3416 c.2996G>A c.(2995-2997)cGg>cAg p.R999Q SLIT3_uc003mab.3_Missense_Mutation_p.R992Q NM_003062 NP_003053 O75094 SLIT3_HUMAN Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA. 992 EGF-like 3. Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus extracellular space|mitochondrion Roundabout binding|calcium ion binding p.R992Q(1) endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GATCTCACACCGCTGCCCCTC 0.587000 43 10 0 0 0.000673444 0 0 HCN1 348980 broad.mit.edu 37 5 45262228 45262228 + Missense_Mutation SNP G A A TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr5:45262228G>A uc003jok.3 - 7 2493 c.2468C>T c.(2467-2469)cCc>cTc p.P823L NM_021072 NP_066550 O60741 HCN1_HUMAN Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA. 823 integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5) 156 GCCCGTTCCGGGGACCGCCGT 0.672000 25 4 0 0 0.000602214 0 0 SMYD5 10322 broad.mit.edu 37 2 73449886 73449886 + Nonsense_Mutation SNP C T T TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr2:73449886C>T uc002siw.2 + 6 675 c.646C>T c.(646-648)Caa>Taa p.Q216* SMYD5_uc010yre.1_Nonsense_Mutation_p.Q100* NM_006062 NP_006053 Q6GMV2 SMYD5_HUMAN Homo sapiens SMYD family member 5 (SMYD5), mRNA. 216 metal ion binding NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1) 13 AATCCAGGGCCAACTGGAACT 0.577000 11 15 0 0 0.000566183 0 0 KALRN 8997 broad.mit.edu 37 3 124438270 124438270 + Missense_Mutation SNP C T T TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr3:124438270C>T uc003ehg.3 + 59 9041 c.8914C>T c.(8914-8916)Ccc>Tcc p.P2972S KALRN_uc003ehk.3_Missense_Mutation_p.P1275S NM_001024660 NP_001019831 O60229 KALRN_HUMAN Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA. 2971 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 83 GCGGCCTATTCCCAATGTCAA 0.532000 28 21 0 0 0.00047179 0 0 ACTRT1 139741 broad.mit.edu 37 X 127185816 127185816 + Missense_Mutation SNP C T T TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chrX:127185816C>T uc004eum.3 - 0 567 c.370G>A c.(370-372)Gaa>Aaa p.E124K NM_138289 NP_612146 Q8TDG2 ACTT1_HUMAN Homo sapiens actin-related protein T1 (ACTRT1), mRNA. 124 cytoplasm|cytoskeleton breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3) 34 AACATCATTTCTGCTAGCTTT 0.507000 47 47 0 0 0.000781405 0 0 XKR3 150165 broad.mit.edu 37 22 17288961 17288961 + Missense_Mutation SNP C T T TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr22:17288961C>T uc002zlv.3 - 1 101 c.3G>A c.(1-3)atG>atA p.M1I XKR3_uc011agf.2_Missense_Mutation_p.M1I NM_175878 NP_787074 Q5GH77 XKR3_HUMAN Homo sapiens XK, Kell blood group complex subunit-related family, member 3 (XKR3), mRNA. 1 integral to membrane|plasma membrane central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) ACACTGTCTCCATTCTCAGGG 0.388000 120 37 0 0 0.00195071 0 0 TLR7 51284 broad.mit.edu 37 X 12905615 12905615 + Missense_Mutation SNP G A A TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chrX:12905615G>A uc004cvc.3 + 2 2127 c.1988G>A c.(1987-1989)aGt>aAt p.S663N NM_016562 NP_057646 Q9NYK1 TLR7_HUMAN Homo sapiens toll-like receptor 7 (TLR7), mRNA. 663 I-kappaB phosphorylation|cellular response to mechanical stimulus|defense response to virus|inflammatory response|innate immune response|positive regulation of NF-kappaB import into nucleus|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane double-stranded RNA binding|siRNA binding|single-stranded RNA binding|transmembrane receptor activity NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 44 Imiquimod(DB00724) AATTCCCTAAGTTTCTTGCCT 0.353000 32 75 0 0 0.000781405 0 0 MMP27 64066 broad.mit.edu 37 11 102567432 102567432 + Missense_Mutation SNP C T T TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr11:102567432C>T uc001phd.1 - 4 777 c.754G>A c.(754-756)Gat>Aat p.D252N NM_022122 NP_071405 Q9H306 MMP27_HUMAN Homo sapiens matrix metallopeptidase 27 (MMP27), mRNA. 252 collagen catabolic process|proteolysis proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21) all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176) BRCA - Breast invasive adenocarcinoma(274;0.0151) CCATTGATATCATCCTGAGAA 0.388000 27 9 0 0 0.000442599 0 0 KLHL17 339451 broad.mit.edu 37 1 898791 898791 + Missense_Mutation SNP C T T TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr1:898791C>T uc001aca.2 + 7 1369 c.1262C>T c.(1261-1263)tCc>tTc p.S421F KLHL17_uc001acc.2_Non-coding_Transcript|KLHL17_uc010nyb.1_3'UTR NM_198317 NP_938073 Q6TDP4 KLH17_HUMAN Homo sapiens kelch-like 17 (Drosophila) (KLHL17), mRNA. 421 Interaction with F-actin (By similarity). actin cytoskeleton organization actin cytoskeleton|cell junction|postsynaptic density|postsynaptic membrane protein complex scaffold central_nervous_system(1)|kidney(2)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.52e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.59e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) CCGGAGGTGTCCATGGGCACA 0.622000 16 27 0 0 0.000878237 0 0 PTPRB 5787 broad.mit.edu 37 12 70981045 70981045 + Missense_Mutation SNP G A A rs3960114 TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr12:70981045G>A uc001swb.4 - 6 1429 c.1399C>T c.(1399-1401)Ccc>Tcc p.P467S PTPRB_uc010sto.2_Missense_Mutation_p.P467S|PTPRB_uc010stp.2_Missense_Mutation_p.P377S|PTPRB_uc001swc.4_Missense_Mutation_p.P685S|PTPRB_uc001swa.4_Missense_Mutation_p.P685S|PTPRB_uc001swd.4_Missense_Mutation_p.P684S|PTPRB_uc009zrr.2_Missense_Mutation_p.P564S NM_002837 NP_002828 P23467 PTPRB_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA. 467 Fibronectin type-III 6. angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity p.P467S(3)|p.P685S(1) breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3) 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) ACAGCCAGGGGGACTGAGGAA 0.458000 28 20 0 0 0.000295444 0 0 TAF7L 54457 broad.mit.edu 37 X 100532669 100532669 + Missense_Mutation SNP C T T TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chrX:100532669C>T uc004ehb.3 - 8 900 c.874G>A c.(874-876)Gaa>Aaa p.E292K TAF7L_uc004eha.3_Missense_Mutation_p.E206K|TAF7L_uc004ehc.2_Missense_Mutation_p.E206K NM_024885 NP_001161946 Q5H9L4 TAF7L_HUMAN Homo sapiens TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa (TAF7L), transcript variant 1, mRNA. 292 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter cytoplasm|transcription factor TFIID complex binding NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 29 CCTTGACTTTCTATTTCCTTG 0.463000 30 38 0 0 0.00148497 0 0 FYB 2533 broad.mit.edu 37 5 39202529 39202529 + Silent SNP C T T TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr5:39202529C>T uc003jls.3 - 0 601 c.534G>A c.(532-534)ggG>ggA p.G178G FYB_uc003jlt.3_Silent_p.G178G|FYB_uc003jlu.3_Silent_p.G178G|FYB_uc011cpl.2_Silent_p.G188G NM_199335 NP_955367 O15117 FYB_HUMAN Homo sapiens FYN binding protein (FYB), transcript variant 2, mRNA. 178 NLS-bearing substrate import into nucleus|T cell receptor signaling pathway|cell junction assembly|immune response|intracellular protein kinase cascade|protein phosphorylation cytosol|nucleus protein binding endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1) 45 all_lung(31;0.000343) Epithelial(62;0.235) ACATAAATTTCCCTTTAACCC 0.502000 80 27 0 0 0.00127121 0 0 B3GNT4 79369 broad.mit.edu 37 12 122691861 122691861 + Missense_Mutation SNP G A A TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr12:122691861G>A uc001ubx.3 + 2 1281 c.1063G>A c.(1063-1065)Gag>Aag p.E355K B3GNT4_uc001uby.3_Missense_Mutation_p.E330K NM_030765 NP_110392 Q9C0J1 B3GN4_HUMAN Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4 (B3GNT4), mRNA. 355 protein glycosylation Golgi membrane|integral to membrane galactosyltransferase activity NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 13 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000297)|Epithelial(86;0.000497)|BRCA - Breast invasive adenocarcinoma(302;0.222) CAGCCCCCTCGAGATGTGGAC 0.627000 39 15 0 0 0.000566183 0 0 FABP6 2172 broad.mit.edu 37 5 159661892 159661892 + Silent SNP G A A TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr5:159661892G>A uc003lya.1 + 2 437 c.309G>A c.(307-309)gaG>gaA p.E103E FABP6_uc003lxx.1_Silent_p.E152E|FABP6_uc003lxz.1_Silent_p.E152E|HI423497_uc021ygz.1_5'Flank NM_001445 NP_001436 P51161 FABP6_HUMAN Homo sapiens fatty acid binding protein 6, ileal (FABP6), transcript variant 2, mRNA. 103 bile acid and bile salt transport|bile acid metabolic process|negative regulation of cell proliferation cytosol transporter activity breast(1)|kidney(1)|large_intestine(1)|lung(2) 5 Renal(175;0.00196) Medulloblastoma(196;0.0354)|all_neural(177;0.116) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) AGACCTCAGAGATCGTGGGTG 0.527000 36 12 0 0 0.00185496 0 0 TTN 7273 broad.mit.edu 37 2 179588785 179588785 + Silent SNP T C C TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr2:179588785T>C uc021vsy.1 - 69 17694 c.17469A>G c.(17467-17469)gtA>gtG p.V5823V TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.V2484V NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 6750 Ig-like 39. 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) ATGATCCAGCTACTTTGCATT 0.443000 27 29 0 0 0.00106085 0 0 CERKL 375298 broad.mit.edu 37 2 182413290 182413290 + Missense_Mutation SNP G A A TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr2:182413290G>A uc002unx.3 - 8 1294 c.1193C>T c.(1192-1194)tCt>tTt p.S398F CERKL_uc010frk.3_Non-coding_Transcript|CERKL_uc002uny.3_Missense_Mutation_p.S372F|CERKL_uc010zfm.2_Missense_Mutation_p.S354F|CERKL_uc002unz.3_Missense_Mutation_p.S120F|CERKL_uc002uoa.3_Missense_Mutation_p.S303F|CERKL_uc002uob.3_Missense_Mutation_p.S120F|CERKL_uc002uoc.3_Missense_Mutation_p.S259F|CERKL_uc021vth.1_Missense_Mutation_p.S167F|CERKL_uc021vti.1_Missense_Mutation_p.S120F|CERKL_uc021vtj.1_Missense_Mutation_p.S75F|CERKL_uc021vtk.1_Missense_Mutation_p.S120F|CERKL_uc021vtl.1_Missense_Mutation_p.S75F|CERKL_uc021vtm.1_Missense_Mutation_p.S167F|CERKL_uc002uod.2_Missense_Mutation_p.S167F|CERKL_uc002uoe.3_Missense_Mutation_p.S372F|CERKL_uc002unw.3_5'Flank NM_001030311 NP_001025482 Q49MI3 CERKL_HUMAN Homo sapiens ceramide kinase-like (CERKL), transcript variant 2, mRNA. 398 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis Golgi apparatus|endoplasmic reticulum|nucleolus diacylglycerol kinase activity NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3) 32 OV - Ovarian serous cystadenocarcinoma(117;0.088) CACATCATCAGAGCTGTTAAA 0.313000 20 14 0 0 0.000422831 0 0 MYH8 4626 broad.mit.edu 37 17 10317561 10317561 + Missense_Mutation SNP C T T TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr17:10317561C>T uc002gmm.2 - 10 1051 c.956G>A c.(955-957)gGg>gAg p.G319E AK097500_uc002gml.1_Intron NM_002472 NP_002463 P13535 MYH8_HUMAN Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA. 319 Myosin head-like. muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 TGTGATCTCCCCCTGACTGAC 0.393000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 240 100 0 0 0.000781405 0 0 FSTL5 56884 broad.mit.edu 37 4 162841571 162841571 + Missense_Mutation SNP C T T TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr4:162841571C>T uc003iqh.3 - 3 830 c.394G>A c.(394-396)Gac>Aac p.D132N FSTL5_uc003iqi.3_Missense_Mutation_p.D131N|FSTL5_uc010iqv.3_Missense_Mutation_p.D131N NM_020116 NP_064501 Q8N475 FSTL5_HUMAN Homo sapiens follistatin-like 5 (FSTL5), transcript variant 1, mRNA. 132 Kazal-like. extracellular region calcium ion binding central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 91 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.179) AAGAAGCAGTCTTCATTGTGA 0.383000 17 19 0 0 0.000958276 0 0 GPC5 2262 broad.mit.edu 37 13 92345703 92345703 + Missense_Mutation SNP G A A TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr13:92345703G>A uc010tif.2 + 2 954 c.588G>A c.(586-588)atG>atA p.M196I NM_004466 NP_004457 P78333 GPC5_HUMAN Homo sapiens glypican 5 (GPC5), mRNA. 196 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding p.R195L(1) NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) Lung NSC(4;0.00454) GCATCCGGATGGCTCGCCGGG 0.498000 72 13 0 0 0.00136819 0 0 PEBP4 157310 broad.mit.edu 37 8 22582371 22582371 + Missense_Mutation SNP C T T TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr8:22582371C>T uc003xcn.1 - 5 594 c.502G>A c.(502-504)Gaa>Aaa p.E168K NM_144962 NP_659399 Q96S96 PEBP4_HUMAN Homo sapiens phosphatidylethanolamine-binding protein 4 (PEBP4), mRNA. 168 lysosome breast(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|stomach(2) 10 Prostate(55;0.0453)|Breast(100;0.103) Colorectal(74;0.0434)|COAD - Colon adenocarcinoma(73;0.124) GTTTTGTTTTCCTTGGGAAGG 0.537000 57 13 0 0 0.000219431 0 0 KCNC3 3748 broad.mit.edu 37 19 50826917 50826917 + Silent SNP G A A TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr19:50826917G>A uc002pru.1 - 1 1588 c.1293C>T c.(1291-1293)ttC>ttT p.F431F KCNC3_uc002prt.1_Silent_p.F67F NM_004977 NP_004968 Q14003 KCNC3_HUMAN Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 3 (KCNC3), mRNA. 431 cell death voltage-gated potassium channel complex voltage-gated potassium channel activity endometrium(2)|large_intestine(4)|lung(5)|pancreas(1)|skin(1) 13 all_neural(266;0.057)|Ovarian(192;0.208) OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181) GCAGCCCCACGAAGTGCCGGG 0.657000 41 21 0 0 0.00152264 0 0 TREML5P 221438 broad.mit.edu 37 6 41217211 41217211 + RNA SNP T C C TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr6:41217211T>C uc003oqe.1 + 0 c.97T>C Homo sapiens triggering receptor expressed on myeloid cells-like 2 pseudogene 1 (TREML2P1), non-coding RNA. TGAGCCTGGTTTCACCCAAGT 0.562000 45 72 0 0 0.000781405 0 0 DNAH17 8632 broad.mit.edu 37 17 76570995 76570995 + Missense_Mutation SNP C T T TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr17:76570995C>T uc010dhp.2 - 1 270 c.145G>A c.(145-147)Gtc>Atc p.V49I NM_173628 NP_775899 Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA. NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) AGCACCTGGACGTCGGGCTTT 0.567000 37 11 0 0 0.000978159 0 0 B4GALNT4 338707 broad.mit.edu 37 11 376073 376074 + Splice_Site DNP GG AA AA TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr11:376073_376074GG>AA uc001lpb.3 + 12 1105 c.1096_splice c.e12-1 p.V366_splice NM_178537 NP_848632 Q76KP1 B4GN4_HUMAN Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 4 (B4GALNT4), mRNA. 366 Golgi cisterna membrane|integral to membrane N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1) 24 all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703) CCACCCCCCAGGTGTACCTGTC 0.668000 20 6 0 0 6.4e-05 0 0 OR4F6 390648 broad.mit.edu 37 15 102346732 102346732 + Silent SNP C T T TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr15:102346732C>T uc010utr.2 + 0 810 c.810C>T c.(808-810)ttC>ttT p.F270F NM_001005326 NP_001005326 Q8NGB9 OR4F6_HUMAN Homo sapiens olfactory receptor, family 4, subfamily F, member 6 (OR4F6), mRNA. 270 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.F270C(1) breast(1)|large_intestine(1)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187) TTGATAAATTCCTTGCCATCT 0.383000 72 35 0 0 0.000409698 0 0 GALNS 2588 broad.mit.edu 37 16 88904144 88904144 + Missense_Mutation SNP G A A TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr16:88904144G>A uc010cid.3 - 5 711 c.470C>T c.(469-471)cCc>cTc p.P157L GALNS_uc002fly.4_Missense_Mutation_p.P151L|GALNS_uc002flz.4_Intron P34059 GALNS_HUMAN Homo sapiens galactosamine (N-acetyl)-6-sulfate sulfatase (GALNS), mRNA. 151 lysosome N-acetylgalactosamine-4-sulfatase activity|N-acetylgalactosamine-6-sulfatase activity|metal ion binding breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(8) 22 BRCA - Breast invasive adenocarcinoma(80;0.0496) Hyaluronidase(DB00070) GTGCTTCAGGGGGTGGAACTG 0.572000 53 29 0 0 0.000491102 0 0 TRPC4 7223 broad.mit.edu 37 13 38211377 38211377 + Missense_Mutation SNP G A A TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr13:38211377G>A uc010abx.3 - 10 2847 c.2612C>T c.(2611-2613)tCt>tTt p.S871F TRPC4_uc010abv.3_Missense_Mutation_p.S446F|TRPC4_uc001uwt.3_Intron|TRPC4_uc001uws.3_Missense_Mutation_p.S866F|TRPC4_uc010tey.2_Intron|TRPC4_uc010abw.3_Missense_Mutation_p.S693F|TRPC4_uc010aby.3_Intron NM_003306 NP_003297 Q9UBN4 TRPC4_HUMAN Homo sapiens transient receptor potential cation channel, subfamily C, member 4 (TRPC4), transcript variant epsilon, mRNA. 866 Binds to ITPR1, ITPR2 and ITPR3. axon guidance|calcium ion import basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton beta-catenin binding|cadherin binding|store-operated calcium channel activity NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2) 83 all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126) TTCTGAAACAGAGAAGATTTG 0.408000 53 20 0 0 0.00188189 0 0 RASSF9 9182 broad.mit.edu 37 12 86198791 86198791 + Missense_Mutation SNP G A A TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr12:86198791G>A uc001taf.1 - 1 1336 c.997C>T c.(997-999)Cac>Tac p.H333Y NM_005447 NP_005438 O75901 RASF9_HUMAN Homo sapiens Ras association (RalGDS/AF-6) domain family (N-terminal) member 9 (RASSF9), mRNA. 333 endosome transport|protein targeting|signal transduction cytosol|endosome|trans-Golgi network transport vesicle membrane protein binding|transporter activity endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 AAATGAGAGTGAATTTTCAAA 0.393000 225 93 0 0 0.000781405 0 0 TTN 7273 broad.mit.edu 37 2 179647015 179647015 + Missense_Mutation SNP C T T TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr2:179647015C>T uc021vsy.1 - 19 3529 c.3304G>A c.(3304-3306)Gga>Aga p.G1102R TTN_uc021vsz.1_Missense_Mutation_p.G1056R|TTN_uc021vta.1_Missense_Mutation_p.G1056R|TTN_uc021vtb.1_Missense_Mutation_p.G1056R|TTN_uc002unb.2_Missense_Mutation_p.G1102R NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 1102 Ig-like 4. 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) ACTTGGCATCCAAACACCACG 0.498000 50 38 0 0 0.000953801 0 0 PSD2 84249 broad.mit.edu 37 5 139193814 139193814 + Missense_Mutation SNP G A A TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr5:139193814G>A uc003leu.1 + 3 1086 c.881G>A c.(880-882)gGg>gAg p.G294E NM_032289 NP_115665 Q9BQI7 PSD2_HUMAN Homo sapiens pleckstrin and Sec7 domain containing 2 (PSD2), mRNA. 294 SEC7. regulation of ARF protein signal transduction cytoplasm|integral to membrane ARF guanyl-nucleotide exchange factor activity breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2) 38 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGCTCGGAGGGGTTGGAGCCT 0.632000 56 25 0 0 0.00047179 0 0 CYP4F24P 388514 broad.mit.edu 37 19 15881905 15881905 + Missense_Mutation SNP C T T TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr19:15881905C>T uc010xor.1 - 3 492 c.472G>A c.(472-474)Gtc>Atc p.V158I CYP4F24P_uc002nbo.3_Non-coding_Transcript Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 24, pseudogene (CYP4F24P), non-coding RNA. TCCTGGATGACGGCATCTGTG 0.542000 43 25 0 0 0.000720815 0 0 MUC16 94025 broad.mit.edu 37 19 9057123 9057123 + Missense_Mutation SNP C T T TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr19:9057123C>T uc002mkp.3 - 2 30527 c.30323G>A c.(30322-30324)gGa>gAa p.G10108E NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 10110 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 ACTGGTGGTTCCCACATTGGT 0.478000 59 38 0 0 0.000814825 0 0 RANBP2 5903 broad.mit.edu 37 2 109371692 109371692 + Missense_Mutation SNP T C C TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr2:109371692T>C uc002tem.4 + 16 2569 c.2443T>C c.(2443-2445)Tgc>Cgc p.C815R NM_006267 NP_006258 P49792 RBP2_HUMAN Homo sapiens RAN binding protein 2 (RANBP2), mRNA. 815 carbohydrate metabolic process|glucose transport|mRNA transport|mitotic prometaphase|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore Ran GTPase binding|peptidyl-prolyl cis-trans isomerase activity|zinc ion binding RANBP2/ALK(34) NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 129 GAAAATGATTTGCCAACAAGT 0.348000 262 8 0 0 0.000157383 0 0 TRIM10 10107 broad.mit.edu 37 6 30126183 30126183 + Missense_Mutation SNP A G G TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr6:30126183A>G uc003npo.3 - 2 825 c.749T>C c.(748-750)cTc>cCc p.L250P TRIM10_uc003npn.2_Missense_Mutation_p.L250P NM_006778 NP_006769 Q9UDY6 TRI10_HUMAN Homo sapiens tripartite motif containing 10 (TRIM10), transcript variant 1, mRNA. 250 cytoplasm zinc ion binding ovary(1) 1 CACCGTCAGGAGCTCCCTTGC 0.532000 75 61 0 0 0.000781405 0 0 CDH7 1005 broad.mit.edu 37 18 63489479 63489479 + Missense_Mutation SNP C T T TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr18:63489479C>T uc002lkb.3 + 4 1214 c.788C>T c.(787-789)cCt>cTt p.P263L CDH7_uc002ljz.3_Missense_Mutation_p.P263L|CDH7_uc002lka.3_Missense_Mutation_p.P263L NM_004361 NP_387450 Q9ULB5 CADH7_HUMAN Homo sapiens cadherin 7, type 2 (CDH7), transcript variant b, mRNA. 263 Cadherin 3. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 80 Esophageal squamous(42;0.129) CCTCGCTTTCCTCGAAGTAAG 0.363000 21 20 0 0 0.00188189 0 0 OGDHL 55753 broad.mit.edu 37 10 50966519 50966519 + Missense_Mutation SNP G C C TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr10:50966519G>C uc009xog.3 - 0 235 c.201C>G c.(199-201)ttC>ttG p.F67L OGDHL_uc001jie.3_Missense_Mutation_p.F40L|OGDHL_uc010qgt.2_Missense_Mutation_p.F40L|OGDHL_uc010qgu.2_Intron|OGDHL_uc009xoh.2_Intron NM_001143997 NP_001137469 Q9ULD0 OGDHL_HUMAN Homo sapiens oxoglutarate dehydrogenase-like (OGDHL), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA. 40 glycolysis mitochondrial matrix oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1) 61 TGCTGCTTGGGAAGGTGGCCG 0.637000 25 39 0 0 0.00128727 0 0 OR5R1 219479 broad.mit.edu 37 11 56185523 56185523 + Silent SNP G A A TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr11:56185523G>A uc010rji.2 - 0 186 c.186C>T c.(184-186)ttC>ttT p.F62F OR8U8_uc001nit.2_Intron NM_001004744 NP_001004744 Q8NH85 OR5R1_HUMAN Homo sapiens olfactory receptor, family 5, subfamily R, member 1 (OR5R1), mRNA. 62 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1) 37 Esophageal squamous(21;0.00448) GGTGGCTGAGGAAATAGTACA 0.428000 38 10 0 0 0.000978159 0 0 ZFP64 55734 broad.mit.edu 37 20 50705006 50705006 + Missense_Mutation SNP G A A TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr20:50705006G>A uc002xwk.3 - 7 1502 c.1153C>T c.(1153-1155)Ccg>Tcg p.P385S ZFP64_uc002xwj.3_Missense_Mutation_p.P166S NM_199427 NP_955459 Q9NPA5 ZF64A_HUMAN Homo sapiens zinc finger protein 64 homolog (mouse) (ZFP64), transcript variant 4, mRNA. 342 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 33 CATTTGTACGGCCGCTCATCA 0.597000 105 43 0 0 0.000509022 0 0 TYW1B 441250 broad.mit.edu 37 7 72178689 72178689 + Silent SNP G A A TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr7:72178689G>A uc011kej.2 - 11 1416 c.1257C>T c.(1255-1257)ctC>ctT p.L419L TYW1B_uc011keh.1_Silent_p.L257L|TYW1B_uc011kei.2_Silent_p.L46L NM_001145440 NP_001138912 Q6NUM6 TYW1B_HUMAN Homo sapiens tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae) (TYW1B), transcript variant 1, mRNA. 420 tRNA processing 4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity GTTCTCCCACGAGGGACAATG 0.473000 36 17 0 0 0.000586117 0 0 PCDHB14 56122 broad.mit.edu 37 5 140603964 140603964 + Missense_Mutation SNP C T T TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr5:140603964C>T uc003ljb.3 + 0 887 c.887C>T c.(886-888)cCa>cTa p.P296L NM_018934 NP_061757 Q9Y5E9 PCDBE_HUMAN Homo sapiens protocadherin beta 14 (PCDHB14), mRNA. 296 Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1) 49 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GAAATTAATCCAATATCTGGG 0.368000 34 15 0 0 0.000219431 0 0 LONP2 83752 broad.mit.edu 37 16 48311272 48311272 + Missense_Mutation SNP C G G TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr16:48311272C>G uc002efi.1 + 7 1354 c.1265C>G c.(1264-1266)cCt>cGt p.P422R MIR548AE2_uc021thr.1_Intron|LONP2_uc010vgm.1_Non-coding_Transcript|LONP2_uc002efj.1_Missense_Mutation_p.P378R NM_031490 NP_113678 Q86WA8 LONP2_HUMAN Homo sapiens lon peptidase 2, peroxisomal (LONP2), mRNA. 422 misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing nucleoid|peroxisomal matrix ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 GGCAGCATGCCTGGTCGCATC 0.483000 78 24 0 0 0.000720815 0 0 COPA 1314 broad.mit.edu 37 1 160260465 160260465 + Silent SNP G A A TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr1:160260465G>A uc001fvv.4 - 31 3853 c.3459C>T c.(3457-3459)atC>atT p.I1153I COPA_uc009wti.3_Silent_p.I1144I NM_001098398 NP_001091868 P53621 COPA_HUMAN Homo sapiens coatomer protein complex, subunit alpha (COPA), transcript variant 1, mRNA. 1144 COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction hormone activity|structural molecule activity central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2) 46 all_cancers(52;8.15e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) AGGCAGACAGGATTTTTCGGG 0.488000 176 61 0 0 0.000781405 0 0 DNAH7 56171 broad.mit.edu 37 2 196822000 196822000 + Missense_Mutation SNP C T T TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr2:196822000C>T uc002utj.4 - 18 3164 c.3063G>A c.(3061-3063)atG>atA p.M1021I NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA. 1021 Stem (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 TGACACTTCTCATTATATCTC 0.378000 50 53 0 0 0.000781405 0 0 IGF1 3479 broad.mit.edu 37 12 102813412 102813412 + Missense_Mutation SNP C T T TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr12:102813412C>T uc001tjp.4 - 2 496 c.277G>A c.(277-279)Gat>Aat p.D93N IGF1_uc001tjn.2_Missense_Mutation_p.D77N|IGF1_uc001tjm.2_Missense_Mutation_p.D93N|IGF1_uc001tjo.2_Missense_Mutation_p.D93N NM_001111285 NP_001104755 P05019 IGF1_HUMAN Homo sapiens insulin-like growth factor 1 (somatomedin C) (IGF1), transcript variant 3, mRNA. 93 A. DNA replication|Ras protein signal transduction|anti-apoptosis|bone mineralization involved in bone maturation|cellular component movement|glycolate metabolic process|muscle hypertrophy|myoblast differentiation|myoblast proliferation|myotube cell development|negative regulation of smooth muscle cell apoptosis|phosphatidylinositol-mediated signaling|platelet activation|platelet degranulation|positive regulation of DNA replication|positive regulation of Ras protein signal transduction|positive regulation of activated T cell proliferation|positive regulation of epithelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis|positive regulation of osteoblast differentiation|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of multicellular organism growth|satellite cell maintenance involved in skeletal muscle regeneration platelet alpha granule lumen growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|integrin binding central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1) 11 CAGCACTCATCCACGATGCCT 0.587000 46 10 0 0 0.000978159 0 0 C4orf40 401137 broad.mit.edu 37 4 71024103 71024103 + Missense_Mutation SNP G A A TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr4:71024103G>A uc003hfa.4 + 3 207 c.134G>A c.(133-135)cGg>cAg p.R45Q C4orf40_uc003hfb.4_Missense_Mutation_p.R45Q NM_214711 NP_999876 Q6MZM9 CD040_HUMAN Homo sapiens chromosome 4 open reading frame 40 (C4orf40), mRNA. 45 extracellular region p.R45W(1) breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 TATGGCATACGGAATTTACCA 0.433000 52 46 0 0 0.000781405 0 0 AGFG1 3267 broad.mit.edu 37 2 228401685 228401685 + Nonsense_Mutation SNP C T T TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr2:228401685C>T uc002vpc.2 + 9 1604 c.1354C>T c.(1354-1356)Cag>Tag p.Q452* AGFG1_uc002vpd.2_Nonsense_Mutation_p.Q476*|AGFG1_uc002vpe.2_Nonsense_Mutation_p.Q452*|AGFG1_uc002vpf.2_Nonsense_Mutation_p.Q412* NM_004504 NP_004495 P52594 AGFG1_HUMAN Homo sapiens ArfGAP with FG repeats 1 (AGFG1), transcript variant 2, mRNA. 452 cell differentiation|mRNA export from nucleus|multicellular organismal development|regulation of ARF GTPase activity|spermatogenesis Golgi apparatus|cytoplasmic membrane-bounded vesicle|nuclear pore ARF GTPase activator activity|DNA binding|RNA binding|protein binding|zinc ion binding central_nervous_system(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(2)|ovary(1)|prostate(1)|skin(4)|stomach(1) 18 AAACCCATTTCAGACCAATGC 0.393000 81 16 0 0 0.00152264 0 0 MUC16 94025 broad.mit.edu 37 19 9077090 9077090 + Silent SNP G A A TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr19:9077090G>A uc002mkp.3 - 2 10560 c.10356C>T c.(10354-10356)atC>atT p.I3452I NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 3453 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 CTGTGGAGGTGATGTATAATG 0.483000 52 24 0 0 0.000375601 0 0 COL4A4 1286 broad.mit.edu 37 2 227919421 227919421 + Missense_Mutation SNP G A A TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr2:227919421G>A uc021vxr.1 - 29 2850 c.2749C>T c.(2749-2751)Ccc>Tcc p.P917S COL4A4_uc021vxs.1_Missense_Mutation_p.P917S NM_000092 NP_000083 P53420 CO4A4_HUMAN Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA. 917 Triple-helical region. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 98 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) CTTTCTCCGGGAAAACCTGGG 0.512000 24 23 0 0 0.00047179 0 0 FLNB 2317 broad.mit.edu 37 3 58155360 58155360 + Silent SNP C T T TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr3:58155360C>T uc003djj.2 + 44 7626 c.7461C>T c.(7459-7461)tcC>tcT p.S2487S FLNB_uc010hne.2_Silent_p.S2518S|FLNB_uc003djk.2_Silent_p.S2476S|FLNB_uc010hnf.2_Silent_p.S2463S|FLNB_uc003djl.2_Silent_p.S2307S|FLNB_uc003djm.2_Silent_p.S2294S|BC041347_uc003djn.3_Intron NM_001457 NP_001448 O75369 FLNB_HUMAN Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA. 2487 Hinge 2 (By similarity).|Interaction with INPPL1.|Self-association site, tail (By similarity). S -> C (in Ref. 11; AAA35505). actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction cell cortex|integral to membrane|nucleus|sarcomere actin binding NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5) 120 BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898) AGACCTCATCCATCCTGGTGG 0.587000 73 57 0 0 0.000781405 0 0 ATP10D 57205 broad.mit.edu 37 4 47514627 47514627 + Missense_Mutation SNP G A A TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr4:47514627G>A uc003gxk.1 + 1 234 c.70G>A c.(70-72)Gat>Aat p.D24N ATP10D_uc003gxj.3_Missense_Mutation_p.D24N NM_020453 NP_065186 Q9P241 AT10D_HUMAN Homo sapiens ATPase, class V, type 10D (ATP10D), mRNA. 24 ATP biosynthetic process|cation transport integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1) 66 CAGGGATGATGATTCAGGGCC 0.527000 68 11 0 0 0.000978159 0 0 ZNF711 7552 broad.mit.edu 37 X 84526007 84526007 + Missense_Mutation SNP G A A TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chrX:84526007G>A uc004eeq.3 + 9 2483 c.1597G>A c.(1597-1599)Gaa>Aaa p.E533K ZNF711_uc004eep.3_Missense_Mutation_p.E487K|ZNF711_uc004eeo.3_Missense_Mutation_p.E487K|ZNF711_uc011mqy.1_Missense_Mutation_p.E86K NM_021998 NP_068838 Q9Y462 ZN711_HUMAN Homo sapiens zinc finger protein 711 (ZNF711), mRNA. 487 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding|sequence-specific DNA binding|zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4) 28 TGAAACTGCAGAACAAGGACT 0.418000 3 6 0 0 0.00116845 0 0 COL3A1 1281 broad.mit.edu 37 2 189864605 189864605 + Missense_Mutation SNP G A A TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr2:189864605G>A uc002uqj.1 + 31 2384 c.2267G>A c.(2266-2268)gGg>gAg p.G756E NM_000090 NP_000081 P02461 CO3A1_HUMAN Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA. 756 Triple-helical region. G -> E (in EDS4). axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding p.G756E(2) NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 126 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) GGTGTCCCAGGGAAAGATGGC 0.448000 22 4 0 0 0.000602214 0 0 SERPINB3 6317 broad.mit.edu 37 18 61309074 61309074 + Missense_Mutation SNP C T T TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr18:61309074C>T uc002ljf.3 - 3 357 c.271G>A c.(271-273)Gaa>Aaa p.E91K SERPINB3_uc002lje.3_Missense_Mutation_p.E91K|SERPINB3_uc002ljg.3_Intron NM_002974 NP_002965 P29508 SPB3_HUMAN Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 4 (SERPINB4), mRNA. 91 regulation of proteolysis cytoplasm|extracellular region protein binding|serine-type endopeptidase inhibitor activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2) 36 TTGTTGAATTCAGTCAGAAGC 0.383000 98 19 0 0 0.00188189 0 0 AK302694 0 broad.mit.edu 37 10 30998233 30998233 + Missense_Mutation SNP G A A TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr10:30998233G>A uc010qdx.1 + 7 1321 c.779G>A c.(778-780)gGa>gAa p.G260E SubName: Full=cDNA FLJ59642, highly similar to Supervillin; AAAGATCCCGGAAGTTTTAAC 0.468000 13 18 0 0 0.000958276 0 0 AXIN1 8312 broad.mit.edu 37 16 354394 354394 + Silent SNP G A A TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr16:354394G>A uc002cgp.2 - 4 1553 c.1164C>T c.(1162-1164)ttC>ttT p.F388F LUC7L_uc021szo.1_Intron|AXIN1_uc002cgq.2_Silent_p.F388F NM_003502 NP_003493 O15169 AXIN1_HUMAN Homo sapiens axin 1 (AXIN1), transcript variant 1, mRNA. 388 Interaction with GSK3B (By similarity). Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis|activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density GTPase activator activity|I-SMAD binding|armadillo repeat domain binding|beta-catenin binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding p.E384fs*31(1)|p.?(1) biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2) 221 all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187) GCTCCTCCGCGAACTTCTGAG 0.667000 32 11 0 0 0.00185496 0 0 FAM210A 125228 broad.mit.edu 37 18 13681927 13681927 + Silent SNP G A A TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr18:13681927G>A uc010dlh.3 - 2 582 c.150C>T c.(148-150)ggC>ggT p.G50G FAM210A_uc010dlg.3_Silent_p.G50G|FAM210A_uc010dli.3_Silent_p.G50G|FAM210A_uc002ksj.4_Silent_p.G50G|FAM210A_uc010dlj.3_Intron NM_001098801 NP_689565 Q96ND0 CR019_HUMAN Homo sapiens family with sequence similarity 210, member A (FAM210A), transcript variant 1, mRNA. 50 integral to membrane GTTTTTGAGGGCCTTGTACCA 0.453000 124 23 0 0 0.00188189 0 0 RASGRP1 10125 broad.mit.edu 37 15 38852056 38852056 + Silent SNP C T T TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr15:38852056C>T uc001zke.4 - 1 364 c.186G>A c.(184-186)ctG>ctA p.L62L RASGRP1_uc001zkd.4_Silent_p.L62L NM_005739 NP_005730 O95267 GRP1_HUMAN Homo sapiens RAS guanyl releasing protein 1 (calcium and DAG-regulated) (RASGRP1), transcript variant 1, mRNA. 62 N-terminal Ras-GEF.|Ras exchanger motif region; required for transforming activity (By similarity). Ras protein signal transduction|cell differentiation|platelet activation|regulation of small GTPase mediated signal transduction Golgi membrane|cytosol|endoplasmic reticulum membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 20 all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574) GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248) TGAGATCGTCCAGGCTGGCTC 0.498000 49 12 0 0 0.00185496 0 0 C7 730 broad.mit.edu 37 5 40981538 40981538 + Missense_Mutation SNP G A A TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr5:40981538G>A uc003jmh.3 + 17 2509 c.2395G>A c.(2395-2397)Gaa>Aaa p.E799K NM_000587 NP_000578 P10643 CO7_HUMAN Homo sapiens complement component 7 (C7), mRNA. 799 Complement control factor I module 2. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular region|membrane attack complex Ovarian(839;0.0112) GGAGTGCGAGGAAGAAGGGTT 0.522000 15 6 0 0 0.00116845 0 0 VWC2 375567 broad.mit.edu 37 7 49842315 49842315 + Silent SNP A T T TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr7:49842315A>T uc003tot.1 + 2 1261 c.705A>T c.(703-705)ccA>ccT p.P235P NM_198570 NP_940972 Q2TAL6 VWC2_HUMAN Homo sapiens von Willebrand factor C domain containing 2 (VWC2), mRNA. 235 VWFC 2. negative regulation of BMP signaling pathway|positive regulation of neuron differentiation basement membrane|extracellular space cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|prostate(1) 8 AGGTGTCTCCATGCGAGAGGT 0.507000 115 50 0 0 0.000781405 0 0 ADNP2 22850 broad.mit.edu 37 18 77895150 77895150 + Silent SNP C T T TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr18:77895150C>T uc002lnw.3 + 3 2309 c.1854C>T c.(1852-1854)gcC>gcT p.A618A NM_014913 NP_055728 Q6IQ32 ADNP2_HUMAN Homo sapiens ADNP homeobox 2 (ADNP2), mRNA. 618 cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.A618V(1) breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2) 42 all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2) Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164) ACACGCTGGCCCCCGTGTCTG 0.597000 43 13 0 0 0.00185496 0 0 ZFHX3 463 broad.mit.edu 37 16 72830437 72830437 + Silent SNP T G G TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr16:72830437T>G uc002fck.3 - 8 6817 c.6144A>C c.(6142-6144)ccA>ccC p.P2048P ZFHX3_uc002fcl.3_Silent_p.P1134P NM_006885 NP_008816 Q15911 ZFHX3_HUMAN Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA. 2048 Poly-Pro. muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) GAAGTGGGGGTGGAGGGGGTG 0.642000 69 8 0 0 0.000274275 0 0 IL23R 149233 broad.mit.edu 37 1 67721573 67721573 + Missense_Mutation SNP C T T TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr1:67721573C>T uc001ddo.3 + 9 1287 c.1202C>T c.(1201-1203)cCt>cTt p.P401L IL23R_uc009waz.3_Missense_Mutation_p.P198L|IL23R_uc001ddp.2_Non-coding_Transcript|IL23R_uc010opi.2_Non-coding_Transcript|IL23R_uc010opj.2_5'UTR|IL23R_uc010opk.2_Intron|IL23R_uc010opl.2_Intron|IL23R_uc010opm.2_Non-coding_Transcript|IL23R_uc001ddq.3_Missense_Mutation_p.P147L|IL23R_uc010opn.2_Missense_Mutation_p.P246L|IL23R_uc001ddr.3_Non-coding_Transcript|IL23R_uc010opo.1_Missense_Mutation_p.P260L|IL23R_uc010opp.1_Non-coding_Transcript|IL23R_uc010opq.1_Missense_Mutation_p.P230L|IL23R_uc010opr.1_Non-coding_Transcript|IL23R_uc010oqh.2_Missense_Mutation_p.P42L|IL23R_uc010oqf.2_5'UTR|IL23R_uc010ops.2_Missense_Mutation_p.P198L|IL23R_uc010opt.2_Missense_Mutation_p.P42L|IL23R_uc010opu.2_Missense_Mutation_p.P97L|IL23R_uc010opv.2_Missense_Mutation_p.P159L|IL23R_uc010opw.2_Missense_Mutation_p.P36L|IL23R_uc010opx.2_Missense_Mutation_p.P42L|IL23R_uc010opy.2_Missense_Mutation_p.P168L|IL23R_uc010opz.2_Missense_Mutation_p.P42L|IL23R_uc010oqa.2_Missense_Mutation_p.P42L|IL23R_uc010oqb.2_Missense_Mutation_p.P230L|IL23R_uc010oqc.2_Missense_Mutation_p.P117L|IL23R_uc010oqd.2_Missense_Mutation_p.P36L|IL23R_uc010oqe.2_5'UTR|IL23R_uc010oqg.2_5'UTR|IL23R_uc001dds.3_Missense_Mutation_p.P146L|IL23R_uc001ddt.3_5'UTR NM_144701 NP_653302 Q5VWK5 IL23R_HUMAN Homo sapiens interleukin 23 receptor (IL23R), mRNA. 401 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 GAAGATATTCCTAATATGAAA 0.333000 25 28 0 0 0.00127121 0 0 TXNDC11 51061 broad.mit.edu 37 16 11785738 11785738 + Silent SNP G A A TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr16:11785738G>A uc010buu.1 - 8 1451 c.1389C>T c.(1387-1389)tcC>tcT p.S463S TXNDC11_uc002dbg.1_Silent_p.S436S NM_015914 NP_056998 Q6PKC3 TXD11_HUMAN Homo sapiens thioredoxin domain containing 11 (TXNDC11), mRNA. 463 cell redox homeostasis endoplasmic reticulum membrane|integral to membrane endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 TGTGGGTCCTGGAGAAGGAGT 0.622000 53 16 0 0 0.000566183 0 0 RYR1 6261 broad.mit.edu 37 19 39019618 39019618 + Missense_Mutation SNP G A A TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr19:39019618G>A uc002oit.3 + 75 11192 c.11062G>A c.(11062-11064)Gaa>Aaa p.E3688K RYR1_uc002oiu.3_Missense_Mutation_p.E3683K|RYR1_uc002oiv.1_Missense_Mutation_p.E603K|RYR1_uc010xuf.1_Missense_Mutation_p.E608K NM_000540 NP_000531 P21817 RYR1_HUMAN Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA. 3688 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) ggaggaggaggaagaggtgga 0.607000 16 6 0 0 0.00116845 0 0 LOC100132247 0 broad.mit.edu 37 16 21854780 21854780 + Missense_Mutation SNP G A A TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr16:21854780G>A uc002djr.3 - 5 654 c.472C>T c.(472-474)Cgt>Tgt p.R158C LOC100132247_uc002djs.3_Non-coding_Transcript|LOC100132247_uc002djq.3_Missense_Mutation_p.R139C|LOC100132247_uc010vbn.1_Missense_Mutation_p.R158C NM_001135865 NP_001129337 Homo sapiens nuclear pore complex interacting protein related gene (LOC100132247), mRNA. TTCCTCTTACGGATTTTAGCT 0.388000 145 23 0 0 0.00178596 0 0 GABRB2 2561 broad.mit.edu 37 5 160758087 160758087 + Missense_Mutation SNP C T T TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr5:160758087C>T uc003lys.1 - 8 1098 c.880G>A c.(880-882)Gaa>Aaa p.E294K GABRB2_uc011deh.1_Missense_Mutation_p.E133K|GABRB2_uc003lyr.1_Missense_Mutation_p.E294K|GABRB2_uc003lyt.1_Missense_Mutation_p.E294K|GABRB2_uc021yhg.1_Missense_Mutation_p.E231K NM_021911 NP_068711 P47870 GBRB2_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 2 (GABRB2), transcript variant 1, mRNA. 294 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane GABA-A receptor activity|chloride channel activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 26 Renal(175;0.00259) Medulloblastoma(196;0.021)|all_neural(177;0.0463) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) GGGAGAGTTTCCCGGAGGTGG 0.433000 81 32 0 0 0.000409698 0 0 RBM7 10179 broad.mit.edu 37 11 114272447 114272447 + Missense_Mutation SNP C T T TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr11:114272447C>T uc001pow.3 + 1 134 c.124C>T c.(124-126)Cca>Tca p.P42S C11orf71_uc001pot.1_5'Flank|C11orf71_uc001pou.4_5'Flank|RBM7_uc001pov.3_Missense_Mutation_p.P42S|RBM7_uc001pox.3_5'UTR NM_016090 NP_057174 Q9Y580 RBM7_HUMAN Homo sapiens RNA binding motif protein 7 (RBM7), mRNA. 42 RRM. meiosis RNA binding|nucleotide binding|protein binding NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 17 all_cancers(61;5.06e-12)|all_epithelial(67;5.3e-06)|all_hematologic(158;7.68e-05)|Acute lymphoblastic leukemia(157;0.000966)|Melanoma(852;0.00153)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.0818)|Prostate(24;0.104) BRCA - Breast invasive adenocarcinoma(274;2.56e-06)|Epithelial(105;4.17e-05)|all cancers(92;0.000348) GGTGAAAATTCCAAAAGATAA 0.313000 17 7 0 0 0.000157383 0 0 MYPOP 339344 broad.mit.edu 37 19 46393958 46393958 + Missense_Mutation SNP G A A TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr19:46393958G>A uc002pdt.3 - 2 1210 c.1123C>T c.(1123-1125)Ccg>Tcg p.P375S NM_001012643 NP_001012661 Q86VE0 MYPOP_HUMAN Homo sapiens Myb-related transcription factor, partner of profilin (MYPOP), mRNA. 375 Pro-rich. nucleus DNA binding large_intestine(2)|lung(1)|skin(1) 4 GAGTCGTGCGGAGGGAGCGGG 0.647000 15 10 0 0 0.000442599 0 0 OR5L1 219437 broad.mit.edu 37 11 55579441 55579441 + Missense_Mutation SNP C T T TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr11:55579441C>T uc001nhw.1 + 0 499 c.499C>T c.(499-501)Ccc>Tcc p.P167S NM_001004738 NP_001004738 Q8NGL2 OR5L1_HUMAN Homo sapiens olfactory receptor, family 5, subfamily L, member 1 (OR5L1), mRNA. 167 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3) 78 all_epithelial(135;0.208) TCTTAGGATCCCCTTCTATAG 0.448000 145 21 0 0 0.000295444 0 0 TTC31 64427 broad.mit.edu 37 2 74718708 74718709 + Missense_Mutation DNP CC TT TT TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr2:74718708_74718709CC>TT uc002slt.2 + 7 808_809 c.785_786CC>TT c.(784-786)ccc>cTT p.P262L TTC31_uc002sls.2_Missense_Mutation_p.P191L|TTC31_uc002slu.2_Missense_Mutation_p.P118L NM_022492 NP_071937 Q49AM3 TTC31_HUMAN Homo sapiens tetratricopeptide repeat domain 31 (TTC31), transcript variant 1, mRNA. 262 binding breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1) 9 AACCAGGAGCCCCAAGGCAGGG 0.589000 41 60 0 0 6.4e-05 0 0 MGC70870 403340 broad.mit.edu 37 GL000205.1 117666 117666 + RNA SNP G C C TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chrGL000205.1:117666G>C uc002kgk.4 + 0 c.1044G>C Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA. CGCGAGTTCAGAGCGTGGAGC 0.612000 12 4 0 0 0.00024832 0 0 SLC2A12 154091 broad.mit.edu 37 6 134349725 134349725 + Missense_Mutation SNP G A A TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr6:134349725G>A uc003qem.1 - 1 1409 c.1238C>T c.(1237-1239)tCc>tTc p.S413F NM_145176 NP_660159 Q8TD20 GTR12_HUMAN Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 12 (SLC2A12), mRNA. 413 endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane D-glucose transmembrane transporter activity p.S413F(2) NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 17 Breast(56;0.214)|Colorectal(23;0.221) OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123) TCTGCTATGGGAAGAAATCCC 0.453000 39 27 0 0 0.000720815 0 0 LIMK2 3985 broad.mit.edu 37 22 31662019 31662019 + Silent SNP C T T TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr22:31662019C>T uc003akh.3 + 7 1087 c.942C>T c.(940-942)tcC>tcT p.S314S LIMK2_uc003aki.3_Silent_p.S68S|LIMK2_uc003akj.3_Silent_p.S293S|LIMK2_uc003akk.3_Silent_p.S293S|LIMK2_uc011aln.2_Silent_p.S231S NM_005569 NP_005560 P53671 LIMK2_HUMAN Homo sapiens LIM domain kinase 2 (LIMK2), transcript variant 2a, mRNA. 314 mitochondrion|nucleus ATP binding|protein serine/threonine kinase activity|zinc ion binding endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1) 29 GCTCAGAATCCCTTCGTTGTT 0.577000 105 38 0 0 0.00111076 0 0 CR2 1380 broad.mit.edu 37 1 207640229 207640229 + Silent SNP G A A TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr1:207640229G>A uc001hfw.3 + 1 536 c.417G>A c.(415-417)ggG>ggA p.G139G CR2_uc001hfv.3_Silent_p.G139G|CR2_uc009xch.3_Silent_p.G139G NM_001877 NP_001868 P20023 CR2_HUMAN Homo sapiens complement component (3d/Epstein Barr virus) receptor 2 (CR2), transcript variant 2, mRNA. 139 Sushi 2. complement activation, classical pathway|innate immune response integral to membrane|plasma membrane complement receptor activity|protein homodimerization activity NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1) 69 ATATGTGGGGGCCGACACGAC 0.473000 58 23 0 0 0.00127121 0 0 PRAMEF11 440560 broad.mit.edu 37 1 12887453 12887453 + Missense_Mutation SNP C T T rs2486714 by1000genomes TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr1:12887453C>T uc001auk.2 - 2 600 c.404G>A c.(403-405)aGa>aAa p.R135K NM_001146344 NP_001139816 O60813 PRA11_HUMAN Homo sapiens PRAME family member 11 (PRAMEF11), mRNA. 135 NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1) 27 TAGTAAATCTCTCCTCTGCTT 0.463000 82 6 0 0 0.000442599 0 0 MICAL2 9645 broad.mit.edu 37 11 12231069 12231070 + Missense_Mutation DNP CC TT TT TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr11:12231069_12231070CC>TT uc001mjz.3 + 5 903_904 c.615_616CC>TT c.(613-618)ctccct>ctTTct p.P206S MICAL2_uc010rch.1_Missense_Mutation_p.P206S|MICAL2_uc001mka.3_Missense_Mutation_p.P206S|MICAL2_uc010rci.2_Missense_Mutation_p.P206S|MICAL2_uc001mkb.3_Missense_Mutation_p.P206S|MICAL2_uc001mkc.3_Missense_Mutation_p.P206S|MICAL2_uc001mkd.3_Missense_Mutation_p.P35S NM_014632 NP_055447 O94851 MICA2_HUMAN Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 2 (MICAL2), mRNA. 206 cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 47 Epithelial(150;0.00552) CAGAATTTCTCCCTACAGACCA 0.520000 80 57 0 0 6.4e-05 0 0 ZNF735 730291 broad.mit.edu 37 7 63679742 63679742 + Missense_Mutation SNP G A A TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr7:63679742G>A uc011kdn.2 + 3 313 c.313G>A c.(313-315)Gat>Aat p.D105N NM_001159524 NP_001152996 P0CB33 ZN735_HUMAN Homo sapiens zinc finger protein 735 (ZNF735), mRNA. 105 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding GAGCATAAAAGATTCACTCCA 0.338000 111 24 0 0 0.000720815 0 0 PCDHB12 56124 broad.mit.edu 37 5 140589663 140589663 + Missense_Mutation SNP C T T TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr5:140589663C>T uc003liz.3 + 0 1373 c.1184C>T c.(1183-1185)tCt>tTt p.S395F PCDHB12_uc011dak.2_Missense_Mutation_p.S58F NM_018932 NP_061755 Q9Y5F1 PCDBC_HUMAN Homo sapiens protocadherin beta 12 (PCDHB12), mRNA. 395 Cadherin 4. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GTGCTAAAATCTTCGGTAAAT 0.488000 30 9 0 0 0.000673444 0 0 TFCP2 7024 broad.mit.edu 37 12 51492621 51492621 + Missense_Mutation SNP A G G TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr12:51492621A>G uc001rxw.3 - 12 2078 c.1357T>C c.(1357-1359)Tgc>Cgc p.C453R TFCP2_uc001rxv.2_Missense_Mutation_p.C453R|TFCP2_uc009zlx.2_Missense_Mutation_p.C402R|TFCP2_uc009zly.1_Missense_Mutation_p.C355R NM_005653 NP_005644 Q12800 TFCP2_HUMAN Homo sapiens transcription factor CP2 (TFCP2), transcript variant 1, mRNA. 453 regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1) 23 CTGATCTGGCAAGGGGAAATG 0.408000 46 21 0 0 0.000375601 0 0 TMEM216 51259 broad.mit.edu 37 11 61161357 61161357 + Splice_Site SNP T G G TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr11:61161357T>G uc021qkf.1 + 3 409 c.137_splice c.e3-1 p.G46_splice TMEM216_uc010rlj.2_Splice_Site_p.G46_splice|TMEM216_uc001nrn.2_Splice_Site NM_001173991 NP_001167462 Q9P0N5 TM216_HUMAN Homo sapiens transmembrane protein 216 (TMEM216), transcript variant 3, mRNA. 39 integral to membrane p.G46G(3) endometrium(1)|large_intestine(2)|lung(1)|prostate(2) 6 TATTGGCAGGTGTCCTGCTAC 0.438000 38 17 0 0 0.000878237 0 0 CYP2A13 1553 broad.mit.edu 37 19 41600879 41600879 + Missense_Mutation SNP C T T TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr19:41600879C>T uc002opt.3 + 7 1186 c.1177C>T c.(1177-1179)Cct>Tct p.P393S NM_000766 NP_000757 Q16696 CP2AD_HUMAN Homo sapiens cytochrome P450, family 2, subfamily A, polypeptide 13 (CYP2A13), mRNA. 393 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding p.P393L(1) breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2) 42 Clomipramine(DB01242)|Nicotine(DB00184) TGAAGTGTTCCCTATGCTGGG 0.572000 79 36 0 0 0.00111076 0 0 ADAM28 10863 broad.mit.edu 37 8 24208805 24208805 + Silent SNP G A A TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr8:24208805G>A uc003xdy.3 + 19 2243 c.2160G>A c.(2158-2160)aaG>aaA p.K720K ADAM28_uc011laa.2_Non-coding_Transcript|ADAM28_uc010lua.3_Silent_p.K407K NM_014265 NP_055080 Q9UKQ2 ADA28_HUMAN Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA. 720 proteolysis|spermatogenesis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 Prostate(55;0.0959) Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175) AGATGGTAAAGGCTGTTCAAC 0.468000 72 35 0 0 0.00148497 0 0 EMID2 136227 broad.mit.edu 37 7 101063375 101063375 + Silent SNP C T T TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr7:101063375C>T uc010lhy.1 + 1 468 c.276C>T c.(274-276)ctC>ctT p.L92L EMID2_uc003uyo.1_Silent_p.L92L NM_133457 NP_597714 Q96A83 EMID2_HUMAN Homo sapiens EMI domain containing 2 (EMID2), mRNA. 92 EMI. collagen breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|skin(1) 18 Lung NSC(181;0.215) GCGCCAACCTCGTAAGGTAAA 0.657000 38 21 0 0 0.00152264 0 0 RNF17 56163 broad.mit.edu 37 13 25448326 25448326 + Missense_Mutation SNP C T T TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr13:25448326C>T uc001upr.3 + 32 4563 c.4522C>T c.(4522-4524)Cct>Tct p.P1508S RNF17_uc010tde.2_Missense_Mutation_p.P1504S|RNF17_uc010aab.3_Non-coding_Transcript|RNF17_uc001ups.3_Missense_Mutation_p.P1447S|RNF17_uc010aac.3_Missense_Mutation_p.P700S|RNF17_uc010aad.3_Missense_Mutation_p.P518S NM_031277 NP_112567 Q9BXT8 RNF17_HUMAN Homo sapiens ring finger protein 17 (RNF17), transcript variant 1, mRNA. 1508 Tudor 4. multicellular organismal development cytoplasm|nucleus hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6) 36 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524) AGAATTTAATCCTTTATCTAT 0.328000 45 29 0 0 0.00127121 0 0 PHF3 23469 broad.mit.edu 37 6 64408495 64408495 + Splice_Site SNP T A A TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr6:64408495T>A uc003pep.1 + 7 3007 c.2982_splice c.e7+1 p.N994_splice PHF3_uc010kah.1_Splice_Site_p.N808_splice|PHF3_uc003pen.2_Splice_Site_p.N906_splice|PHF3_uc011dxs.1_Splice_Site_p.N263_splice NM_015153 NP_055968 Q92576 PHF3_HUMAN Homo sapiens PHD finger protein 3 (PHF3), mRNA. 994 TFIIS central. multicellular organismal development|transcription, DNA-dependent nucleus zinc ion binding breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6) 75 all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121) LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148) CTAAAAACAATGTAAGTATGC 0.289000 37 11 0 0 0.000978159 0 0 GPR112 139378 broad.mit.edu 37 X 135426719 135426719 + Missense_Mutation SNP C T T TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chrX:135426719C>T uc004ezu.1 + 5 1145 c.854C>T c.(853-855)tCa>tTa p.S285L GPR112_uc010nsb.1_Missense_Mutation_p.S80L|GPR112_uc010nsc.1_Missense_Mutation_p.S52L NM_153834 NP_722576 Q8IZF6 GP112_HUMAN Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA. 285 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) ACAACCATATCATATTCCAAT 0.368000 26 22 0 0 0.000295444 0 0 PHF20 51230 broad.mit.edu 37 20 34505530 34505530 + Silent SNP C T T TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr20:34505530C>T uc002xek.1 + 12 2061 c.1950C>T c.(1948-1950)ttC>ttT p.F650F NM_016436 NP_057520 Q9BVI0 PHF20_HUMAN Homo sapiens PHD finger protein 20 (PHF20), mRNA. 650 regulation of transcription, DNA-dependent|transcription, DNA-dependent MLL1 complex DNA binding|zinc ion binding breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 Breast(12;0.00631)|all_lung(11;0.0145) GCTATGACTTCGAGGTGGTCC 0.502000 49 27 0 0 0.000878237 0 0 SLC26A7 115111 broad.mit.edu 37 8 92330577 92330577 + Missense_Mutation SNP C T T TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr8:92330577C>T uc003yez.3 + 4 850 c.611C>T c.(610-612)cCa>cTa p.P204L SLC26A7_uc003yex.3_Missense_Mutation_p.P204L|SLC26A7_uc003yey.3_Non-coding_Transcript|SLC26A7_uc003yfa.3_Missense_Mutation_p.P204L NM_134266 NP_599028 Q8TE54 S26A7_HUMAN Homo sapiens solute carrier family 26, member 7 (SLC26A7), transcript variant 2, mRNA. 204 basolateral plasma membrane|integral to membrane|recycling endosome membrane anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1) 50 BRCA - Breast invasive adenocarcinoma(11;0.00802) ATGAAAATGCCATATATATCC 0.398000 105 31 0 0 0.00058488 0 0 IL36RN 26525 broad.mit.edu 37 2 113820044 113820044 + Missense_Mutation SNP G T T TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr2:113820044G>T uc002tis.3 + 4 391 c.258G>T c.(256-258)atG>atT p.M86I IL36RN_uc002tit.3_Missense_Mutation_p.M86I NM_173170 NP_775262 Q9UBH0 I36RA_HUMAN Homo sapiens interleukin 36 receptor antagonist (IL36RN), transcript variant 2, mRNA. 86 extracellular space cytokine activity|interleukin-1 receptor antagonist activity large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 11 TGAACATCATGGAGCTCTATC 0.627000 40 4 0.00116845 0.00710166 0.00116845 1 0 MFSD12 126321 broad.mit.edu 37 19 3544870 3544870 + Missense_Mutation SNP C T T TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr19:3544870C>T uc002lxw.3 - 8 1527 c.1357G>A c.(1357-1359)Gtg>Atg p.V453M MFSD12_uc002lxx.3_Missense_Mutation_p.V453M|MFSD12_uc002lxy.3_Missense_Mutation_p.V444M|MFSD12_uc002lxz.3_Missense_Mutation_p.V453M NM_021731 NP_068377 Q6NUT3 CS028_HUMAN Homo sapiens major facilitator superfamily domain containing 12 (MFSD12), transcript variant 1, mRNA. 453 transmembrane transport integral to membrane cervix(1)|endometrium(2)|lung(4)|urinary_tract(2) 9 GCCACGCCCACGCCGCCCGTC 0.687000 OREG0025153 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 17 10 0 0 0.000673444 0 0 PIGL 9487 broad.mit.edu 37 17 16120579 16120579 + Silent SNP C G G TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr17:16120579C>G uc002gpv.3 + 0 71 c.39C>G c.(37-39)gtC>gtG p.V13V NCOR1_uc002gpo.3_5'Flank|PIGL_uc010vwd.2_Silent_p.V13V|NCOR1_uc002gps.2_5'Flank|NCOR1_uc010cpb.2_5'Flank|NCOR1_uc010coz.2_5'Flank|NCOR1_uc010cpa.2_5'Flank|NCOR1_uc002gpu.3_5'Flank NM_004278 NP_004269 Q9Y2B2 PIGL_HUMAN Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class L (PIGL), mRNA. 13 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane N-acetylglucosaminylphosphatidylinositol deacetylase activity p.V13A(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1) 11 UCEC - Uterine corpus endometrioid carcinoma (92;0.0934) CGTTGGCGGTCTTGGCATGGG 0.612000 59 17 0 0 0.00121646 0 0 KCNQ3 3786 broad.mit.edu 37 8 133192555 133192555 + Missense_Mutation SNP G A A TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr8:133192555G>A uc003ytj.3 - 3 851 c.626C>T c.(625-627)tCt>tTt p.S209F KCNQ3_uc003yti.3_Missense_Mutation_p.S89F|KCNQ3_uc010mdt.3_Missense_Mutation_p.S209F NM_004519 NP_004510 O43525 KCNQ3_HUMAN Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 3 (KCNQ3), transcript variant 1, mRNA. 209 axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 70 Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000311) CACTGGCACAGAGGCAATCAG 0.572000 82 29 0 0 0.00106085 0 0 MYCBP2 23077 broad.mit.edu 37 13 77862354 77862355 + Missense_Mutation DNP CC AA AA TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr13:77862354_77862355CC>AA uc021rks.1 - 2 802_803 c.535_536GG>TT c.(535-537)gga>TTa p.G179L MYCBP2_uc010aev.3_5'UTR NM_015057 NP_055872 O75592 MYCB2_HUMAN Homo sapiens MYC binding protein 2 (MYCBP2), mRNA. 141 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) ATCTGATTCTCCACTCTGCACA 0.411000 240 8 0 0 6.4e-05 0 0 C11orf9 745 broad.mit.edu 37 11 61543557 61543557 + Silent SNP C T T TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr11:61543557C>T uc001nsc.1 + 8 1437 c.1341C>T c.(1339-1341)atC>atT p.I447I C11orf9_uc001nse.1_Silent_p.I438I|C11orf9_uc010rll.1_5'Flank NM_001127392 NP_001120864 Q9Y2G1 MRF_HUMAN Homo sapiens chromosome 11 open reading frame 9 (C11orf9), transcript variant 2, mRNA. 447 central nervous system myelination|positive regulation of myelination|positive regulation of transcription, DNA-dependent integral to membrane|nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(1) 29 CCATTAACATCGAGCAGTCCC 0.622000 29 12 0 0 0.00185496 0 0 CDK17 5128 broad.mit.edu 37 12 96691070 96691070 + Missense_Mutation SNP A G G TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr12:96691070A>G uc001tep.2 - 8 1483 c.851T>C c.(850-852)aTc>aCc p.I284T CDK17_uc009ztk.3_Missense_Mutation_p.I284T|CDK17_uc010svb.2_Missense_Mutation_p.I231T NM_002595 NP_002586 Q00537 CDK17_HUMAN Homo sapiens cyclin-dependent kinase 17 (CDK17), transcript variant 1, mRNA. 284 Protein kinase. ATP binding|cyclin-dependent protein kinase activity breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(11)|ovary(4)|prostate(2)|skin(1) 37 CATACTCATGATGTTTCCACA 0.363000 24 6 0 0 8.12818e-05 0 0 RYR2 6262 broad.mit.edu 37 1 237872838 237872839 + Frame_Shift_Ins INS - A A TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr1:237872838_237872839insA uc001hyl.1 + 69 10321_10322 c.10201_10202insA c.(10201-10203)gaafs p.E3401fs RYR2_uc010pxz.1_Frame_Shift_Ins_p.E356fs NM_001035 NP_001026 Q92736 RYR2_HUMAN Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA. 3401 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) CATGGTGGCTGAAGTGTTTATC 0.455 --- 15 --- --- 13 --- ZNF395 55893 broad.mit.edu 37 8 28209226 28209228 + In_Frame_Del DEL GCA - - rs142343457 byFrequency TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr8:28209226_28209228delGCA uc003xgq.3 - 6 1105_1107 c.1017_1019delTGC c.(1015-1020)gctgcc>gcc p.339_340AA>A ZNF395_uc003xgt.3_In_Frame_Del_p.339_340AA>A|ZNF395_uc003xgr.3_In_Frame_Del_p.339_340AA>A|ZNF395_uc003xgs.3_In_Frame_Del_p.339_340AA>A NM_018660 NP_061130 Q9H8N7 ZN395_HUMAN Homo sapiens zinc finger protein 395 (ZNF395), mRNA. 339 transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 Ovarian(32;2.06e-05) KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142) GGTGCCTgcggcagcagcagcag 0.606 --- 156 --- --- 8 --- OR6C3 254786 broad.mit.edu 37 12 55726010 55726011 + Frame_Shift_Del DEL TG - - TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr12:55726010_55726011delTG uc010spj.2 + 0 526_527 c.526_527delTG c.(526-528)tgtfs p.C176fs NM_054104 NP_473445 Q9NZP0 OR6C3_HUMAN Homo sapiens olfactory receptor, family 6, subfamily C, member 3 (OR6C3), mRNA. 176 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2) 11 TCACTTTGCATGTGACTATTTT 0.436 --- 323 --- --- 10 --- abParts 0 broad.mit.edu 37 14 106774086 106774087 + Splice_Site INS - AGTAATACACGGCA AGTAATACACGGCA TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr14:106774086_106774087insAGTAATACACGGCA uc021ser.1 - 684 c.18723_splice c.e684+1 Parts of antibodies, mostly variable regions. GCCTCTTGCACGTGTCCTCAGC 0.550 --- 4 --- --- 2 --- AQR 9716 broad.mit.edu 37 15 35233143 35233143 + Frame_Shift_Del DEL T - - TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82b28667-3205-4d4b-8c3e-2bde4ccbd2f6 70f95dbd-6497-4bb0-a27f-4676281532d1 g.chr15:35233143delT uc001ziv.3 - 7 779 c.598delA c.(598-600)attfs p.I200fs NM_014691 NP_055506 O60306 AQR_HUMAN Homo sapiens aquarius homolog (mouse) (AQR), mRNA. 200 catalytic step 2 spliceosome RNA binding breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2) 57 Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08) all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283) TTCTTTTTAATCAAGTTCCAG 0.358 --- 147 --- --- 58 ---