Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut PGBD2 267002 broad.mit.edu 37 1 249211398 249211398 + Silent SNP C C A TCGA-IM-A3EB-01A-11D-A202-08 TCGA-IM-A3EB-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d2ce873-ca14-42b9-97c2-6d62990c8e29 ee7db9b2-b212-4456-8a4b-ef93d52aea0d g.chr1:249211398C>A uc001ifh.3 + 2 762 c.615C>A c.(613-615)ccC>ccA p.P205P PGBD2_uc001ifg.3_Intron|PGBD2_uc009xhd.3_Silent_p.P202P|PGBD2_uc021pmh.1_5'Flank NM_170725 NP_001017434 Q6P3X8 PGBD2_HUMAN Homo sapiens piggyBac transposable element derived 2 (PGBD2), transcript variant 1, mRNA. 205 p.P205P(1) NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3) 14 all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199) all_cancers(173;0.012) OV - Ovarian serous cystadenocarcinoma(106;0.00989) AAACCTCTCCCGATTCACATC 0.398000 4 203 0 0 1 0 0 RGMB 285704 broad.mit.edu 37 5 98115491 98115491 + Missense_Mutation SNP T T A TCGA-IM-A3EB-01A-11D-A202-08 TCGA-IM-A3EB-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d2ce873-ca14-42b9-97c2-6d62990c8e29 ee7db9b2-b212-4456-8a4b-ef93d52aea0d g.chr5:98115491T>A uc003knc.3 + 3 869 c.467T>A c.(466-468)cTc>cAc p.L156H RGMB_uc003knb.2_Missense_Mutation_p.L156H NM_001012761 NP_001012779 Q6NW40 RGMB_HUMAN Homo sapiens RGM domain family, member B (RGMB), mRNA. 115 BMP signaling pathway|axon guidance|cell adhesion|positive regulation of transcription, DNA-dependent ER-Golgi intermediate compartment|anchored to plasma membrane|membrane raft identical protein binding haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1) 10 all_cancers(142;2.76e-08)|all_epithelial(76;2.98e-11)|all_lung(232;0.000485)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|Ovarian(225;0.024)|Colorectal(57;0.117) COAD - Colon adenocarcinoma(37;0.0587) ATCAGTGACCTCATGAGCCAG 0.557000 3 65 0 0 1 0 0 OR6S1 341799 broad.mit.edu 37 14 21109731 21109731 + Missense_Mutation SNP A A T TCGA-IM-A3EB-01A-11D-A202-08 TCGA-IM-A3EB-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d2ce873-ca14-42b9-97c2-6d62990c8e29 ee7db9b2-b212-4456-8a4b-ef93d52aea0d g.chr14:21109731A>T uc001vxv.1 - 0 120 c.120T>A c.(118-120)aaT>aaA p.N40K NM_001001968 NP_001001968 Q8NH40 OR6S1_HUMAN Homo sapiens olfactory receptor, family 6, subfamily S, member 1 (OR6S1), mRNA. 40 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 all_cancers(95;0.00304) Epithelial(56;1.23e-06)|all cancers(55;1.01e-05) GBM - Glioblastoma multiforme(265;0.0135) TGCCTGTCAGATTCAGGAGAT 0.473000 19 119 0 0 1 0 0 C11orf65 160140 broad.mit.edu 37 11 108332225 108332225 + Missense_Mutation SNP T T C TCGA-IM-A3EB-01A-11D-A202-08 TCGA-IM-A3EB-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d2ce873-ca14-42b9-97c2-6d62990c8e29 ee7db9b2-b212-4456-8a4b-ef93d52aea0d g.chr11:108332225T>C uc001pkh.3 - 1 132 c.62A>G c.(61-63)cAg>cGg p.Q21R C11orf65_uc010rvx.1_Missense_Mutation_p.Q21R|C11orf65_uc009yxu.2_Non-coding_Transcript NM_152587 NP_689800 Q8NCR3 CK065_HUMAN Homo sapiens chromosome 11 open reading frame 65 (C11orf65), mRNA. 21 endometrium(1)|large_intestine(3)|lung(4)|ovary(2) 10 all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;8.21e-06)|BRCA - Breast invasive adenocarcinoma(274;1.01e-05)|all cancers(92;0.000189)|Colorectal(284;0.114)|OV - Ovarian serous cystadenocarcinoma(223;0.144) TTTCCAGGCCTGCTGAATGAC 0.299000 3 79 0 0 1 0 0 CASP14 23581 broad.mit.edu 37 19 15166255 15166255 + Nonsense_Mutation SNP C C T TCGA-IM-A3EB-01A-11D-A202-08 TCGA-IM-A3EB-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d2ce873-ca14-42b9-97c2-6d62990c8e29 ee7db9b2-b212-4456-8a4b-ef93d52aea0d g.chr19:15166255C>T uc010dzv.2 + 5 747 c.535C>T c.(535-537)Cga>Tga p.R179* NM_012114 NP_036246 P31944 CASPE_HUMAN Homo sapiens caspase 14, apoptosis-related cysteine peptidase (CASP14), mRNA. 179 apoptosis|cell differentiation|epidermis development|proteolysis cytoplasm|nucleus cysteine-type endopeptidase activity p.R179*(2) NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(3) 26 CATCGCCTACCGACATGATCA 0.537000 3 105 0 0 1 0 0 CSRNP2 81566 broad.mit.edu 37 12 51467752 51467752 + Missense_Mutation SNP C C G TCGA-IM-A3EB-01A-11D-A202-08 TCGA-IM-A3EB-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d2ce873-ca14-42b9-97c2-6d62990c8e29 ee7db9b2-b212-4456-8a4b-ef93d52aea0d g.chr12:51467752C>G uc021qxx.1 - 2 777 c.265G>C c.(265-267)Ggt>Cgt p.G89R CSRNP2_uc001rxu.2_Missense_Mutation_p.G89R NM_030809 NP_110436 Q9H175 CSRN2_HUMAN Homo sapiens cysteine-serine-rich nuclear protein 2 (CSRNP2), transcript variant 1, mRNA. 89 apoptosis|positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1) 14 GAGCTACCACCCTGGCTGGGC 0.552000 9 118 0 0 1 0 0 OR1K1 392392 broad.mit.edu 37 9 125563190 125563190 + Silent SNP C C A TCGA-IM-A3EB-01A-11D-A202-08 TCGA-IM-A3EB-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d2ce873-ca14-42b9-97c2-6d62990c8e29 ee7db9b2-b212-4456-8a4b-ef93d52aea0d g.chr9:125563190C>A uc011lze.2 + 0 789 c.789C>A c.(787-789)gcC>gcA p.A263A NM_080859 NP_543135 Q8NGR3 OR1K1_HUMAN Homo sapiens olfactory receptor, family 1, subfamily K, member 1 (OR1K1), mRNA. 263 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(8)|lung(2)|ovary(1)|skin(4)|stomach(1) 17 ACTTCCAGGCCACATCCCGAC 0.612000 4 146 0 0 1 0 0 LRPAP1 4043 broad.mit.edu 37 4 3534117 3534117 + Missense_Mutation SNP G G A TCGA-IM-A3EB-01A-11D-A202-08 TCGA-IM-A3EB-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d2ce873-ca14-42b9-97c2-6d62990c8e29 ee7db9b2-b212-4456-8a4b-ef93d52aea0d g.chr4:3534117G>A uc003ghh.4 - 0 108 c.23C>T c.(22-24)tCg>tTg p.S8L NM_002337 NP_002328 P30533 AMRP_HUMAN Homo sapiens low density lipoprotein receptor-related protein associated protein 1 (LRPAP1), mRNA. 8 negative regulation of protein binding|negative regulation of very-low-density lipoprotein particle clearance|protein folding|vesicle-mediated transport cell surface|integral to membrane|plasma membrane asialoglycoprotein receptor activity|heparin binding|low-density lipoprotein particle receptor binding|receptor antagonist activity|unfolded protein binding|very-low-density lipoprotein particle receptor binding breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2) 14 UCEC - Uterine corpus endometrioid carcinoma (64;0.165) GCGCAGAAACGACCTGACCCT 0.711000 3 4 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179529585 179529585 + Missense_Mutation SNP C C A TCGA-IM-A3EB-01A-11D-A202-08 TCGA-IM-A3EB-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d2ce873-ca14-42b9-97c2-6d62990c8e29 ee7db9b2-b212-4456-8a4b-ef93d52aea0d g.chr2:179529585C>A uc010zfk.1 - 10 1098 c.550G>T c.(550-552)Gtt>Ttt p.V184F MIR548N_uc021vsx.1_Intron|TTN_uc021vsy.1_Intron|TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Intron|TTN_uc010fre.1_Intron Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 11394 Ig-like 2. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.G183E(1) 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) GTACCTTTAACTGATGGGGGT 0.383000 5 15 0 0 1 0 0 SHC1 6464 broad.mit.edu 37 1 154940985 154940985 + Missense_Mutation SNP C C T TCGA-IM-A3EB-01A-11D-A202-08 TCGA-IM-A3EB-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d2ce873-ca14-42b9-97c2-6d62990c8e29 ee7db9b2-b212-4456-8a4b-ef93d52aea0d g.chr1:154940985C>T uc001ffw.3 - 3 957 c.736G>A c.(736-738)Gca>Aca p.A246T SHC1_uc001ffv.3_Missense_Mutation_p.A246T|SHC1_uc001ffx.3_Missense_Mutation_p.A136T|SHC1_uc001ffy.3_Missense_Mutation_p.A136T|SHC1_uc001ffz.1_Missense_Mutation_p.A17T NM_001130040 NP_003020 P29353 SHC1_HUMAN Homo sapiens SHC (Src homology 2 domain containing) transforming protein 1 (SHC1), transcript variant 3, mRNA. 246 PID. Ras protein signal transduction|activation of MAPK activity|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|positive regulation of DNA replication|regulation of epidermal growth factor receptor activity|regulation of growth Shc-EGFR complex|cytosol|mitochondrial matrix epidermal growth factor receptor binding|insulin receptor binding|insulin-like growth factor receptor binding|phospholipid binding|protein binding|transmembrane receptor protein tyrosine kinase adaptor activity breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1) 20 all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00034) TTGCAGTCTGCGGCCATGAGG 0.552000 5 469 0 0 1 0 0 HS3ST5 222537 broad.mit.edu 37 6 114379018 114379018 + Silent SNP A A G TCGA-IM-A3EB-01A-11D-A202-08 TCGA-IM-A3EB-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d2ce873-ca14-42b9-97c2-6d62990c8e29 ee7db9b2-b212-4456-8a4b-ef93d52aea0d g.chr6:114379018A>G uc003pwh.4 - 4 964 c.444T>C c.(442-444)ccT>ccC p.P148P BC042098_uc003pwf.3_Intron|HS3ST5_uc003pwg.4_Silent_p.P148P NM_153612 NP_705840 Q8IZT8 HS3S5_HUMAN Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 5 (HS3ST5), mRNA. 148 heparan sulfate proteoglycan biosynthetic process, enzymatic modification|negative regulation of coagulation|protein sulfation|regulation of virion penetration into host cell Golgi membrane|integral to membrane 3'-phosphoadenosine 5'-phosphosulfate binding|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|protein binding breast(4)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 41 all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154) OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143) TGATTTGCTGAGGGTAGGAAA 0.373000 67 133 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-IM-A3EB-01A-11D-A202-08 TCGA-IM-A3EB-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d2ce873-ca14-42b9-97c2-6d62990c8e29 ee7db9b2-b212-4456-8a4b-ef93d52aea0d 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 23 59 0 0 1 0 0 PLA2R1 22925 broad.mit.edu 37 2 160869870 160869870 + Missense_Mutation SNP C C A TCGA-IM-A3EB-01A-11D-A202-08 TCGA-IM-A3EB-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d2ce873-ca14-42b9-97c2-6d62990c8e29 ee7db9b2-b212-4456-8a4b-ef93d52aea0d g.chr2:160869870C>A uc002ube.2 - 9 1780 c.1568G>T c.(1567-1569)gGt>gTt p.G523V PLA2R1_uc010zcp.2_Missense_Mutation_p.G523V|PLA2R1_uc002ubf.3_Missense_Mutation_p.G523V NM_007366 NP_031392 Q13018 PLA2R_HUMAN Homo sapiens phospholipase A2 receptor 1, 180kDa (PLA2R1), transcript variant 1, mRNA. 523 C-type lectin 3. RHG -> ETC (in Ref. 1; AAA70110/ AAC50163). endocytosis extracellular space|integral to plasma membrane receptor activity|sugar binding PLA2R1/RBMS1(2) central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 60 ACAGAATCCACCATGTCTCTC 0.378000 16 43 0 0 1 0 0 SRSF2 6427 broad.mit.edu 37 17 74732250 74732250 + Missense_Mutation SNP G G C TCGA-IM-A3EB-01A-11D-A202-08 TCGA-IM-A3EB-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d2ce873-ca14-42b9-97c2-6d62990c8e29 ee7db9b2-b212-4456-8a4b-ef93d52aea0d g.chr17:74732250G>C uc002jsy.4 - 1 910 c.659C>G c.(658-660)tCc>tGc p.S220C SRSF2_uc010wtg.2_Missense_Mutation_p.S208C|SRSF2_uc002jsv.3_Missense_Mutation_p.S220C|SRSF2_uc002jsw.2_Non-coding_Transcript|MFSD11_uc002jsz.1_5'Flank|MFSD11_uc002jta.2_5'Flank|MFSD11_uc002jtd.4_5'Flank|MFSD11_uc002jtb.3_5'Flank|MFSD11_uc002jtc.3_5'Flank|MFSD11_uc002jte.3_5'Flank|MFSD11_uc010dhb.3_5'Flank|MFSD11_uc010dha.3_5'Flank NM_001195427 NP_001182356 Q01130 SRSF2_HUMAN Homo sapiens serine/arginine-rich splicing factor 2 (SRSF2), transcript variant 2, mRNA. 220 Arg/Ser-rich (RS domain). mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription nuclear speck RNA binding|nucleotide binding|protein binding|transcription corepressor activity haematopoietic_and_lymphoid_tissue(320)|kidney(2)|large_intestine(1)|lung(4)|prostate(2) 329 TTCTTAAGAGGACACCGCTCC 0.483000 Mis """MDS, CLL""" 3 146 0 0 1 0 0 ANXA3 306 broad.mit.edu 37 4 79525503 79525503 + Silent SNP C C A TCGA-IM-A3EB-01A-11D-A202-08 TCGA-IM-A3EB-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d2ce873-ca14-42b9-97c2-6d62990c8e29 ee7db9b2-b212-4456-8a4b-ef93d52aea0d g.chr4:79525503C>A uc003hld.3 + 11 1172 c.862C>A c.(862-864)Cga>Aga p.R288R NM_005139 NP_005130 P12429 ANXA3_HUMAN Homo sapiens annexin A3 (ANXA3), mRNA. 288 defense response to bacterium|neutrophil degranulation|phagocytosis|positive regulation of angiogenesis|positive regulation of endothelial cell migration|positive regulation of sequence-specific DNA binding transcription factor activity phagocytic vesicle membrane|plasma membrane|specific granule calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 15 TTTGGACATTCGAACAGAGTT 0.368000 3 94 0 0 1 0 0 LAMA2 3908 broad.mit.edu 37 6 129588337 129588337 + Silent SNP C C A TCGA-IM-A3EB-01A-11D-A202-08 TCGA-IM-A3EB-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d2ce873-ca14-42b9-97c2-6d62990c8e29 ee7db9b2-b212-4456-8a4b-ef93d52aea0d g.chr6:129588337C>A uc021zfb.1 + 15 2400 c.2295C>A c.(2293-2295)tcC>tcA p.S765S LAMA2_uc003qbn.3_Silent_p.S765S|LAMA2_uc003qbo.3_Silent_p.S765S NM_000426 NP_000417 P24043 LAMA2_HUMAN Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA. 765 Laminin EGF-like 6. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity p.S765Y(1) NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2) 194 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) ATGCGGAGTCCTGTGATGACG 0.488000 4 227 0 0 1 0 0 NAP1L4 4676 broad.mit.edu 37 11 2981037 2981037 + Missense_Mutation SNP A A G TCGA-IM-A3EB-01A-11D-A202-08 TCGA-IM-A3EB-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d2ce873-ca14-42b9-97c2-6d62990c8e29 ee7db9b2-b212-4456-8a4b-ef93d52aea0d g.chr11:2981037A>G uc010qxm.2 - 9 993 c.709T>C c.(709-711)Ttt>Ctt p.F237L NAP1L4_uc001lxc.3_Missense_Mutation_p.F237L|NAP1L4_uc010qxn.2_Missense_Mutation_p.F237L NM_005969 NP_005960 Q99733 NP1L4_HUMAN Homo sapiens nucleosome assembly protein 1-like 4 (NAP1L4), mRNA. 237 nucleosome assembly chromatin assembly complex|cytoplasm unfolded protein binding endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|ovary(1) 13 all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681) BRCA - Breast invasive adenocarcinoma(625;0.00301)|LUSC - Lung squamous cell carcinoma(625;0.211) TCAAAGGAAAAGGGATCAGCC 0.373000 3 69 0 0 1 0 0 SAMSN1 64092 broad.mit.edu 37 21 15893509 15893509 + Missense_Mutation SNP G G A TCGA-IM-A3EB-01A-11D-A202-08 TCGA-IM-A3EB-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d2ce873-ca14-42b9-97c2-6d62990c8e29 ee7db9b2-b212-4456-8a4b-ef93d52aea0d g.chr21:15893509G>A uc002yjv.1 - 2 470 c.295C>T c.(295-297)Cgg>Tgg p.R99W SAMSN1_uc002yju.1_Missense_Mutation_p.R31W|SAMSN1_uc010gky.1_Intron NM_022136 NP_071419 Q9NSI8 SAMN1_HUMAN Homo sapiens SAM domain, SH3 domain and nuclear localization signals 1 (SAMSN1), transcript variant 1, mRNA. 31 negative regulation of B cell activation|negative regulation of adaptive immune response|negative regulation of peptidyl-tyrosine phosphorylation cytoplasm|nucleus|ruffle phosphotyrosine binding breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1) 24 Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164) GAATTATTCCGAAAACGATCG 0.299000 5 29 0 0 1 0 0 C7orf42 55069 broad.mit.edu 37 7 66410130 66410130 + Silent SNP G G T TCGA-IM-A3EB-01A-11D-A202-08 TCGA-IM-A3EB-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d2ce873-ca14-42b9-97c2-6d62990c8e29 ee7db9b2-b212-4456-8a4b-ef93d52aea0d g.chr7:66410130G>T uc003tvk.3 + 2 591 c.327G>T c.(325-327)ccG>ccT p.P109P C7orf42_uc010lah.3_Non-coding_Transcript NM_017994 NP_060464 Q9NWD8 CG042_HUMAN Homo sapiens chromosome 7 open reading frame 42 (C7orf42), mRNA. 109 integral to membrane breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1) 17 ACTCGGGCCCGGTGAATATCT 0.582000 3 88 0 0 1 0 0