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 CDKL5 6792 broad.mit.edu 37 X 18664181 18664181 + Missense_Mutation SNP G G A TCGA-DJ-A13S-01A-11D-A10S-08 TCGA-DJ-A13S-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b564c58-40b0-4d9b-a372-12249a31a765 22668d43-8a18-4cd4-ad8e-ec4e37ce4a38 g.chrX:18664181G>A ENST00000379989.3 + 20 3053 c.2768G>A c.(2767-2769)cGc>cAc p.R923H RS1_ENST00000379984.3_Intron|CDKL5_ENST00000379996.3_Missense_Mutation_p.R923H|RS1_ENST00000476595.1_Intron NM_001037343.1 NP_001032420.1 O76039 CDKL5_HUMAN cyclin-dependent kinase-like 5 923 R -> C. neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation dendrite cytoplasm|dendritic growth cone|nucleus ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1) 44 Hepatocellular(33;0.183) caagatagacgcttcatgtta 0.478000 20 77 0 0 1 0 0 EPB41L1 2036 broad.mit.edu 37 20 34809819 34809819 + Missense_Mutation SNP G G A TCGA-DJ-A13S-01A-11D-A10S-08 TCGA-DJ-A13S-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b564c58-40b0-4d9b-a372-12249a31a765 22668d43-8a18-4cd4-ad8e-ec4e37ce4a38 g.chr20:34809819G>A ENST00000338074.2 + 20 2634 c.2473G>A c.(2473-2475)Gag>Aag p.E825K EPB41L1_ENST00000441639.1_Missense_Mutation_p.E723K|EPB41L1_ENST00000373941.1_Missense_Mutation_p.E824K|EPB41L1_ENST00000373950.2_Missense_Mutation_p.E716K|EPB41L1_ENST00000373946.3_Missense_Mutation_p.E645K|EPB41L1_ENST00000202028.5_Missense_Mutation_p.E723K NM_001258329.1|NM_012156.2 NP_001245258.1|NP_036288.2 Q9H4G0 E41L1_HUMAN erythrocyte membrane protein band 4.1-like 1 825 Carboxyl-terminal (CTD). cortical actin cytoskeleton organization|synaptic transmission cytoskeleton|cytosol|extrinsic to membrane|plasma membrane actin binding|structural molecule activity breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 37 Breast(12;0.0239) GACAAGGATCGAGAAGCGAAT 0.552000 27 51 0 0 1 0 0 PIPSL 0 broad.mit.edu 37 10 95718474 95718474 + RNA SNP A A G rs829225 by1000genomes TCGA-DJ-A13S-01A-11D-A10S-08 TCGA-DJ-A13S-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b564c58-40b0-4d9b-a372-12249a31a765 22668d43-8a18-4cd4-ad8e-ec4e37ce4a38 g.chr10:95718474A>G ENST00000480546.1 - 0 2823 NR_002319.2 TATTTAGGCTATAATGATTAC 0.373000 2 16 0 0 1 0 0 POTEC 388468 broad.mit.edu 37 18 14513764 14513764 + Missense_Mutation SNP C C T TCGA-DJ-A13S-01A-11D-A10S-08 TCGA-DJ-A13S-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b564c58-40b0-4d9b-a372-12249a31a765 22668d43-8a18-4cd4-ad8e-ec4e37ce4a38 g.chr18:14513764C>T ENST00000358970.5 - 10 1429 c.1430G>A c.(1429-1431)cGg>cAg p.R477Q NM_001137671.1 NP_001131143.1 B2RU33 POTEC_HUMAN POTE ankyrin domain family, member C 477 p.R477Q(12) NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 AAGTTGTTTCCGGGTATCATT 0.358000 4 96 0 0 1 0 0 NAV3 89795 broad.mit.edu 37 12 78401006 78401006 + Missense_Mutation SNP A A C TCGA-DJ-A13S-01A-11D-A10S-08 TCGA-DJ-A13S-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b564c58-40b0-4d9b-a372-12249a31a765 22668d43-8a18-4cd4-ad8e-ec4e37ce4a38 g.chr12:78401006A>C ENST00000397909.2 + 8 1861 c.1688A>C c.(1687-1689)cAg>cCg p.Q563P NAV3_ENST00000536525.2_Missense_Mutation_p.Q563P|NAV3_ENST00000266692.7_Missense_Mutation_p.Q563P|NAV3_ENST00000228327.6_Missense_Mutation_p.Q563P Q8IVL0 NAV3_HUMAN neuron navigator 3 563 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1) 236 AGCCCTTCCCAGTCCTTATCT 0.498000 HNSCC(70;0.22) 53 88 0 0 1 0 0 RAB3C 115827 broad.mit.edu 37 5 58120914 58120914 + Missense_Mutation SNP G G T TCGA-DJ-A13S-01A-11D-A10S-08 TCGA-DJ-A13S-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b564c58-40b0-4d9b-a372-12249a31a765 22668d43-8a18-4cd4-ad8e-ec4e37ce4a38 g.chr5:58120914G>T ENST00000282878.4 + 4 590 c.421G>T c.(421-423)Gtt>Ttt p.V141F NM_138453.2 NP_612462.1 Q96E17 RAB3C_HUMAN RAB3C, member RAS oncogene family 141 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|ovary(1) 21 all_cancers(5;9.93e-10)|all_epithelial(5;1.49e-10)|all_lung(5;8.97e-05)|Lung NSC(5;0.000139)|Prostate(74;0.0664) OV - Ovarian serous cystadenocarcinoma(10;1.8e-34) AGTTATTCTGGTTGGGAACAA 0.398000 37 65 3.21399e-22 3.72823e-22 1 1 0 PTPN13 0 broad.mit.edu 37 4 87662917 87662917 + Missense_Mutation SNP G G A TCGA-DJ-A13S-01A-11D-A10S-08 TCGA-DJ-A13S-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b564c58-40b0-4d9b-a372-12249a31a765 22668d43-8a18-4cd4-ad8e-ec4e37ce4a38 g.chr4:87662917G>A ENST00000436978.1 + 16 2915 c.2435G>A c.(2434-2436)cGc>cAc p.R812H PTPN13_ENST00000411767.2_Missense_Mutation_p.R812H|PTPN13_ENST00000316707.6_Missense_Mutation_p.R812H|PTPN13_ENST00000511467.1_Missense_Mutation_p.R812H|PTPN13_ENST00000427191.2_Missense_Mutation_p.R812H NM_080683.2|NM_080685.2 NP_542414.1|NP_542416.1 Q12923 PTN13_HUMAN protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase) 812 FERM. cytoplasm|cytoskeleton|plasma membrane protein binding|protein tyrosine phosphatase activity NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.00082) AATGGAGTGCGCACATTGGTC 0.388000 3 36 0 0 1 0 0 KLHDC2 23588 broad.mit.edu 37 14 50241313 50241313 + Missense_Mutation SNP T T C TCGA-DJ-A13S-01A-11D-A10S-08 TCGA-DJ-A13S-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b564c58-40b0-4d9b-a372-12249a31a765 22668d43-8a18-4cd4-ad8e-ec4e37ce4a38 g.chr14:50241313T>C ENST00000298307.5 + 3 1129 c.268T>C c.(268-270)Tct>Cct p.S90P KLHDC2_ENST00000557247.1_Missense_Mutation_p.S90P|KLHDC2_ENST00000553538.1_3'UTR|KLHDC2_ENST00000554589.1_Missense_Mutation_p.S90P NM_014315.2 NP_055130.1 Q9Y2U9 KLDC2_HUMAN kelch domain containing 2 90 nucleus protein binding endometrium(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 all_epithelial(31;0.000959)|Breast(41;0.0117) TGTTCCTCCTTCTATGTCAGG 0.383000 20 283 0 0 1 0 0 NRAS 4893 broad.mit.edu 37 1 115256529 115256529 + Missense_Mutation SNP T T C rs11554290 TCGA-DJ-A13S-01A-11D-A10S-08 TCGA-DJ-A13S-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b564c58-40b0-4d9b-a372-12249a31a765 22668d43-8a18-4cd4-ad8e-ec4e37ce4a38 g.chr1:115256529T>C ENST00000369535.4 - 3 435 c.182A>G c.(181-183)cAa>cGa p.Q61R NM_002524.4 NP_002515.1 P01111 RASN_HUMAN neuroblastoma RAS viral (v-ras) oncogene homolog 61 Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction Golgi membrane|plasma membrane GTP binding|GTPase activity p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1) NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13) 3085 all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) GTACTCTTCTTGTCCAGCTGT 0.458000 Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID) 50 Mis """melanoma, MM, AML, thyroid""" Noonan syndrome TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6) 124 186 0 0 1 0 0 C16orf3 750 broad.mit.edu 37 16 90095572 90095572 + Missense_Mutation SNP A A G rs115327765 by1000genomes TCGA-DJ-A13S-01A-11D-A10S-08 TCGA-DJ-A13S-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b564c58-40b0-4d9b-a372-12249a31a765 22668d43-8a18-4cd4-ad8e-ec4e37ce4a38 g.chr16:90095572A>G ENST00000408886.2 - 1 737 c.179T>C c.(178-180)gTa>gCa p.V60A GAS8_ENST00000540721.1_Intron|GAS8_ENST00000268699.4_Intron|GAS8_ENST00000536122.1_Intron NM_001214.3 NP_001205.3 O95177 CP003_HUMAN chromosome 16 open reading frame 3 68 large_intestine(1)|lung(2)|prostate(1) 4 all_cancers(9;9.01e-08)|Hepatocellular(780;0.000325)|Lung NSC(15;0.0104)|all_lung(18;0.0239) BRCA - Breast invasive adenocarcinoma(80;0.0272) ggggcaggctacggggcagct 0.667000 3 13 0 0 1 0 0 MATR3 9782 broad.mit.edu 37 5 138643173 138643173 + Silent SNP G G A TCGA-DJ-A13S-01A-11D-A10S-08 TCGA-DJ-A13S-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b564c58-40b0-4d9b-a372-12249a31a765 22668d43-8a18-4cd4-ad8e-ec4e37ce4a38 g.chr5:138643173G>A ENST00000394800.2 + 6 618 c.69G>A c.(67-69)gcG>gcA p.A23A MATR3_ENST00000361059.2_Silent_p.A23A|MATR3_ENST00000509990.1_Silent_p.A23A|MATR3_ENST00000504203.1_Intron|MATR3_ENST00000510056.1_Silent_p.A23A|MATR3_ENST00000503811.1_Intron|MATR3_ENST00000502929.1_Silent_p.A23A|MATR3_ENST00000502499.1_Intron|MATR3_ENST00000394805.3_Silent_p.A23A P43243 MATR3_HUMAN matrin 3 23 nuclear inner membrane|nuclear matrix nucleotide binding|protein binding|RNA binding|structural molecule activity|zinc ion binding breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 29 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) ACCTGTCTGCGGCAGGAATAG 0.478000 64 151 0 0 1 0 0 DNAH3 55567 broad.mit.edu 37 16 21048162 21048162 + Missense_Mutation SNP T T C rs147656718 byFrequency TCGA-DJ-A13S-01A-11D-A10S-08 TCGA-DJ-A13S-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b564c58-40b0-4d9b-a372-12249a31a765 22668d43-8a18-4cd4-ad8e-ec4e37ce4a38 g.chr16:21048162T>C ENST00000261383.3 - 35 4958 c.4959A>G c.(4957-4959)atA>atG p.I1653M DNAH3_ENST00000415178.1_Missense_Mutation_p.I1653M NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 1653 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) ATAAATCAGATATAATTCCCT 0.323000 4 88 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9069489 9069489 + Missense_Mutation SNP G G T TCGA-DJ-A13S-01A-11D-A10S-08 TCGA-DJ-A13S-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b564c58-40b0-4d9b-a372-12249a31a765 22668d43-8a18-4cd4-ad8e-ec4e37ce4a38 g.chr19:9069489G>T ENST00000397910.4 - 3 18160 c.17957C>A c.(17956-17958)gCa>gAa p.A5986E NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 5988 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.A5986E(2)|p.A1619E(1) 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 GAAGCTACTTGCACTTGGTAA 0.483000 100 175 3.07327e-39 3.71354e-39 1 1 0 CEP350 9857 broad.mit.edu 37 1 180010893 180010893 + Nonsense_Mutation SNP G G T TCGA-DJ-A13S-01A-11D-A10S-08 TCGA-DJ-A13S-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b564c58-40b0-4d9b-a372-12249a31a765 22668d43-8a18-4cd4-ad8e-ec4e37ce4a38 g.chr1:180010893G>T ENST00000367607.3 + 19 4736 c.4318G>T c.(4318-4320)Gaa>Taa p.E1440* NM_014810.4 NP_055625.4 Q5VT06 CE350_HUMAN centrosomal protein 350kDa 1440 centrosome|nucleus|spindle central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 66 TCAGCAGTCAGAAACTGCTCG 0.458000 3 31 1 1 1 1 0 XIRP2 129446 broad.mit.edu 37 2 168105213 168105213 + Silent SNP G G A TCGA-DJ-A13S-01A-11D-A10S-08 TCGA-DJ-A13S-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b564c58-40b0-4d9b-a372-12249a31a765 22668d43-8a18-4cd4-ad8e-ec4e37ce4a38 g.chr2:168105213G>A ENST00000409195.1 + 9 7400 c.7311G>A c.(7309-7311)aaG>aaA p.K2437K XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Silent_p.K2215K|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Silent_p.K2437K NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 2262 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 AAGATAATAAGAACGATTTTT 0.403000 47 94 0 0 1 0 0 SH2D6 284948 broad.mit.edu 37 2 85663607 85663607 + Missense_Mutation SNP G G A TCGA-DJ-A13S-01A-11D-A10S-08 TCGA-DJ-A13S-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b564c58-40b0-4d9b-a372-12249a31a765 22668d43-8a18-4cd4-ad8e-ec4e37ce4a38 g.chr2:85663607G>A ENST00000389938.2 + 20 1648 c.334G>A c.(334-336)Gcc>Acc p.A112T SH2D6_ENST00000340326.2_Missense_Mutation_p.A144T|SH2D6_ENST00000481426.2_3'UTR Q7Z4S9 SH2D6_HUMAN SH2 domain containing 6 144 SH2. central_nervous_system(1)|lung(2) 3 CTCCGTGGCGGCCATGGTCCA 0.632000 4 70 0 0 1 0 0 MRPL45P2 0 broad.mit.edu 37 17 45569815 45569815 + RNA SNP A A G rs2610367 by1000genomes TCGA-DJ-A13S-01A-11D-A10S-08 TCGA-DJ-A13S-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b564c58-40b0-4d9b-a372-12249a31a765 22668d43-8a18-4cd4-ad8e-ec4e37ce4a38 g.chr17:45569815A>G ENST00000575291.1 - 0 21 TTGAGGTATGAGGGCTGCCAT 0.602000 6 191 0 0 1 0 0 BOC 91653 broad.mit.edu 37 3 112993298 112993298 + Missense_Mutation SNP C C A TCGA-DJ-A13S-01A-11D-A10S-08 TCGA-DJ-A13S-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b564c58-40b0-4d9b-a372-12249a31a765 22668d43-8a18-4cd4-ad8e-ec4e37ce4a38 g.chr3:112993298C>A ENST00000495514.1 + 9 2015 c.1311C>A c.(1309-1311)aaC>aaA p.N437K BOC_ENST00000355385.3_Missense_Mutation_p.N437K|BOC_ENST00000273395.4_Missense_Mutation_p.N437K Q9BWV1 BOC_HUMAN BOC cell adhesion associated, oncogene regulated 437 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) AACTCGGCAACCCTGAGCAGA 0.632000 14 135 2.61681e-11 2.91875e-11 1 1 0 RP5-896L10.1 0 broad.mit.edu 37 1 99474094 99474094 + RNA DEL A A - rs57656522 TCGA-DJ-A13S-01A-11D-A10S-08 TCGA-DJ-A13S-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b564c58-40b0-4d9b-a372-12249a31a765 22668d43-8a18-4cd4-ad8e-ec4e37ce4a38 g.chr1:99474094delA ENST00000425113.1 + 0 370 NR_033940.1 AACAGCAACTAAAAAAAAAAA 0.353 2 4 --- --- --- --- AC007246.3 0 broad.mit.edu 37 2 39723084 39723085 + RNA INS - - CTTC rs76729915 by1000genomes TCGA-DJ-A13S-01A-11D-A10S-08 TCGA-DJ-A13S-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b564c58-40b0-4d9b-a372-12249a31a765 22668d43-8a18-4cd4-ad8e-ec4e37ce4a38 g.chr2:39723084_39723085insCTTC ENST00000449569.1 + 0 282 AC007246.3_ENST00000443038.1_RNA|AC007246.3_ENST00000422128.1_RNA|AC007246.3_ENST00000426083.1_RNA|AC007246.3_ENST00000446698.1_RNA NR_037875.1 tctttctttttcttccttcctt 0.351 2 4 --- --- --- --- SSPO 23145 broad.mit.edu 37 7 149515189 149515189 + RNA DEL A A - rs112122477 TCGA-DJ-A13S-01A-11D-A10S-08 TCGA-DJ-A13S-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b564c58-40b0-4d9b-a372-12249a31a765 22668d43-8a18-4cd4-ad8e-ec4e37ce4a38 g.chr7:149515189delA ENST00000378016.2 + 0 11577 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) GACCTCGAGTAACTGCCCCAG 0.667 12 8 --- --- --- --- TG 7038 broad.mit.edu 37 8 133905936 133905961 + Splice_Site DEL TCCTGGCTCCTGTGAGGAAGCAAAGC TCCTGGCTCCTGTGAGGAAGCAAAGC - TCGA-DJ-A13S-01A-11D-A10S-08 TCGA-DJ-A13S-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b564c58-40b0-4d9b-a372-12249a31a765 22668d43-8a18-4cd4-ad8e-ec4e37ce4a38 g.chr8:133905936_133905961delTCCTGGCTCCTGTGAGGAAGCAAAGC ENST00000220616.4 + 11 2803_2828 c.2761_splice c.e11-1 p.CPGSCEEAKL921_splice TG_ENST00000377869.1_Splice_Site_p.CPGSCEEAKL921_splice NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 921 Thyroglobulin type-1 7. hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity p.P922T(1) NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) TTCCCCTAGGTCCTGGCTCCTGTGAGGAAGCAAAGCTCCGTGTACT 0.518 21 120 --- --- --- --- CASC2 0 broad.mit.edu 37 10 119812753 119812754 + RNA INS - - TTCC rs139601495 by1000genomes TCGA-DJ-A13S-01A-11D-A10S-08 TCGA-DJ-A13S-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b564c58-40b0-4d9b-a372-12249a31a765 22668d43-8a18-4cd4-ad8e-ec4e37ce4a38 g.chr10:119812753_119812754insTTCC ENST00000435944.1 + 0 452 CASC2_ENST00000454781.1_RNA|CASC2_ENST00000414722.1_RNA|CASC2_ENST00000426021.1_RNA|CASC2_ENST00000454857.1_RNA|CASC2_ENST00000439517.1_RNA NR_026939.1 ttctcctccttttccttccttc 0.500 4 4 --- --- --- --- RP11-428C19.4 0 broad.mit.edu 37 11 19296063 19296064 + RNA DEL AA AA - rs111431546 TCGA-DJ-A13S-01A-11D-A10S-08 TCGA-DJ-A13S-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b564c58-40b0-4d9b-a372-12249a31a765 22668d43-8a18-4cd4-ad8e-ec4e37ce4a38 g.chr11:19296063_19296064delAA ENST00000527978.1 + 0 339 actctgtttcaaaaaaaaaaaa 0.480 2 4 --- --- --- --- SLC5A11 115584 broad.mit.edu 37 16 24921737 24921739 + In_Frame_Del DEL CAG CAG - TCGA-DJ-A13S-01A-11D-A10S-08 TCGA-DJ-A13S-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b564c58-40b0-4d9b-a372-12249a31a765 22668d43-8a18-4cd4-ad8e-ec4e37ce4a38 g.chr16:24921737_24921739delCAG ENST00000347898.3 + 15 2383_2385 c.1761_1763delCAG c.(1759-1764)gcc>gc p.AS587del SLC5A11_ENST00000424767.2_In_Frame_Del_p.AS552del|SLC5A11_ENST00000565769.1_In_Frame_Del_p.AS523del|SLC5A11_ENST00000569071.1_In_Frame_Del_p.AS431del|SLC5A11_ENST00000449109.2_In_Frame_Del_p.AS431del|SLC5A11_ENST00000539472.1_In_Frame_Del_p.AS523del|SLC5A11_ENST00000545376.1_In_Frame_Del_p.AS517del|SLC5A11_ENST00000567758.1_In_Frame_Del_p.AS552del|SLC5A11_ENST00000568579.1_In_Frame_Del_p.AS517del NM_052944.3 NP_443176.2 Q8WWX8 SC5AB_HUMAN solute carrier family 5 (sodium/inositol cotransporter), member 11 587 apoptosis|carbohydrate transport|sodium ion transport integral to membrane|plasma membrane polyol transmembrane transporter activity|symporter activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1) 49 GBM - Glioblastoma multiforme(48;0.0365) TGCCAGAGGCCAGCAGCAGCAGC 0.542 7 142 --- --- --- --- SMURF2P1 0 broad.mit.edu 37 17 28985813 28985814 + RNA INS - - A TCGA-DJ-A13S-01A-11D-A10S-08 TCGA-DJ-A13S-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b564c58-40b0-4d9b-a372-12249a31a765 22668d43-8a18-4cd4-ad8e-ec4e37ce4a38 g.chr17:28985813_28985814insA ENST00000578265.1 + 0 377 aaggaaggaagggctgggcgca 0.535 2 4 --- --- --- --- PWP2 5822 broad.mit.edu 37 21 45540253 45540253 + Frame_Shift_Del DEL G G - TCGA-DJ-A13S-01A-11D-A10S-08 TCGA-DJ-A13S-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b564c58-40b0-4d9b-a372-12249a31a765 22668d43-8a18-4cd4-ad8e-ec4e37ce4a38 g.chr21:45540253delG ENST00000291576.7 + 11 1340 c.1213delG c.(1213-1215)gcfs p.G405fs NM_005049.2 NP_005040.2 Q15269 PWP2_HUMAN PWP2 periodic tryptophan protein homolog (yeast) 405 cytoplasm|nucleolus signal transducer activity cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1) 21 STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2) CACCCTCAGCGGCTTCTGCTT 0.632 51 120 --- --- --- ---