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 SLC3A1 6519 broad.mit.edu 37 2 44527120 44527120 + Missense_Mutation SNP G G A TCGA-EL-A3GX-01A-11D-A202-08 TCGA-EL-A3GX-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx e97b18a0-36d2-43ab-88cf-0e188dbf0cac cc166057-aced-4aaf-80ad-22f9d0414d10 g.chr2:44527120G>A ENST00000260649.6 + 5 978 c.902G>A c.(901-903)cGg>cAg p.R301Q SLC3A1_ENST00000409387.1_Missense_Mutation_p.R301Q|SLC3A1_ENST00000409229.3_Missense_Mutation_p.R301Q|SLC3A1_ENST00000410056.3_Missense_Mutation_p.R301Q|SLC3A1_ENST00000409741.1_Missense_Mutation_p.R301Q|SLC3A1_ENST00000409380.1_Missense_Mutation_p.R23Q NM_000341.3 NP_000332.2 Q07837 SLC31_HUMAN solute carrier family 3 (amino acid transporter heavy chain), member 1 301 carbohydrate metabolic process|cellular amino acid metabolic process|ion transport integral to plasma membrane|membrane fraction basic amino acid transmembrane transporter activity|catalytic activity|cation binding|L-cystine transmembrane transporter activity breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3) 26 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) L-Cystine(DB00138) GAAATTTTACGGTTCTGGCTC 0.363000 24 104 0 0 0.003954 0 0 FETUB 26998 broad.mit.edu 37 3 186370224 186370224 + Missense_Mutation SNP A A G TCGA-EL-A3GX-01A-11D-A202-08 TCGA-EL-A3GX-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx e97b18a0-36d2-43ab-88cf-0e188dbf0cac cc166057-aced-4aaf-80ad-22f9d0414d10 g.chr3:186370224A>G ENST00000265029.3 + 7 1054 c.953A>G c.(952-954)aAg>aGg p.K318R FETUB_ENST00000382136.3_Missense_Mutation_p.K281R|RP11-134F2.2_ENST00000455926.1_RNA|FETUB_ENST00000539949.1_Missense_Mutation_p.K170R|FETUB_ENST00000450521.1_Missense_Mutation_p.K318R|FETUB_ENST00000382134.3_Missense_Mutation_p.K253R|RP11-134F2.2_ENST00000428501.1_RNA NM_014375.2 NP_055190.2 Q9UGM5 FETUB_HUMAN fetuin B 318 extracellular space cysteine-type endopeptidase inhibitor activity endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1) 20 all_cancers(143;6.64e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.73e-20) GBM - Glioblastoma multiforme(93;0.0479) TCCCAGGAAAAGGGCCCTCAG 0.527000 3 194 0 0 0.004672 0 0 SDHAP1 0 broad.mit.edu 37 3 195701327 195701327 + RNA SNP T T C rs148798763 by1000genomes TCGA-EL-A3GX-01A-11D-A202-08 TCGA-EL-A3GX-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx e97b18a0-36d2-43ab-88cf-0e188dbf0cac cc166057-aced-4aaf-80ad-22f9d0414d10 g.chr3:195701327T>C ENST00000427841.1 - 0 1497 NR_003264.2 CCAGGTCCAATAGCGAGTTTG 0.597000 3 130 0 0 0.004672 0 0 SLC39A14 23516 broad.mit.edu 37 8 22275185 22275185 + Missense_Mutation SNP A A T TCGA-EL-A3GX-01A-11D-A202-08 TCGA-EL-A3GX-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx e97b18a0-36d2-43ab-88cf-0e188dbf0cac cc166057-aced-4aaf-80ad-22f9d0414d10 g.chr8:22275185A>T ENST00000381237.1 + 8 1288 c.1169A>T c.(1168-1170)aAc>aTc p.N390I SLC39A14_ENST00000240095.6_Missense_Mutation_p.N390I|SLC39A14_ENST00000289952.5_Missense_Mutation_p.N390I|SLC39A14_ENST00000359741.5_Missense_Mutation_p.N390I NM_001128431.2 NP_001121903.1 Q15043 S39AE_HUMAN solute carrier family 39 (zinc transporter), member 14 390 endoplasmic reticulum|Golgi apparatus|integral to membrane|lamellipodium|plasma membrane zinc ion transmembrane transporter activity NS(1)|endometrium(4)|large_intestine(2)|lung(4)|prostate(1) 12 Colorectal(74;0.019)|COAD - Colon adenocarcinoma(73;0.0731) ATCCTGCTCAACGCTGGGATG 0.547000 61 84 0 0 0.003610 0 0 GPR124 25960 broad.mit.edu 37 8 37698636 37698636 + Missense_Mutation SNP C C T TCGA-EL-A3GX-01A-11D-A202-08 TCGA-EL-A3GX-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx e97b18a0-36d2-43ab-88cf-0e188dbf0cac cc166057-aced-4aaf-80ad-22f9d0414d10 g.chr8:37698636C>T ENST00000315215.7 + 16 2492 c.2129C>T c.(2128-2130)gCc>gTc p.A710V GPR124_ENST00000412232.2_Missense_Mutation_p.A927V Q96PE1 GP124_HUMAN G protein-coupled receptor 124 927 GPS. central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 37 BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10) AGCCTTGGCGCCTTCTACATC 0.627000 5 186 0 0 0.001984 0 0 METTL17 64745 broad.mit.edu 37 14 21465001 21465001 + Missense_Mutation SNP T T C TCGA-EL-A3GX-01A-11D-A202-08 TCGA-EL-A3GX-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx e97b18a0-36d2-43ab-88cf-0e188dbf0cac cc166057-aced-4aaf-80ad-22f9d0414d10 g.chr14:21465001T>C ENST00000382985.4 + 13 1419 c.1396T>C c.(1396-1398)Tcc>Ccc p.S466P METTL17_ENST00000339374.6_Silent_p.T441T|RP11-84C10.4_ENST00000557335.1_RNA|METTL17_ENST00000556670.2_Silent_p.T432T Q9H7H0 MET17_HUMAN methyltransferase like 17 0 translation mitochondrion|ribosome copper ion binding|methyltransferase activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(2) 20 CTGTGCTTACTCCGTCTGCGT 0.527000 3 110 0 0 0.000602 0 0 PRB2 653247 broad.mit.edu 37 12 11546180 11546180 + Missense_Mutation SNP G G C TCGA-EL-A3GX-01A-11D-A202-08 TCGA-EL-A3GX-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx e97b18a0-36d2-43ab-88cf-0e188dbf0cac cc166057-aced-4aaf-80ad-22f9d0414d10 g.chr12:11546180G>C ENST00000389362.4 - 3 867 c.832C>G c.(832-834)Cca>Gca p.P278A PRB1_ENST00000546254.1_Intron NM_006248.3 NP_006239.3 proline-rich protein BstNI subfamily 2 NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1) 37 all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09) OV - Ovarian serous cystadenocarcinoma(49;0.185) CCTGGAGGTGGGGGACCTTGA 0.617000 84 201 0 0 0.003610 0 0 CEACAM5 1048 broad.mit.edu 37 19 42224846 42224846 + Silent SNP G G A TCGA-EL-A3GX-01A-11D-A202-08 TCGA-EL-A3GX-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx e97b18a0-36d2-43ab-88cf-0e188dbf0cac cc166057-aced-4aaf-80ad-22f9d0414d10 g.chr19:42224846G>A ENST00000221992.6 + 8 1890 c.1776G>A c.(1774-1776)ggG>ggA p.G592G CEACAM5_ENST00000398599.4_Silent_p.G591G|CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000405816.1_Silent_p.G592G NM_004363.2 NP_004354.2 P06731 CEAM5_HUMAN carcinoembryonic antigen-related cell adhesion molecule 5 592 Ig-like 6. anchored to membrane|basolateral plasma membrane|integral to plasma membrane breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 34 OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142) TTCCAGATGGGCCGGACACCC 0.557000 98 147 0 0 0.003610 0 0 ANKS1A 23294 broad.mit.edu 37 6 34985340 34985340 + Missense_Mutation SNP G G A TCGA-EL-A3GX-01A-11D-A202-08 TCGA-EL-A3GX-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx e97b18a0-36d2-43ab-88cf-0e188dbf0cac cc166057-aced-4aaf-80ad-22f9d0414d10 g.chr6:34985340G>A ENST00000360359.3 + 11 1652 c.1514G>A c.(1513-1515)gGc>gAc p.G505D ANKS1A_ENST00000535627.1_Intron NM_015245.2 NP_056060.2 Q92625 ANS1A_HUMAN ankyrin repeat and sterile alpha motif domain containing 1A 505 cytoplasm protein binding cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 CTCCTCCACGGCTCCTCCCCG 0.701000 18 38 0 0 0.006122 0 0 LAMC1 3915 broad.mit.edu 37 1 183087214 183087214 + Silent SNP T T C TCGA-EL-A3GX-01A-11D-A202-08 TCGA-EL-A3GX-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx e97b18a0-36d2-43ab-88cf-0e188dbf0cac cc166057-aced-4aaf-80ad-22f9d0414d10 g.chr1:183087214T>C ENST00000258341.4 + 11 2180 c.1923T>C c.(1921-1923)ccT>ccC p.P641P NM_002293.3 NP_002284.3 P11047 LAMC1_HUMAN laminin, gamma 1 (formerly LAMB2) 641 Laminin IV type A. axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex extracellular matrix structural constituent p.P641P(1) NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 76 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CTCTTACCCCTTTTGAATTTC 0.418000 3 101 0 0 0.004672 0 0 MT-ATP6 4508 broad.mit.edu 37 MT 9047 9047 + Missense_Mutation SNP T T C TCGA-EL-A3GX-01A-11D-A202-08 TCGA-EL-A3GX-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx e97b18a0-36d2-43ab-88cf-0e188dbf0cac cc166057-aced-4aaf-80ad-22f9d0414d10 g.chrM:9047T>C ENST00000361899.2 + 1 521 c.521T>C c.(520-522)aTt>aCt p.I174T mitochondrially encoded ATP synthase 6 breast(2)|endometrium(7)|kidney(8)|prostate(1) 18 CATGCACCTAATTGGAAGCGC 0.448000 46 1 0 0 0.003610 0 0 UBA6 55236 broad.mit.edu 37 4 68500218 68500218 + Missense_Mutation SNP C C G TCGA-EL-A3GX-01A-11D-A202-08 TCGA-EL-A3GX-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx e97b18a0-36d2-43ab-88cf-0e188dbf0cac cc166057-aced-4aaf-80ad-22f9d0414d10 g.chr4:68500218C>G ENST00000322244.4 - 21 1920 c.1861G>C c.(1861-1863)Gaa>Caa p.E621Q NM_018227.5 NP_060697.4 A0AVT1 UBA6_HUMAN ubiquitin-like modifier activating enzyme 6 621 protein ubiquitination|ubiquitin-dependent protein catabolic process cytoplasm ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2) 44 AATGGTATTTCCTCTTCTGGG 0.328000 7 47 0 0 0.001984 0 0 MAP7D2 256714 broad.mit.edu 37 X 20029036 20029036 + Missense_Mutation SNP G G A TCGA-EL-A3GX-01A-11D-A202-08 TCGA-EL-A3GX-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx e97b18a0-36d2-43ab-88cf-0e188dbf0cac cc166057-aced-4aaf-80ad-22f9d0414d10 g.chrX:20029036G>A ENST00000379651.3 - 15 2102 c.2084C>T c.(2083-2085)cCc>cTc p.P695L MAP7D2_ENST00000452324.3_Missense_Mutation_p.P643L|MAP7D2_ENST00000443379.3_Missense_Mutation_p.P650L|MAP7D2_ENST00000379643.5_Missense_Mutation_p.P736L|MAP7D2_ENST00000543767.1_Missense_Mutation_p.P580L NM_152780.3 NP_689993.2 Q96T17 MA7D2_HUMAN MAP7 domain containing 2 695 NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 37 GAATGTCGGGGGACCAGTGAA 0.463000 53 84 0 0 0.003610 0 0 URI1 8725 broad.mit.edu 37 19 30477203 30477203 + Silent SNP T T C TCGA-EL-A3GX-01A-11D-A202-08 TCGA-EL-A3GX-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx e97b18a0-36d2-43ab-88cf-0e188dbf0cac cc166057-aced-4aaf-80ad-22f9d0414d10 g.chr19:30477203T>C ENST00000392271.1 + 4 543 c.18T>C c.(16-18)ccT>ccC p.P6P URI1_ENST00000312051.6_Silent_p.P42P|URI1_ENST00000360605.4_Silent_p.P64P|URI1_ENST00000542441.2_Silent_p.P82P NM_003796.3 NP_003787.2 O94763 RMP_HUMAN URI1, prefoldin-like chaperone 82 protein folding|regulation of transcription from RNA polymerase II promoter|response to virus DNA-directed RNA polymerase II, core complex|prefoldin complex transcription corepressor activity|unfolded protein binding p.P82P(1) CATTTGGCCCTTTTGCCTTCA 0.363000 3 96 0 0 0.004672 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-EL-A3GX-01A-11D-A202-08 TCGA-EL-A3GX-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx e97b18a0-36d2-43ab-88cf-0e188dbf0cac cc166057-aced-4aaf-80ad-22f9d0414d10 g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 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(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(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 30 44 0 0 0.002096 0 0 POMC 5443 broad.mit.edu 37 2 25384456 25384457 + In_Frame_Ins INS - - GCCGCTGCT rs10654394 byFrequency TCGA-EL-A3GX-01A-11D-A202-08 TCGA-EL-A3GX-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx e97b18a0-36d2-43ab-88cf-0e188dbf0cac cc166057-aced-4aaf-80ad-22f9d0414d10 g.chr2:25384456_25384457insGCCGCTGCT ENST00000405623.1 - 3 752_753 c.297_298insAGCAGCGGC c.(295-300)ggcagg>ggAGCAGCGGCcagg p.99_100GR>GAAAR POMC_ENST00000395826.2_In_Frame_Ins_p.99_100GR>GAAAR|POMC_ENST00000264708.3_In_Frame_Ins_p.99_100GR>GAAAR|POMC_ENST00000380794.1_In_Frame_Ins_p.99_100GR>GAAAR P01189 COLI_HUMAN proopiomelanocortin 99 Missing. cell-cell signaling|cellular nitrogen compound metabolic process|cellular pigmentation|generation of precursor metabolites and energy|hormone biosynthetic process|negative regulation of tumor necrosis factor production|neuropeptide signaling pathway|peptide hormone processing|positive regulation of transcription from RNA polymerase II promoter|regulation of appetite|regulation of blood pressure extracellular space|stored secretory granule hormone activity|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1) 12 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Hydrocortisone(DB00741)|Loperamide(DB00836)|Trilostane(DB01108) TTCTGCCCTGCgccgctgctgc 0.728 6 9 --- --- --- --- AC074391.1 0 broad.mit.edu 37 2 65738847 65738847 + RNA DEL T T - rs111377658 TCGA-EL-A3GX-01A-11D-A202-08 TCGA-EL-A3GX-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx e97b18a0-36d2-43ab-88cf-0e188dbf0cac cc166057-aced-4aaf-80ad-22f9d0414d10 g.chr2:65738847delT ENST00000377977.3 + 0 862 ttttTTGAAATTTTTTTTTTT 0.294 2 4 --- --- --- --- PHACTR2 9749 broad.mit.edu 37 6 144081695 144081696 + Frame_Shift_Ins INS - - A TCGA-EL-A3GX-01A-11D-A202-08 TCGA-EL-A3GX-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx e97b18a0-36d2-43ab-88cf-0e188dbf0cac cc166057-aced-4aaf-80ad-22f9d0414d10 g.chr6:144081695_144081696insA ENST00000427704.2 + 5 709_710 c.579_580insA c.(577-582)ataaaafs p.IK193fs PHACTR2_ENST00000367584.4_Intron|PHACTR2_ENST00000440869.2_Frame_Shift_Ins_p.IK204fs|PHACTR2_ENST00000367582.3_Intron|PHACTR2_ENST00000305766.6_Intron NM_001100166.1|NM_014721.2 NP_001093636.1|NP_055536.2 O75167 PHAR2_HUMAN phosphatase and actin regulator 2 193 actin binding|protein phosphatase inhibitor activity NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 30 OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386) TGCCTCCCATTAAAAAAAATAC 0.569 7 102 --- --- --- --- ZNF658 26149 broad.mit.edu 37 9 40789482 40789483 + Splice_Site INS - - A TCGA-EL-A3GX-01A-11D-A202-08 TCGA-EL-A3GX-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx e97b18a0-36d2-43ab-88cf-0e188dbf0cac cc166057-aced-4aaf-80ad-22f9d0414d10 g.chr9:40789482_40789483insA ENST00000602553.1 - 2 94 c.e2-2 ZNF658_ENST00000441795.1_Splice_Site|ZNF658_ENST00000377626.3_Intron Q5TYW1 ZN658_HUMAN zinc finger protein 658 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 46 GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681) TTCATGTGCCTAAAAAAAAAAA 0.426 4 8 --- --- --- --- TPTE2P6 0 broad.mit.edu 37 13 25157747 25157748 + RNA INS - - T rs144668552 by1000genomes TCGA-EL-A3GX-01A-11D-A202-08 TCGA-EL-A3GX-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx e97b18a0-36d2-43ab-88cf-0e188dbf0cac cc166057-aced-4aaf-80ad-22f9d0414d10 g.chr13:25157747_25157748insT ENST00000453498.1 + 0 554 AAAATGGGAGGTTTTTTTAGGG 0.411 4 9 --- --- --- --- PNMAL2 57469 broad.mit.edu 37 19 46997016 46997017 + In_Frame_Ins INS - - CGGCCT rs147338403 by1000genomes TCGA-EL-A3GX-01A-11D-A202-08 TCGA-EL-A3GX-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx e97b18a0-36d2-43ab-88cf-0e188dbf0cac cc166057-aced-4aaf-80ad-22f9d0414d10 g.chr19:46997016_46997017insCGGCCT ENST00000599531.1 - 1 2738_2739 c.1706_1707insAGGCCG c.(1705-1707)cgg>cAGGCCGgg p.569_569R>QAG PNMAL2_ENST00000594749.1_Intron|PNMAL2_ENST00000377655.2_Intron NM_020709.1 NP_065760.1 Q9ULN7 PNML2_HUMAN paraneoplastic Ma antigen family-like 2 571 central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4) 8 Ovarian(192;0.00965)|all_neural(266;0.0459) OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427) GAGTGACGCCCCGGCCTCGGCC 0.777 3 5 --- --- --- --- RNF215 200312 broad.mit.edu 37 22 30782087 30782089 + In_Frame_Del DEL AGA AGA - rs5997629 byFrequency TCGA-EL-A3GX-01A-11D-A202-08 TCGA-EL-A3GX-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx e97b18a0-36d2-43ab-88cf-0e188dbf0cac cc166057-aced-4aaf-80ad-22f9d0414d10 g.chr22:30782087_30782089delAGA ENST00000382363.3 - 3 545_547 c.471_473delTCT c.(469-474)ctc>ct p.LL157del NM_001017981.1 NP_001017981.1 Q9Y6U7 RN215_HUMAN ring finger protein 215 157 integral to membrane zinc ion binding central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2) 6 GTTCAGGATGAGAAGAAGCAGGG 0.606 10 12 --- --- --- ---