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 AC008103.5 0 broad.mit.edu 37 22 18844763 18844763 + RNA SNP T T C TCGA-EL-A3TA-01A-12D-A22D-08 TCGA-EL-A3TA-11A-12D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 895d7cda-8b78-4665-a65f-2f9cb3bd44d7 888f0871-a5ca-412f-a605-07ca39f97ff2 g.chr22:18844763T>C ENST00000412938.1 + 0 3013 TCACAGCCTCTGAGGGCAGCA 0.562000 2 12 0 0 1 0 0 ACKR6 0 broad.mit.edu 37 17 6367996 6367996 + Missense_Mutation SNP C C T TCGA-EL-A3TA-01A-12D-A22D-08 TCGA-EL-A3TA-11A-12D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 895d7cda-8b78-4665-a65f-2f9cb3bd44d7 888f0871-a5ca-412f-a605-07ca39f97ff2 g.chr17:6367996C>T ENST00000262483.8 - 15 2073 c.1986G>A c.(1984-1986)atG>atA p.M662I ACKR6_ENST00000421306.3_Missense_Mutation_p.M626I|ACKR6_ENST00000576664.1_5'UTR NM_031220.3 NP_112497.2 TCAGAGCCACCATGTCGAGGG 0.622000 8 28 0 0 1 0 0 P2RY10 0 broad.mit.edu 37 X 78216608 78216608 + Silent SNP G G T TCGA-EL-A3TA-01A-12D-A22D-08 TCGA-EL-A3TA-11A-12D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 895d7cda-8b78-4665-a65f-2f9cb3bd44d7 888f0871-a5ca-412f-a605-07ca39f97ff2 g.chrX:78216608G>T ENST00000171757.2 + 4 871 c.591G>T c.(589-591)ggG>ggT p.G197G P2RY10_ENST00000544091.1_Silent_p.G197G NM_014499.2 NP_055314.1 O00398 P2Y10_HUMAN purinergic receptor P2Y, G-protein coupled, 10 197 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2) 42 CGTTGGTCGGGATGATTACAG 0.453000 3 43 1 1 1 1 0 TSSC2 0 broad.mit.edu 37 11 3427765 3427765 + RNA SNP G G C TCGA-EL-A3TA-01A-12D-A22D-08 TCGA-EL-A3TA-11A-12D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 895d7cda-8b78-4665-a65f-2f9cb3bd44d7 888f0871-a5ca-412f-a605-07ca39f97ff2 g.chr11:3427765G>C ENST00000529482.1 + 0 882 CACACGTCCTGCAGTGGCCTG 0.602000 4 74 0 0 1 0 0 FLRT2 23768 broad.mit.edu 37 14 86089600 86089600 + Missense_Mutation SNP G G A TCGA-EL-A3TA-01A-12D-A22D-08 TCGA-EL-A3TA-11A-12D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 895d7cda-8b78-4665-a65f-2f9cb3bd44d7 888f0871-a5ca-412f-a605-07ca39f97ff2 g.chr14:86089600G>A ENST00000330753.4 + 2 2509 c.1742G>A c.(1741-1743)cGg>cAg p.R581Q FLRT2_ENST00000554746.1_Missense_Mutation_p.R581Q NM_013231.4 NP_037363.1 O43155 FLRT2_HUMAN fibronectin leucine rich transmembrane protein 2 581 cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 73 BRCA - Breast invasive adenocarcinoma(234;0.0319) AAATACAACCGGGGCCGGCGG 0.517000 4 118 0 0 1 0 0 CEP290 80184 broad.mit.edu 37 12 88486541 88486541 + Silent SNP C C T TCGA-EL-A3TA-01A-12D-A22D-08 TCGA-EL-A3TA-11A-12D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 895d7cda-8b78-4665-a65f-2f9cb3bd44d7 888f0871-a5ca-412f-a605-07ca39f97ff2 g.chr12:88486541C>T ENST00000552810.1 - 29 3721 c.3378G>A c.(3376-3378)gtG>gtA p.V1126V CEP290_ENST00000547691.2_Silent_p.V186V|CEP290_ENST00000309041.7_Silent_p.V1128V|CEP290_ENST00000397838.3_Silent_p.V186V NM_025114.3 NP_079390.3 O15078 CE290_HUMAN centrosomal protein 290kDa 1126 cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium protein binding breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 73 CTGCCTTGCTCACACTATCAG 0.358000 3 94 0 0 1 0 0 DCDC2 51473 broad.mit.edu 37 6 24357867 24357867 + Missense_Mutation SNP C C T TCGA-EL-A3TA-01A-12D-A22D-08 TCGA-EL-A3TA-11A-12D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 895d7cda-8b78-4665-a65f-2f9cb3bd44d7 888f0871-a5ca-412f-a605-07ca39f97ff2 g.chr6:24357867C>T ENST00000378454.3 - 1 413 c.112G>A c.(112-114)Gag>Aag p.E38K KAAG1_ENST00000274766.1_5'UTR NM_001195610.1|NM_016356.3 NP_001182539.1|NP_057440.2 Q9UHG0 DCDC2_HUMAN doublecortin domain containing 2 38 Doublecortin 1. cellular defense response|intracellular signal transduction|neuron migration breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 Ovarian(999;0.101) ACCTTCTTCTCATGGATGACG 0.642000 10 43 0 0 1 0 0 PKNOX1 5316 broad.mit.edu 37 21 44437073 44437073 + Missense_Mutation SNP C C A TCGA-EL-A3TA-01A-12D-A22D-08 TCGA-EL-A3TA-11A-12D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 895d7cda-8b78-4665-a65f-2f9cb3bd44d7 888f0871-a5ca-412f-a605-07ca39f97ff2 g.chr21:44437073C>A ENST00000291547.5 + 6 789 c.578C>A c.(577-579)gCg>gAg p.A193E PKNOX1_ENST00000432907.2_Missense_Mutation_p.A76E NM_004571.3 NP_004562.2 P55347 PKNX1_HUMAN PBX/knotted 1 homeobox 1 193 sequence-specific DNA binding cervix(3)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|prostate(1) 22 GTGGTGCCGGCGTCCGCGCTG 0.512000 3 53 0.115264 0.122468 1 1 0 RP11-417J8.6 0 broad.mit.edu 37 1 142713152 142713152 + RNA SNP T T G rs142135372 by1000genomes TCGA-EL-A3TA-01A-12D-A22D-08 TCGA-EL-A3TA-11A-12D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 895d7cda-8b78-4665-a65f-2f9cb3bd44d7 888f0871-a5ca-412f-a605-07ca39f97ff2 g.chr1:142713152T>G ENST00000369381.2 - 0 1453 TGCTGTTCAATGCACGGATTT 0.368000 3 46 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-EL-A3TA-01A-12D-A22D-08 TCGA-EL-A3TA-11A-12D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 895d7cda-8b78-4665-a65f-2f9cb3bd44d7 888f0871-a5ca-412f-a605-07ca39f97ff2 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 10 36 0 0 1 0 0 PAK3 5063 broad.mit.edu 37 X 110385387 110385387 + Missense_Mutation SNP T T G TCGA-EL-A3TA-01A-12D-A22D-08 TCGA-EL-A3TA-11A-12D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 895d7cda-8b78-4665-a65f-2f9cb3bd44d7 888f0871-a5ca-412f-a605-07ca39f97ff2 g.chrX:110385387T>G ENST00000519681.1 + 6 681 c.239T>G c.(238-240)aTt>aGt p.I80S PAK3_ENST00000446737.1_Missense_Mutation_p.I80S|PAK3_ENST00000425146.1_Missense_Mutation_p.I80S|PAK3_ENST00000372007.4_Missense_Mutation_p.I80S|PAK3_ENST00000372010.1_Missense_Mutation_p.I80S|PAK3_ENST00000417227.1_Missense_Mutation_p.I80S|PAK3_ENST00000262836.4_Missense_Mutation_p.I80S|PAK3_ENST00000360648.4_Missense_Mutation_p.I80S|PAK3_ENST00000518291.1_Missense_Mutation_p.I80S O75914 PAK3_HUMAN p21 protein (Cdc42/Rac)-activated kinase 3 80 Autoregulatory region (By similarity).|CRIB.|GTPase-binding (By similarity). multicellular organismal development ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 41 GAGCATACGATTCATGTGGGG 0.398000 TSP Lung(19;0.15) 3 64 0 0 1 0 0 ZSCAN18 65982 broad.mit.edu 37 19 58596319 58596319 + Silent SNP G G A TCGA-EL-A3TA-01A-12D-A22D-08 TCGA-EL-A3TA-11A-12D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 895d7cda-8b78-4665-a65f-2f9cb3bd44d7 888f0871-a5ca-412f-a605-07ca39f97ff2 g.chr19:58596319G>A ENST00000240727.6 - 7 1665 c.1266C>T c.(1264-1266)ttC>ttT p.F422F ZSCAN18_ENST00000601144.1_Silent_p.F422F|ZSCAN18_ENST00000421612.2_Silent_p.F286F|ZSCAN18_ENST00000600404.1_Silent_p.F478F NM_023926.4 NP_076415.3 Q8TBC5 ZSC18_HUMAN zinc finger and SCAN domain containing 18 422 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3) 19 Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152) AGAGCCACGCGAAGGCCTCCC 0.716000 3 8 0 0 1 0 0 WASH3P 0 broad.mit.edu 37 15 102515299 102515299 + RNA SNP G G A TCGA-EL-A3TA-01A-12D-A22D-08 TCGA-EL-A3TA-11A-12D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 895d7cda-8b78-4665-a65f-2f9cb3bd44d7 888f0871-a5ca-412f-a605-07ca39f97ff2 g.chr15:102515299G>A ENST00000557932.1 + 0 1145 p.G374S(10) central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1) 25 TGGGGGCATCGGCAAGGCCAA 0.652000 3 29 0 0 1 0 0 PCSK9 255738 broad.mit.edu 37 1 55505553 55505555 + In_Frame_Del DEL CTG CTG - rs67610340 TCGA-EL-A3TA-01A-12D-A22D-08 TCGA-EL-A3TA-11A-12D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 895d7cda-8b78-4665-a65f-2f9cb3bd44d7 888f0871-a5ca-412f-a605-07ca39f97ff2 g.chr1:55505553_55505555delCTG ENST00000302118.5 + 1 333_335 c.43_45delCTG c.(43-45)del p.L23del PCSK9_ENST00000452118.2_In_Frame_Del_p.L23del NM_174936.3 NP_777596.2 Q8NBP7 PCSK9_HUMAN proprotein convertase subtilisin/kexin type 9 23 L -> LL (this polymoprhism seems to have a modifier effect on LDLR mutation and familial hypercholesterolemia). cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity extracellular space|late endosome|lysosome|perinuclear region of cytoplasm apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding p.P14_L15insL(2) NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1) 32 gccgctgccactgctgctgctgc 0.709 2 4 --- --- --- --- SSPO 23145 broad.mit.edu 37 7 149501110 149501110 + RNA DEL G G - TCGA-EL-A3TA-01A-12D-A22D-08 TCGA-EL-A3TA-11A-12D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 895d7cda-8b78-4665-a65f-2f9cb3bd44d7 888f0871-a5ca-412f-a605-07ca39f97ff2 g.chr7:149501110delG ENST00000378016.2 + 0 8246 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) CCGGCAGCCTGGGGGGGTGCC 0.667 2 4 --- --- --- --- PTGDR2 11251 broad.mit.edu 37 11 60620167 60620169 + In_Frame_Del DEL GCG GCG - TCGA-EL-A3TA-01A-12D-A22D-08 TCGA-EL-A3TA-11A-12D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 895d7cda-8b78-4665-a65f-2f9cb3bd44d7 888f0871-a5ca-412f-a605-07ca39f97ff2 g.chr11:60620167_60620169delGCG ENST00000332539.4 - 2 1138_1140 c.1027_1029delCGC c.(1027-1029)del p.R343del NM_004778.2 NP_004769.2 Q9Y5Y4 GPR44_HUMAN prostaglandin D2 receptor 2 343 immune response integral to plasma membrane N-formyl peptide receptor activity TGGAGGAGGTGCGGCGGCGGCGG 0.749 2 4 --- --- --- --- ABCC4 10257 broad.mit.edu 37 13 95696016 95696016 + Frame_Shift_Del DEL T T - TCGA-EL-A3TA-01A-12D-A22D-08 TCGA-EL-A3TA-11A-12D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 895d7cda-8b78-4665-a65f-2f9cb3bd44d7 888f0871-a5ca-412f-a605-07ca39f97ff2 g.chr13:95696016delT ENST00000376887.4 - 29 3769 c.3655delA c.(3655-3657)tcfs p.I1219fs ABCC4_ENST00000412704.1_Frame_Shift_Del_p.I1172fs NM_005845.3 NP_005836.2 O15439 MRP4_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 4 1219 ABC transporter 2. platelet activation|platelet degranulation integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane 15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 43 all_neural(89;0.0878)|Medulloblastoma(90;0.163) Cefazolin(DB01327) TTCTCCCGGATTTTTTTTTGT 0.378 7 111 --- --- --- --- NIPA1 123606 broad.mit.edu 37 15 23086365 23086367 + In_Frame_Del DEL GCC GCC - TCGA-EL-A3TA-01A-12D-A22D-08 TCGA-EL-A3TA-11A-12D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 895d7cda-8b78-4665-a65f-2f9cb3bd44d7 888f0871-a5ca-412f-a605-07ca39f97ff2 g.chr15:23086365_23086367delGCC ENST00000337435.4 - 1 69_71 c.45_47delGGC c.(43-48)gcc>gc p.AA15del NIPA1_ENST00000561183.1_Intron|NIPA1_ENST00000437912.2_Intron NM_001142275.1|NM_144599.4 NP_001135747.1|NP_653200.2 Q7RTP0 NIPA1_HUMAN non imprinted in Prader-Willi/Angelman syndrome 1 15 cell death early endosome|integral to membrane|plasma membrane endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|skin(1) 15 all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488) all cancers(64;4.18e-06)|Epithelial(43;3.97e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00165) CCCCTCCCCGgccgccgccgccg 0.818 3 3 --- --- --- --- C16orf62 57020 broad.mit.edu 37 16 19580800 19580802 + In_Frame_Del DEL TCC TCC - TCGA-EL-A3TA-01A-12D-A22D-08 TCGA-EL-A3TA-11A-12D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 895d7cda-8b78-4665-a65f-2f9cb3bd44d7 888f0871-a5ca-412f-a605-07ca39f97ff2 g.chr16:19580800_19580802delTCC ENST00000438132.3 + 3 487_489 c.439_441delTCC c.(439-441)del p.S153del C16orf62_ENST00000538853.1_In_Frame_Del_p.S153del|C16orf62_ENST00000542263.1_In_Frame_Del_p.S153del|C16orf62_ENST00000417362.2_In_Frame_Del_p.S64del|C16orf62_ENST00000251143.5_In_Frame_Del_p.S64del NM_020314.5 NP_064710.4 Q7Z3J2 CP062_HUMAN chromosome 16 open reading frame 62 64 integral to membrane breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 36 TTCTTCCACGTCCTCCTCCTCCT 0.562 9 87 --- --- --- --- AMMECR1 9949 broad.mit.edu 37 X 109561058 109561060 + In_Frame_Del DEL CCG CCG - TCGA-EL-A3TA-01A-12D-A22D-08 TCGA-EL-A3TA-11A-12D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 895d7cda-8b78-4665-a65f-2f9cb3bd44d7 888f0871-a5ca-412f-a605-07ca39f97ff2 g.chrX:109561058_109561060delCCG ENST00000262844.5 - 1 407_409 c.240_242delCGG c.(238-243)ggg>gg p.GG80del AMMECR1_ENST00000372057.1_5'UTR|AMMECR1_ENST00000372059.2_In_Frame_Del_p.GG80del NM_015365.2 NP_056180.1 Q9Y4X0 AMER1_HUMAN Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1 80 Gly/Ser-rich. large_intestine(1)|lung(4)|ovary(1)|stomach(1) 7 GGCGATCCCCCCGCCGCCGCCGC 0.734 2 4 --- --- --- ---