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 TXNDC2 84203 broad.mit.edu 37 18 9886961 9886961 + Missense_Mutation SNP G G A TCGA-QR-A70K-01A-12D-A35D-08 TCGA-QR-A70K-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b364e89-dcc0-4745-bbdb-815f52c81377 cb60fb86-b526-4433-8244-3174f160d475 g.chr18:9886961G>A ENST00000306084.6 + 2 684 c.485G>A c.(484-486)gGc>gAc p.G162D TXNDC2_ENST00000357775.4_Missense_Mutation_p.G95D|TXNDC2_ENST00000536353.2_Missense_Mutation_p.G95D NM_001098529.1 NP_001091999.1 Q86VQ3 TXND2_HUMAN thioredoxin domain containing 2 (spermatozoa) 162 22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I. cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis cytoplasm electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1) 31 CCCAAGCTGGGCAATATTCCC 0.562000 4 141 0 0 1 0 0 SIMC1 375484 broad.mit.edu 37 5 175764121 175764121 + Silent SNP G G C TCGA-QR-A70K-01A-12D-A35D-08 TCGA-QR-A70K-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b364e89-dcc0-4745-bbdb-815f52c81377 cb60fb86-b526-4433-8244-3174f160d475 g.chr5:175764121G>C ENST00000443967.1 + 11 2735 c.2328G>C c.(2326-2328)ctG>ctC p.L776L SIMC1_ENST00000430704.2_Silent_p.L361L|SIMC1_ENST00000332772.4_Silent_p.L237L|SIMC1_ENST00000341199.6_Silent_p.L361L SUMO-interacting motifs containing 1 TGCAGTTTCTGCTGTCCAGTT 0.408000 17 90 0 0 1 0 0 AFAP1L2 84632 broad.mit.edu 37 10 116062114 116062114 + Missense_Mutation SNP C C T TCGA-QR-A70K-01A-12D-A35D-08 TCGA-QR-A70K-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b364e89-dcc0-4745-bbdb-815f52c81377 cb60fb86-b526-4433-8244-3174f160d475 g.chr10:116062114C>T ENST00000369271.3 - 12 1714 c.1414G>A c.(1414-1416)Gcc>Acc p.A472T AFAP1L2_ENST00000545353.1_Missense_Mutation_p.A525T|AFAP1L2_ENST00000304129.4_Missense_Mutation_p.A472T NM_001001936.1|NM_032550.2 NP_001001936.1|NP_115939.1 Q8N4X5 AF1L2_HUMAN actin filament associated protein 1-like 2 472 inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle cytoplasm protein tyrosine kinase activator activity|SH2 domain binding|SH3 domain binding p.A472T(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2) 21 Colorectal(252;0.175)|Breast(234;0.231) Epithelial(162;0.0219)|all cancers(201;0.0561) GAGTTTTTGGCCGCACTCACA 0.547000 5 159 0 0 1 0 0 SNX19 399979 broad.mit.edu 37 11 130785052 130785052 + Missense_Mutation SNP G G C TCGA-QR-A70K-01A-12D-A35D-08 TCGA-QR-A70K-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b364e89-dcc0-4745-bbdb-815f52c81377 cb60fb86-b526-4433-8244-3174f160d475 g.chr11:130785052G>C ENST00000265909.4 - 1 1352 c.783C>G c.(781-783)caC>caG p.H261Q SNX19_ENST00000539184.1_Intron|SNX19_ENST00000533214.1_Missense_Mutation_p.H261Q|SNX19_ENST00000533318.1_Intron|SNX19_ENST00000530356.1_Intron|SNX19_ENST00000528555.1_Intron NM_014758.2 NP_055573.2 Q92543 SNX19_HUMAN sorting nexin 19 261 PXA. cell communication|protein transport cytoplasmic vesicle membrane phosphatidylinositol binding|protein binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1) 35 all_hematologic(175;0.0597) Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425) OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233) CGAGTACAAGGTGGATCCAGT 0.547000 19 75 0 0 1 0 0 CD96 10225 broad.mit.edu 37 3 111263944 111263944 + Missense_Mutation SNP G G A TCGA-QR-A70K-01A-12D-A35D-08 TCGA-QR-A70K-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b364e89-dcc0-4745-bbdb-815f52c81377 cb60fb86-b526-4433-8244-3174f160d475 g.chr3:111263944G>A ENST00000352690.4 + 2 353 c.113G>A c.(112-114)gGc>gAc p.G38D CD96_ENST00000438817.2_Missense_Mutation_p.G38D|CD96_ENST00000283285.5_Missense_Mutation_p.G38D NM_005816.4 NP_005807.1 P40200 TACT_HUMAN CD96 molecule 38 Ig-like V-type 1. cell adhesion|immune response|regulation of immune response integral to plasma membrane central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5) 35 GCTACACTTGGCTCTGATGTC 0.403000 Opitz Trigonocephaly syndrome 4 114 0 0 1 0 0 VPS13C 54832 broad.mit.edu 37 15 62253881 62253881 + Missense_Mutation SNP T T C TCGA-QR-A70K-01A-12D-A35D-08 TCGA-QR-A70K-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b364e89-dcc0-4745-bbdb-815f52c81377 cb60fb86-b526-4433-8244-3174f160d475 g.chr15:62253881T>C ENST00000261517.5 - 35 3888 c.3815A>G c.(3814-3816)cAt>cGt p.H1272R VPS13C_ENST00000249837.3_Missense_Mutation_p.H1229R|VPS13C_ENST00000395896.4_Missense_Mutation_p.H1272R|VPS13C_ENST00000395898.3_Missense_Mutation_p.H1229R NM_020821.2 NP_065872.1 Q709C8 VP13C_HUMAN vacuolar protein sorting 13 homolog C (S. cerevisiae) 1272 protein localization NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 GAACTGATTATGAACTCTGAT 0.383000 35 63 0 0 1 0 0 CPA4 51200 broad.mit.edu 37 7 129948219 129948219 + Missense_Mutation SNP T T G TCGA-QR-A70K-01A-12D-A35D-08 TCGA-QR-A70K-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b364e89-dcc0-4745-bbdb-815f52c81377 cb60fb86-b526-4433-8244-3174f160d475 g.chr7:129948219T>G ENST00000222482.4 + 8 803 c.775T>G c.(775-777)Tgg>Ggg p.W259G CPA4_ENST00000493259.1_Missense_Mutation_p.W155G|CPA4_ENST00000445470.2_Missense_Mutation_p.W226G NM_016352.3 NP_057436.2 Q9UI42 CBPA4_HUMAN carboxypeptidase A4 259 histone acetylation|proteolysis extracellular region metallocarboxypeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 Melanoma(18;0.0435) AAATAGAAACTGGAACGCTAG 0.562000 5 50 0 0 1 0 0 GUCY1A3 2982 broad.mit.edu 37 4 156632137 156632137 + Missense_Mutation SNP T T C TCGA-QR-A70K-01A-12D-A35D-08 TCGA-QR-A70K-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b364e89-dcc0-4745-bbdb-815f52c81377 cb60fb86-b526-4433-8244-3174f160d475 g.chr4:156632137T>C ENST00000296518.7 + 6 1029 c.820T>C c.(820-822)Tcg>Ccg p.S274P GUCY1A3_ENST00000506455.1_Missense_Mutation_p.S274P|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.S274P|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.S274P|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.S274P|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.S274P|GUCY1A3_ENST00000393832.3_Missense_Mutation_p.S16P Q02108 GCYA3_HUMAN guanylate cyclase 1, soluble, alpha 3 274 blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation guanylate cyclase complex, soluble GTP binding|guanylate cyclase activity|heme binding|receptor activity central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.17) ACCCCAGTCCTCGCTGGTGAT 0.458000 4 77 0 0 1 0 0 JOSD1 9929 broad.mit.edu 37 22 39085109 39085109 + Missense_Mutation SNP T T C TCGA-QR-A70K-01A-12D-A35D-08 TCGA-QR-A70K-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b364e89-dcc0-4745-bbdb-815f52c81377 cb60fb86-b526-4433-8244-3174f160d475 g.chr22:39085109T>C ENST00000216039.5 - 3 1019 c.340A>G c.(340-342)Aac>Gac p.N114D NM_014876.5 NP_055691.1 Q15040 JOS1_HUMAN Josephin domain containing 1 114 Josephin. peptidase activity large_intestine(1)|lung(1)|ovary(2)|pancreas(1) 5 Melanoma(58;0.04) CCCATGACGTTAGTGAGGGCA 0.552000 7 15 0 0 1 0 0 AOC3 8639 broad.mit.edu 37 17 41003755 41003755 + Missense_Mutation SNP G G A TCGA-QR-A70K-01A-12D-A35D-08 TCGA-QR-A70K-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b364e89-dcc0-4745-bbdb-815f52c81377 cb60fb86-b526-4433-8244-3174f160d475 g.chr17:41003755G>A ENST00000308423.2 + 1 555 c.395G>A c.(394-396)aGg>aAg p.R132K NM_003734.2 NP_003725.1 Q16853 AOC3_HUMAN amine oxidase, copper containing 3 132 amine metabolic process|cell adhesion|inflammatory response cell surface|integral to membrane|plasma membrane aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8) 41 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.156) Hydralazine(DB01275)|Phenelzine(DB00780) TTCTTTGGCAGGCAACCCCAG 0.677000 7 31 0 0 1 0 0 DPPA2 151871 broad.mit.edu 37 3 109027103 109027103 + Missense_Mutation SNP C C T TCGA-QR-A70K-01A-12D-A35D-08 TCGA-QR-A70K-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b364e89-dcc0-4745-bbdb-815f52c81377 cb60fb86-b526-4433-8244-3174f160d475 g.chr3:109027103C>T ENST00000478945.1 - 6 680 c.434G>A c.(433-435)cGa>cAa p.R145Q NM_138815.3 NP_620170.3 Q7Z7J5 DPPA2_HUMAN developmental pluripotency associated 2 145 nucleus nucleic acid binding breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 CCTCGAACATCGCTGTAATCT 0.438000 5 56 0 0 1 0 0 TPO 7173 broad.mit.edu 37 2 1418187 1418187 + Missense_Mutation SNP G G A TCGA-QR-A70K-01A-12D-A35D-08 TCGA-QR-A70K-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b364e89-dcc0-4745-bbdb-815f52c81377 cb60fb86-b526-4433-8244-3174f160d475 g.chr2:1418187G>A ENST00000345913.4 + 2 98 c.7G>A c.(7-9)Gcg>Acg p.A3T TPO_ENST00000382269.3_Missense_Mutation_p.A3T|TPO_ENST00000346956.3_Missense_Mutation_p.A3T|TPO_ENST00000349624.3_Missense_Mutation_p.A3T|TPO_ENST00000382198.1_Missense_Mutation_p.A3T|TPO_ENST00000497517.2_Intron|TPO_ENST00000329066.4_Missense_Mutation_p.A3T|TPO_ENST00000539820.1_Missense_Mutation_p.A3T|TPO_ENST00000337415.3_Missense_Mutation_p.A3T|TPO_ENST00000382201.3_Missense_Mutation_p.A3T NM_000547.5 NP_000538.3 P07202 PERT_HUMAN thyroid peroxidase 3 cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process cell surface|cytoplasm|integral to plasma membrane calcium ion binding|heme binding|iodide peroxidase activity breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12) Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550) TAGAATGAGAGCGCTCGCTGT 0.522000 11 25 0 0 1 0 0 MLLT6 4302 broad.mit.edu 37 17 36881820 36881820 + Missense_Mutation SNP A A G rs145698748 TCGA-QR-A70K-01A-12D-A35D-08 TCGA-QR-A70K-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b364e89-dcc0-4745-bbdb-815f52c81377 cb60fb86-b526-4433-8244-3174f160d475 g.chr17:36881820A>G ENST00000325718.7 + 20 3342 c.3251A>G c.(3250-3252)aAa>aGa p.K1084R NM_005937.3 NP_005928.2 P55198 AF17_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6 1084 regulation of transcription, DNA-dependent nucleus protein binding|zinc ion binding breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 8 Breast(7;4.43e-21) ACCGCTGACAAAGGAGCCTCA 0.582000 T MLL AL 4 26 0 0 1 0 0 RTN4 57142 broad.mit.edu 37 2 55252359 55252359 + Missense_Mutation SNP G G A TCGA-QR-A70K-01A-12D-A35D-08 TCGA-QR-A70K-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b364e89-dcc0-4745-bbdb-815f52c81377 cb60fb86-b526-4433-8244-3174f160d475 g.chr2:55252359G>A ENST00000337526.6 - 3 3119 c.2876C>T c.(2875-2877)gCc>gTc p.A959V RTN4_ENST00000405240.1_Missense_Mutation_p.A753V|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000357732.4_Intron|RTN4_ENST00000394611.2_Missense_Mutation_p.A753V|RTN4_ENST00000317610.7_Intron|RTN4_ENST00000354474.6_Missense_Mutation_p.A727V|RTN4_ENST00000357376.3_Missense_Mutation_p.A753V|RTN4_ENST00000404909.1_Missense_Mutation_p.A753V NM_020532.4 NP_065393.1 Q9NQC3 RTN4_HUMAN reticulon 4 959 apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane protein binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1) 36 TGCTTGAGTGGCCAAAGCAGA 0.403000 4 108 0 0 1 0 0 OR10X1 128367 broad.mit.edu 37 1 158549598 158549598 + Missense_Mutation SNP A A G TCGA-QR-A70K-01A-12D-A35D-08 TCGA-QR-A70K-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b364e89-dcc0-4745-bbdb-815f52c81377 cb60fb86-b526-4433-8244-3174f160d475 g.chr1:158549598A>G ENST00000368150.1 - 1 91 c.92T>C c.(91-93)gTt>gCt p.V31A NM_001004477.1 NP_001004477.1 Q8NGY0 O10X1_HUMAN olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene) 31 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1) 37 all_hematologic(112;0.0378) AGAAAAGCCAACAAGAATGAA 0.368000 20 223 0 0 1 0 0 TRIM51 84767 broad.mit.edu 37 11 55653270 55653270 + Silent SNP G G A TCGA-QR-A70K-01A-12D-A35D-08 TCGA-QR-A70K-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b364e89-dcc0-4745-bbdb-815f52c81377 cb60fb86-b526-4433-8244-3174f160d475 g.chr11:55653270G>A ENST00000449290.2 + 2 458 c.366G>A c.(364-366)cgG>cgA p.R122R NM_032681.3 NP_116070.2 Q9BSJ1 SPRY5_HUMAN tripartite motif-containing 51 122 intracellular zinc ion binding AGGAGCACCGGAATCACATAC 0.478000 8 67 0 0 1 0 0 POLR3B 55703 broad.mit.edu 37 12 106897897 106897897 + Missense_Mutation SNP G G A TCGA-QR-A70K-01A-12D-A35D-08 TCGA-QR-A70K-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b364e89-dcc0-4745-bbdb-815f52c81377 cb60fb86-b526-4433-8244-3174f160d475 g.chr12:106897897G>A ENST00000228347.4 + 27 3359 c.3137G>A c.(3136-3138)cGt>cAt p.R1046H RP11-144F15.1_ENST00000551505.1_Intron|POLR3B_ENST00000539066.1_Missense_Mutation_p.R988H NM_018082.5 NP_060552.4 Q9NW08 RPC2_HUMAN polymerase (RNA) III (DNA directed) polypeptide B 1046 innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter nucleoplasm DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2) 57 GGTGGCTTGCGTCTCGGGGAA 0.418000 6 131 0 0 1 0 0 PIGO 84720 broad.mit.edu 37 9 35092369 35092369 + Silent SNP C C T TCGA-QR-A70K-01A-12D-A35D-08 TCGA-QR-A70K-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b364e89-dcc0-4745-bbdb-815f52c81377 cb60fb86-b526-4433-8244-3174f160d475 g.chr9:35092369C>T ENST00000378617.3 - 7 1909 c.1515G>A c.(1513-1515)gaG>gaA p.E505E PIGO_ENST00000361778.2_Intron|PIGO_ENST00000298004.5_Intron|PIGO_ENST00000341666.3_Silent_p.E505E NM_032634.3 NP_116023.2 Q8TEQ8 PIGO_HUMAN phosphatidylinositol glycan anchor biosynthesis, class O 505 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane transferase activity endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3) 38 LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778) CTAGCTTCAGCTCAATAGTTC 0.582000 10 49 0 0 1 0 0 HECA 51696 broad.mit.edu 37 6 139488311 139488311 + Missense_Mutation SNP C C T TCGA-QR-A70K-01A-12D-A35D-08 TCGA-QR-A70K-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b364e89-dcc0-4745-bbdb-815f52c81377 cb60fb86-b526-4433-8244-3174f160d475 g.chr6:139488311C>T ENST00000367658.2 + 2 1447 c.1162C>T c.(1162-1164)Ctc>Ttc p.L388F RP1-225E12.3_ENST00000585874.1_RNA|RP1-225E12.2_ENST00000586229.1_RNA|RP1-225E12.2_ENST00000587577.1_RNA|RP1-225E12.2_ENST00000415194.2_RNA|RP1-225E12.2_ENST00000588529.1_RNA|RP1-225E12.2_ENST00000586266.1_RNA|RP1-225E12.2_ENST00000590679.1_RNA|RP1-225E12.2_ENST00000588638.1_RNA|RP1-225E12.2_ENST00000589192.1_RNA NM_016217.2 NP_057301.1 Q9UBI9 HDC_HUMAN headcase homolog (Drosophila) 388 respiratory tube development endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1) 15 GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387) TCTGGCCGCGCTCAGTGCCAG 0.577000 12 45 0 0 1 0 0 THOC1 9984 broad.mit.edu 37 18 246364 246364 + Missense_Mutation SNP C C T TCGA-QR-A70K-01A-12D-A35D-08 TCGA-QR-A70K-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b364e89-dcc0-4745-bbdb-815f52c81377 cb60fb86-b526-4433-8244-3174f160d475 g.chr18:246364C>T ENST00000261600.6 - 11 885 c.878G>A c.(877-879)gGa>gAa p.G293E THOC1_ENST00000582313.1_5'UTR NM_005131.2 NP_005122.2 Q96FV9 THOC1_HUMAN THO complex 1 293 apoptosis|intronless viral mRNA export from host nucleus|mRNA processing|regulation of transcription elongation, DNA-dependent|RNA splicing|signal transduction|transcription, DNA-dependent cytoplasm|nuclear matrix|nuclear speck|THO complex part of transcription export complex DNA binding|protein binding|RNA binding breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1) 20 all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412) TACATGTTCTCCTCCTGTTTT 0.274000 7 41 0 0 1 0 0 RP11-156P1.3 0 broad.mit.edu 37 17 45128671 45128671 + RNA SNP T T G rs1056072 by1000genomes TCGA-QR-A70K-01A-12D-A35D-08 TCGA-QR-A70K-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b364e89-dcc0-4745-bbdb-815f52c81377 cb60fb86-b526-4433-8244-3174f160d475 g.chr17:45128671T>G ENST00000575173.1 - 0 418 GCTCACAAAATAAGTTCCAGG 0.323000 4 283 0 0 1 0 0 C5 727 broad.mit.edu 37 9 123742463 123742463 + Missense_Mutation SNP A A C TCGA-QR-A70K-01A-12D-A35D-08 TCGA-QR-A70K-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b364e89-dcc0-4745-bbdb-815f52c81377 cb60fb86-b526-4433-8244-3174f160d475 g.chr9:123742463A>C ENST00000223642.1 - 28 3585 c.3556T>G c.(3556-3558)Ttt>Gtt p.F1186V NM_001735.2 NP_001726.2 P01031 CO5_HUMAN complement component 5 1186 activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production extracellular space|membrane attack complex chemokine activity|endopeptidase inhibitor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242) Eculizumab(DB01257) GCCAATGTAAAGGTGCTCTGG 0.408000 21 77 0 0 1 0 0 KLRD1 3824 broad.mit.edu 37 12 10462061 10462061 + Nonsense_Mutation SNP G G T TCGA-QR-A70K-01A-12D-A35D-08 TCGA-QR-A70K-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b364e89-dcc0-4745-bbdb-815f52c81377 cb60fb86-b526-4433-8244-3174f160d475 g.chr12:10462061G>T ENST00000381908.3 + 2 342 c.82G>T c.(82-84)Gga>Tga p.G28* KLRD1_ENST00000538997.1_Intron|KLRD1_ENST00000543777.1_Nonsense_Mutation_p.G28*|KLRD1_ENST00000381907.4_Nonsense_Mutation_p.G28*|KLRD1_ENST00000543420.1_Nonsense_Mutation_p.G28*|KLRD1_ENST00000350274.5_Intron|KLRD1_ENST00000336164.4_Nonsense_Mutation_p.G28* Q13241 KLRD1_HUMAN killer cell lectin-like receptor subfamily D, member 1 28 cell surface receptor linked signaling pathway|regulation of immune response integral to membrane|plasma membrane sugar binding|transmembrane receptor activity endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2) 10 GTCTACGTTGGGAATTTTGTT 0.343000 15 69 3.32936e-07 3.39218e-07 1 1 0 HAT1 8520 broad.mit.edu 37 2 172841113 172841113 + Missense_Mutation SNP A A G TCGA-QR-A70K-01A-12D-A35D-08 TCGA-QR-A70K-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b364e89-dcc0-4745-bbdb-815f52c81377 cb60fb86-b526-4433-8244-3174f160d475 g.chr2:172841113A>G ENST00000264108.4 + 9 877 c.841A>G c.(841-843)Agc>Ggc p.S281G SLC25A12_ENST00000472748.1_Intron|HAT1_ENST00000392584.1_Missense_Mutation_p.S196G NM_003642.3 NP_003633.1 O14929 HAT1_HUMAN histone acetyltransferase 1 281 chromatin silencing at telomere|DNA packaging cytoplasm|nuclear matrix|nucleoplasm histone acetyltransferase activity|protein binding breast(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|prostate(1) 19 OV - Ovarian serous cystadenocarcinoma(117;0.216) TCCATCCAAAAGCTATGTGAA 0.333000 27 2 0 0 1 0 0 TRIP11 9321 broad.mit.edu 37 14 92470283 92470283 + Missense_Mutation SNP T T C TCGA-QR-A70K-01A-12D-A35D-08 TCGA-QR-A70K-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b364e89-dcc0-4745-bbdb-815f52c81377 cb60fb86-b526-4433-8244-3174f160d475 g.chr14:92470283T>C ENST00000267622.4 - 11 4410 c.4037A>G c.(4036-4038)cAg>cGg p.Q1346R NM_004239.3 NP_004230.2 Q15643 TRIPB_HUMAN thyroid hormone receptor interactor 11 1346 QQ -> HE (in Ref. 4; AAB84386). transcription from RNA polymerase II promoter cytoskeleton|Golgi apparatus|membrane|nucleus protein binding|transcription coactivator activity breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 COAD - Colon adenocarcinoma(157;0.223) TAACTCTTGCTGAAGCAATTC 0.418000 T PDGFRB AML 17 62 0 0 1 0 0 FAM83D 81610 broad.mit.edu 37 20 37576619 37576619 + Missense_Mutation SNP T T A TCGA-QR-A70K-01A-12D-A35D-08 TCGA-QR-A70K-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b364e89-dcc0-4745-bbdb-815f52c81377 cb60fb86-b526-4433-8244-3174f160d475 g.chr20:37576619T>A ENST00000217429.4 + 3 883 c.842T>A c.(841-843)aTc>aAc p.I281N NM_030919.2 NP_112181.2 Q9H4H8 FA83D_HUMAN family with sequence similarity 83, member D 251 cell division|mitosis cytoplasm|spindle pole endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1) 28 Myeloproliferative disorder(115;0.00878) ATTGATGGCATCCGCGTGGCA 0.418000 12 75 0 0 1 0 0 DOCK8 81704 broad.mit.edu 37 9 441994 441994 + Silent SNP C C T TCGA-QR-A70K-01A-12D-A35D-08 TCGA-QR-A70K-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b364e89-dcc0-4745-bbdb-815f52c81377 cb60fb86-b526-4433-8244-3174f160d475 g.chr9:441994C>T ENST00000432829.2 + 42 5587 c.5271C>T c.(5269-5271)atC>atT p.I1757I DOCK8_ENST00000453981.1_Silent_p.I1825I|DOCK8_ENST00000382329.1_Silent_p.I1292I|DOCK8_ENST00000469391.1_Silent_p.I1725I NM_203447.3 NP_982272.2 Q8NF50 DOCK8_HUMAN dedicator of cytokinesis 8 1825 DHR-2. blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 65 all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128) all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942) TTCCTGAGATCTCACATAGAC 0.403000 10 85 0 0 1 0 0 DCAF11 80344 broad.mit.edu 37 14 24592285 24592285 + Splice_Site SNP C C T TCGA-QR-A70K-01A-12D-A35D-08 TCGA-QR-A70K-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b364e89-dcc0-4745-bbdb-815f52c81377 cb60fb86-b526-4433-8244-3174f160d475 g.chr14:24592285C>T ENST00000446197.3 + 14 2232 c.1506_splice c.e14+1 p.S502_splice DCAF11_ENST00000396936.1_Splice_Site_p.S402_splice|RP11-468E2.6_ENST00000558325.1_Splice_Site_p.F91_splice|DCAF11_ENST00000559115.1_Splice_Site_p.S502_splice|DCAF11_ENST00000396941.4_Splice_Site_p.S476_splice NM_025230.4 NP_079506.3 Q8TEB1 DCA11_HUMAN DDB1 and CUL4 associated factor 11 502 CUL4 RING ubiquitin ligase complex protein binding p.S502L(1) GTCAGCAGTTCGGTGAGGTTG 0.572000 14 43 0 0 1 0 0 CPSF4 10898 broad.mit.edu 37 7 99054072 99054072 + Silent SNP C C T TCGA-QR-A70K-01A-12D-A35D-08 TCGA-QR-A70K-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b364e89-dcc0-4745-bbdb-815f52c81377 cb60fb86-b526-4433-8244-3174f160d475 g.chr7:99054072C>T ENST00000436336.2 + 8 845 c.684C>T c.(682-684)caC>caT p.H228H ATP5J2-PTCD1_ENST00000413834.1_Intron|ATP5J2_ENST00000466753.1_Intron|CPSF4_ENST00000292476.5_Silent_p.H253H|PTCD1_ENST00000555673.1_Intron|CPSF4_ENST00000451876.1_Silent_p.H195H|CPSF4_ENST00000441580.1_Silent_p.H175H NM_001081559.1|NM_006693.2 NP_001075028.1|NP_006684.1 O95639 CPSF4_HUMAN cleavage and polyadenylation specific factor 4, 30kDa 253 modification by virus of host mRNA processing|mRNA processing|viral infectious cycle mRNA cleavage and polyadenylation specificity factor complex RNA binding|zinc ion binding breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(5) 14 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) AGAAAGGACACTACGCCAACA 0.577000 15 23 0 0 1 0 0 LOC100294341 100294341 broad.mit.edu 37 17 43587730 43587730 + RNA SNP A A C rs142536398 by1000genomes TCGA-QR-A70K-01A-12D-A35D-08 TCGA-QR-A70K-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b364e89-dcc0-4745-bbdb-815f52c81377 cb60fb86-b526-4433-8244-3174f160d475 g.chr17:43587730A>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA GTATTGATTCATTTTATTCAT 0.343000 3 50 0 0 1 0 0 RTP4 64108 broad.mit.edu 37 3 187089150 187089150 + Missense_Mutation SNP A A G TCGA-QR-A70K-01A-12D-A35D-08 TCGA-QR-A70K-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b364e89-dcc0-4745-bbdb-815f52c81377 cb60fb86-b526-4433-8244-3174f160d475 g.chr3:187089150A>G ENST00000259030.2 + 2 840 c.730A>G c.(730-732)Aca>Gca p.T244A NM_022147.2 NP_071430.2 Q96DX8 RTP4_HUMAN receptor (chemosensory) transporter protein 4 244 detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane cytoplasm|integral to membrane protein binding breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1) 11 all_cancers(143;4.66e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.56e-18) GBM - Glioblastoma multiforme(93;0.0269) CAAATGCTTTACATCAGAATG 0.378000 11 16 0 0 1 0 0 OSBPL6 114880 broad.mit.edu 37 2 179255937 179255937 + Missense_Mutation SNP G G T TCGA-QR-A70K-01A-12D-A35D-08 TCGA-QR-A70K-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b364e89-dcc0-4745-bbdb-815f52c81377 cb60fb86-b526-4433-8244-3174f160d475 g.chr2:179255937G>T ENST00000190611.4 + 22 2815 c.2439G>T c.(2437-2439)tgG>tgT p.W813C OSBPL6_ENST00000409631.1_Missense_Mutation_p.W777C|OSBPL6_ENST00000392505.2_Missense_Mutation_p.W838C|OSBPL6_ENST00000359685.3_Missense_Mutation_p.W777C|OSBPL6_ENST00000315022.2_Missense_Mutation_p.W817C|OSBPL6_ENST00000409045.3_Missense_Mutation_p.W782C NM_032523.3 NP_115912.1 Q9BZF3 OSBL6_HUMAN oxysterol binding protein-like 6 813 lipid transport lipid binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 46 OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335) AGTGCATTTGGAGACCAGGTG 0.527000 45 11 1.35964e-18 1.49838e-18 1 1 0 PYGB 5834 broad.mit.edu 37 20 25273158 25273158 + Missense_Mutation SNP G G A TCGA-QR-A70K-01A-12D-A35D-08 TCGA-QR-A70K-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b364e89-dcc0-4745-bbdb-815f52c81377 cb60fb86-b526-4433-8244-3174f160d475 g.chr20:25273158G>A ENST00000216962.4 + 17 2196 c.2086G>A c.(2086-2088)Gcc>Acc p.A696T NM_002862.3 NP_002853.2 P11216 PYGB_HUMAN phosphorylase, glycogen; brain 696 glucose metabolic process|glycogen catabolic process cytoplasm glycogen phosphorylase activity|pyridoxal phosphate binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 31 Pyridoxal Phosphate(DB00114) CATGGACGGCGCCAACGTGGA 0.647000 21 81 0 0 1 0 0 FGF16 8823 broad.mit.edu 37 X 76709702 76709702 + Missense_Mutation SNP A A G TCGA-QR-A70K-01A-12D-A35D-08 TCGA-QR-A70K-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b364e89-dcc0-4745-bbdb-815f52c81377 cb60fb86-b526-4433-8244-3174f160d475 g.chrX:76709702A>G ENST00000439435.1 + 1 55 c.55A>G c.(55-57)Act>Gct p.T19A O43320 FGF16_HUMAN fibroblast growth factor 16 0 cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|metabolic process|organ morphogenesis|response to temperature stimulus extracellular space growth factor activity NS(1)|breast(1)|lung(2) 4 CGGGGAGTGGACTCTGGCCTG 0.428000 6 9 0 0 1 0 0 NBPF9 400818 broad.mit.edu 37 1 144814702 144814702 + Missense_Mutation SNP G G T rs145249789 by1000genomes TCGA-QR-A70K-01A-12D-A35D-08 TCGA-QR-A70K-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b364e89-dcc0-4745-bbdb-815f52c81377 cb60fb86-b526-4433-8244-3174f160d475 g.chr1:144814702G>T ENST00000440491.2 + 3 340 c.340G>T c.(340-342)Gct>Tct p.A114S NBPF9_ENST00000468645.1_3'UTR|NBPF9_ENST00000281815.8_5'UTR|NBPF9_ENST00000338347.4_Missense_Mutation_p.A114S NM_001037675.2 NP_001032764.1 neuroblastoma breakpoint family, member 9 NS(2)|prostate(1) 3 CCTGGTTCACGCTCAGGAACG 0.493000 4 114 5.4927e-09 5.70396e-09 1 1 0 PROM1 8842 broad.mit.edu 37 4 15989292 15989292 + Silent SNP T T A TCGA-QR-A70K-01A-12D-A35D-08 TCGA-QR-A70K-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b364e89-dcc0-4745-bbdb-815f52c81377 cb60fb86-b526-4433-8244-3174f160d475 g.chr4:15989292T>A ENST00000505450.1 - 19 2709 c.2097A>T c.(2095-2097)ggA>ggT p.G699G PROM1_ENST00000539194.1_Silent_p.G708G|PROM1_ENST00000540805.1_Silent_p.G708G|PROM1_ENST00000508167.1_Silent_p.G699G|PROM1_ENST00000447510.2_Silent_p.G708G|PROM1_ENST00000510224.1_Silent_p.G708G|PROM1_ENST00000543373.1_Silent_p.G699G NM_001145848.1 NP_001139320.1 O43490 PROM1_HUMAN prominin 1 708 camera-type eye photoreceptor cell differentiation|photoreceptor cell maintenance|retina layer formation apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment membrane|plasma membrane beta-actinin binding|cadherin binding breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2) 35 TTACCAACAATCCATTCCCTG 0.353000 23 109 0 0 1 0 0 ZFR 51663 broad.mit.edu 37 5 32419951 32419953 + In_Frame_Del DEL GGT GGT - TCGA-QR-A70K-01A-12D-A35D-08 TCGA-QR-A70K-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b364e89-dcc0-4745-bbdb-815f52c81377 cb60fb86-b526-4433-8244-3174f160d475 g.chr5:32419951_32419953delGGT ENST00000265069.8 - 3 495_497 c.393_395delACC c.(391-396)ccc>cc p.PP131del NM_016107.3 NP_057191.2 Q96KR1 ZFR_HUMAN zinc finger RNA binding protein 131 Ala-rich. multicellular organismal development chromosome|cytoplasm|nucleus DNA binding|RNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2) 32 STAD - Stomach adenocarcinoma(35;0.19) AGTAGCTGGGGGTGGTGGTGGTG 0.483 7 383 --- --- --- --- RUNX2 860 broad.mit.edu 37 6 45296445 45296446 + Frame_Shift_Ins INS - - A TCGA-QR-A70K-01A-12D-A35D-08 TCGA-QR-A70K-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b364e89-dcc0-4745-bbdb-815f52c81377 cb60fb86-b526-4433-8244-3174f160d475 g.chr6:45296445_45296446insA ENST00000352853.5 + 2 186_187 c.186_187insA c.(184-189)ctaaaafs p.LK62fs SUPT3H_ENST00000371460.1_Intron|RUNX2_ENST00000541979.1_Frame_Shift_Ins_p.LK62fs|RUNX2_ENST00000465038.2_5'UTR|SUPT3H_ENST00000306867.5_Intron|SUPT3H_ENST00000459689.1_Intron|RUNX2_ENST00000371438.1_5'UTR|RUNX2_ENST00000483243.1_3'UTR|SUPT3H_ENST00000371459.1_Intron Q13950 RUNX2_HUMAN runt-related transcription factor 2 0 Poly-Gln. negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 AGTTCTATCTGAAAAAAAAAGG 0.386 7 86 --- --- --- --- LIPE-AS1 100996307 broad.mit.edu 37 19 42989130 42989130 + RNA DEL T T - rs76061290 TCGA-QR-A70K-01A-12D-A35D-08 TCGA-QR-A70K-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b364e89-dcc0-4745-bbdb-815f52c81377 cb60fb86-b526-4433-8244-3174f160d475 g.chr19:42989130delT ENST00000594688.1 + 0 1450 LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000593740.2_RNA|LIPE-AS1_ENST00000596116.1_RNA|LIPE-AS1_ENST00000457234.2_RNA|LIPE-AS1_ENST00000597203.1_RNA NR_073179.1 tatttatttatttttttttaA 0.254 2 4 --- --- --- --- MBOAT7 79143 broad.mit.edu 37 19 54692324 54692324 + Frame_Shift_Del DEL A A - TCGA-QR-A70K-01A-12D-A35D-08 TCGA-QR-A70K-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b364e89-dcc0-4745-bbdb-815f52c81377 cb60fb86-b526-4433-8244-3174f160d475 g.chr19:54692324delA ENST00000245615.1 - 2 519 c.39delT c.(37-39)ctfs p.L13fs MBOAT7_ENST00000431666.2_5'UTR|MBOAT7_ENST00000338624.6_Intron|MBOAT7_ENST00000474910.1_Intron|MBOAT7_ENST00000391754.1_Frame_Shift_Del_p.L13fs NM_024298.3 NP_077274.3 Q96N66 MBOA7_HUMAN membrane bound O-acyltransferase domain containing 7 13 phospholipid biosynthetic process integral to membrane acyltransferase activity endometrium(4)|large_intestine(1)|lung(3)|prostate(1)|skin(1) 10 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) GGATGGAGATAAGAAGAACCA 0.567 OREG0003643 type=REGULATORY REGION|Gene=LENG4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 2 4 --- --- --- ---