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 ATE1 11101 broad.mit.edu 37 10 123658410 123658410 + Silent SNP G G C TCGA-V1-A8MU-01A-11D-A377-08 TCGA-V1-A8MU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 942a31bd-5417-43df-bc54-b74f9d8745ce 3f2fdbd9-19b0-41e2-87f3-ebc0f5fa5215 g.chr10:123658410G>C ENST00000369043.3 - 7 974 c.888C>G c.(886-888)gtC>gtG p.V296V ATE1_ENST00000543447.1_Intron|ATE1_ENST00000369040.3_Silent_p.V200V|ATE1_ENST00000535655.1_Intron|ATE1_ENST00000481784.1_Intron|ATE1_ENST00000224652.6_Intron|ATE1_ENST00000540606.1_Silent_p.V289V NM_007041.2 NP_008972.2 O95260 ATE1_HUMAN arginyltransferase 1 296 protein arginylation cytoplasm|nucleus acyltransferase activity|arginyltransferase activity endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212) CTTGATACTTGACATACAAAG 0.443000 9 29 0 0 1 0 0 KCTD8 386617 broad.mit.edu 37 4 44449755 44449755 + Silent SNP C C T TCGA-V1-A8MU-01A-11D-A377-08 TCGA-V1-A8MU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 942a31bd-5417-43df-bc54-b74f9d8745ce 3f2fdbd9-19b0-41e2-87f3-ebc0f5fa5215 g.chr4:44449755C>T ENST00000360029.3 - 1 1069 c.786G>A c.(784-786)ccG>ccA p.P262P NM_198353.2 NP_938167.1 Q6ZWB6 KCTD8_HUMAN potassium channel tetramerization domain containing 8 262 cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex voltage-gated potassium channel activity central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4) 41 TGTACTTCTCCGGCTGCCGGT 0.647000 HNSCC(17;0.042) 9 36 0 0 1 0 0 KCNB1 3745 broad.mit.edu 37 20 48098528 48098528 + Missense_Mutation SNP C C T TCGA-V1-A8MU-01A-11D-A377-08 TCGA-V1-A8MU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 942a31bd-5417-43df-bc54-b74f9d8745ce 3f2fdbd9-19b0-41e2-87f3-ebc0f5fa5215 g.chr20:48098528C>T ENST00000371741.4 - 1 656 c.490G>A c.(490-492)Gat>Aat p.D164N NM_004975.2 NP_004966.1 Q14721 KCNB1_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 1 164 energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1) 53 BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) CACGTGTTATCGAACTCCTCG 0.592000 12 51 0 0 1 0 0 HSPB2 3316 broad.mit.edu 37 11 111784196 111784196 + Silent SNP A A G TCGA-V1-A8MU-01A-11D-A377-08 TCGA-V1-A8MU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 942a31bd-5417-43df-bc54-b74f9d8745ce 3f2fdbd9-19b0-41e2-87f3-ebc0f5fa5215 g.chr11:111784196A>G ENST00000304298.3 + 2 714 c.126A>G c.(124-126)acA>acG p.T42T CRYAB_ENST00000527950.1_Intron|HSPB2_ENST00000537382.1_Silent_p.T42T|HSPB2-C11orf52_ENST00000534100.1_Intron|CRYAB_ENST00000533475.1_Intron NM_001541.3 NP_001532.1 Q16082 HSPB2_HUMAN heat shock 27kDa protein 2 42 response to heat|response to unfolded protein cytosol|nucleus enzyme activator activity|protein binding large_intestine(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 all_cancers(61;3.75e-11)|all_epithelial(67;2.33e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663) Epithelial(105;3.57e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.57e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.051) TGACCCCCACACTCTACCATG 0.637000 30 108 0 0 1 0 0 NAV3 89795 broad.mit.edu 37 12 78400952 78400952 + Missense_Mutation SNP G G A TCGA-V1-A8MU-01A-11D-A377-08 TCGA-V1-A8MU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 942a31bd-5417-43df-bc54-b74f9d8745ce 3f2fdbd9-19b0-41e2-87f3-ebc0f5fa5215 g.chr12:78400952G>A ENST00000397909.2 + 8 1807 c.1634G>A c.(1633-1635)aGc>aAc p.S545N NAV3_ENST00000266692.7_Missense_Mutation_p.S545N|NAV3_ENST00000536525.2_Missense_Mutation_p.S545N|NAV3_ENST00000228327.6_Missense_Mutation_p.S545N Q8IVL0 NAV3_HUMAN neuron navigator 3 545 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 TCACCTGGCAGCACAGCAAGC 0.453000 HNSCC(70;0.22) 3 32 0 0 1 0 0 MUC5B 727897 broad.mit.edu 37 11 1273662 1273662 + Missense_Mutation SNP G G A TCGA-V1-A8MU-01A-11D-A377-08 TCGA-V1-A8MU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 942a31bd-5417-43df-bc54-b74f9d8745ce 3f2fdbd9-19b0-41e2-87f3-ebc0f5fa5215 g.chr11:1273662G>A ENST00000447027.1 + 32 15020 c.14962G>A c.(14962-14964)Gcc>Acc p.A4988T MUC5B_ENST00000529681.1_Missense_Mutation_p.A4985T Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 4985 cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) CTTCCAGGGCGCCTGTCCCAC 0.637000 9 32 0 0 1 0 0 ADAMTS19 171019 broad.mit.edu 37 5 128994429 128994429 + Splice_Site SNP A A G TCGA-V1-A8MU-01A-11D-A377-08 TCGA-V1-A8MU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 942a31bd-5417-43df-bc54-b74f9d8745ce 3f2fdbd9-19b0-41e2-87f3-ebc0f5fa5215 g.chr5:128994429A>G ENST00000274487.4 + 15 2551 c.2407_splice c.e15+1 p.A802_splice CTC-575N7.1_ENST00000503616.1_RNA NM_133638.3 NP_598377.3 Q8TE59 ATS19_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 19 802 Spacer. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6) 91 all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.222) CCAGAGGAGCAGGTAATTTTT 0.313000 13 38 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453134 140453134 + Missense_Mutation SNP T T C rs121913377 TCGA-V1-A8MU-01A-11D-A377-08 TCGA-V1-A8MU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 942a31bd-5417-43df-bc54-b74f9d8745ce 3f2fdbd9-19b0-41e2-87f3-ebc0f5fa5215 g.chr7:140453134T>C ENST00000288602.6 - 15 1861 c.1801A>G c.(1801-1803)Aaa>Gaa p.K601E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 601 Protein kinase. K -> E (in colorectal cancer).|K -> Q (in CFC syndrome). 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.K601E(40)|p.V600_K601>E(12)|p.T599_R603>I(2)|p.K601del(1)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(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) CATCGAGATTTCACTGTAGCT 0.368000 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 11 40 0 0 1 0 0 CTCF 10664 broad.mit.edu 37 16 67645414 67645414 + Missense_Mutation SNP G G C TCGA-V1-A8MU-01A-11D-A377-08 TCGA-V1-A8MU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 942a31bd-5417-43df-bc54-b74f9d8745ce 3f2fdbd9-19b0-41e2-87f3-ebc0f5fa5215 g.chr16:67645414G>C ENST00000264010.4 + 3 1123 c.679G>C c.(679-681)Gat>Cat p.D227H CTCF_ENST00000401394.1_Intron NM_006565.3 NP_006556.1 P49711 CTCF_HUMAN CCCTC-binding factor (zinc finger protein) 227 chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 79 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577) GTCTGTCTACGATTTTGAGGA 0.413000 13 38 0 0 1 0 0 ARL13B 200894 broad.mit.edu 37 3 93769715 93769715 + Missense_Mutation SNP C C G TCGA-V1-A8MU-01A-11D-A377-08 TCGA-V1-A8MU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 942a31bd-5417-43df-bc54-b74f9d8745ce 3f2fdbd9-19b0-41e2-87f3-ebc0f5fa5215 g.chr3:93769715C>G ENST00000535334.1 + 8 1403 c.880C>G c.(880-882)Ctt>Gtt p.L294V DHFRL1_ENST00000481631.1_Intron|ARL13B_ENST00000394222.3_Missense_Mutation_p.L397V|ARL13B_ENST00000303097.7_Missense_Mutation_p.L290V|ARL13B_ENST00000471138.1_Missense_Mutation_p.L397V|ARL13B_ENST00000539730.1_Missense_Mutation_p.L118V NM_001174151.1 NP_001167622.1 Q3SXY8 AR13B_HUMAN ADP-ribosylation factor-like 13B 397 GTP binding endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(2) 10 ACTTGAGCCTCTTGGTGAAAC 0.338000 9 36 0 0 1 0 0 OR12D3 81797 broad.mit.edu 37 6 29342301 29342301 + Missense_Mutation SNP C C A TCGA-V1-A8MU-01A-11D-A377-08 TCGA-V1-A8MU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 942a31bd-5417-43df-bc54-b74f9d8745ce 3f2fdbd9-19b0-41e2-87f3-ebc0f5fa5215 g.chr6:29342301C>A ENST00000396806.3 - 1 767 c.764G>T c.(763-765)gGc>gTc p.G255V OR5V1_ENST00000377154.1_Intron NM_030959.2 NP_112221.1 Q9UGF7 O12D3_HUMAN olfactory receptor, family 12, subfamily D, member 3 255 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(3) 23 ATATGTGAAGCCCACAGGTCC 0.478000 3 40 0.00024832 0.000254687 1 1 0 NR1I3 0 broad.mit.edu 37 1 161203129 161203129 + Splice_Site SNP C C A TCGA-V1-A8MU-01A-11D-A377-08 TCGA-V1-A8MU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 942a31bd-5417-43df-bc54-b74f9d8745ce 3f2fdbd9-19b0-41e2-87f3-ebc0f5fa5215 g.chr1:161203129C>A ENST00000367983.4 - 4 533 c.e4-1 NR1I3_ENST00000505005.1_Splice_Site|NR1I3_ENST00000367984.4_Splice_Site|NR1I3_ENST00000504010.1_Splice_Site|NR1I3_ENST00000437437.2_Splice_Site|NR1I3_ENST00000515621.1_Splice_Site|NR1I3_ENST00000515452.1_Splice_Site|NR1I3_ENST00000367981.3_Splice_Site|NR1I3_ENST00000512372.1_Splice_Site|NR1I3_ENST00000511944.1_Intron|NR1I3_ENST00000511676.1_Splice_Site|NR1I3_ENST00000428574.2_Splice_Site|NR1I3_ENST00000511748.1_Intron|NR1I3_ENST00000508740.1_Splice_Site|NR1I3_ENST00000508387.1_Intron|NR1I3_ENST00000506209.1_Splice_Site|NR1I3_ENST00000412844.2_Splice_Site|NR1I3_ENST00000502985.1_Intron|NR1I3_ENST00000367982.4_Splice_Site|NR1I3_ENST00000367979.2_Splice_Site|NR1I3_ENST00000367985.3_Splice_Site|NR1I3_ENST00000367980.2_Splice_Site|NR1I3_ENST00000442691.2_Splice_Site Q14994 NR1I3_HUMAN nuclear receptor subfamily 1, group I, member 3 regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm androgen receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity|transcription coactivator activity|zinc ion binding endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1) 15 all_cancers(52;1.86e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00376) GACAGTATCACTGTGCCAGGC 0.577000 20 51 0.000132079 0.00013903 1 1 0 RP11-423O2.5 0 broad.mit.edu 37 1 142803543 142803543 + RNA SNP C C T TCGA-V1-A8MU-01A-11D-A377-08 TCGA-V1-A8MU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 942a31bd-5417-43df-bc54-b74f9d8745ce 3f2fdbd9-19b0-41e2-87f3-ebc0f5fa5215 g.chr1:142803543C>T ENST00000423385.1 - 0 1422 TGTTGGAATTCCTGATGAATC 0.269000 4 60 0 0 1 0 0 SERHL 94009 broad.mit.edu 37 22 42905063 42905063 + RNA SNP G G A TCGA-V1-A8MU-01A-11D-A377-08 TCGA-V1-A8MU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 942a31bd-5417-43df-bc54-b74f9d8745ce 3f2fdbd9-19b0-41e2-87f3-ebc0f5fa5215 g.chr22:42905063G>A ENST00000359906.2 + 0 644 NR_027786.1 serine hydrolase-like endometrium(1)|large_intestine(1) 2 TCGTCAGCAGGGAGCTGTGTG 0.552000 9 36 0 0 1 0 0 PCDHA7 0 broad.mit.edu 37 5 140215501 140215501 + Silent SNP C C T TCGA-V1-A8MU-01A-11D-A377-08 TCGA-V1-A8MU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 942a31bd-5417-43df-bc54-b74f9d8745ce 3f2fdbd9-19b0-41e2-87f3-ebc0f5fa5215 g.chr5:140215501C>T ENST00000525929.1 + 1 1533 c.1533C>T c.(1531-1533)caC>caT p.H511H PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000378125.3_Silent_p.H511H NM_018910.2 NP_061733.1 NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 63 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGTCAGTGCACGCGGAGAGCG 0.706000 36 97 0 0 1 0 0 TUBB8P7 0 broad.mit.edu 37 16 90161618 90161618 + RNA SNP C C T rs13338202 by1000genomes TCGA-V1-A8MU-01A-11D-A377-08 TCGA-V1-A8MU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 942a31bd-5417-43df-bc54-b74f9d8745ce 3f2fdbd9-19b0-41e2-87f3-ebc0f5fa5215 g.chr16:90161618C>T ENST00000567960.1 + 0 354 TUBB8P7_ENST00000564451.1_RNA p.D118D(2) CAGTGATGGACGTTGTCAGAA 0.607000 3 15 0 0 1 0 0 TRIM42 287015 broad.mit.edu 37 3 140397286 140397286 + Missense_Mutation SNP A A G TCGA-V1-A8MU-01A-11D-A377-08 TCGA-V1-A8MU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 942a31bd-5417-43df-bc54-b74f9d8745ce 3f2fdbd9-19b0-41e2-87f3-ebc0f5fa5215 g.chr3:140397286A>G ENST00000286349.3 + 1 406 c.215A>G c.(214-216)aAt>aGt p.N72S NM_152616.4 NP_689829.3 Q8IWZ5 TRI42_HUMAN tripartite motif containing 42 72 Cys-rich. intracellular zinc ion binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 TCTTGGGCCAATGATCCCAAC 0.537000 17 53 0 0 1 0 0 BNIPL 149428 broad.mit.edu 37 1 151011474 151011474 + Silent SNP G G A TCGA-V1-A8MU-01A-11D-A377-08 TCGA-V1-A8MU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 942a31bd-5417-43df-bc54-b74f9d8745ce 3f2fdbd9-19b0-41e2-87f3-ebc0f5fa5215 g.chr1:151011474G>A ENST00000295294.7 + 4 768 c.159G>A c.(157-159)ctG>ctA p.L53L BNIPL_ENST00000368931.3_Silent_p.L135L NM_001159642.1 NP_001153114.1 Q7Z465 BNIPL_HUMAN BCL2/adenovirus E1B 19kD interacting protein like 135 apoptosis|induction of apoptosis|negative regulation of cell proliferation|regulation of growth rate cytosol|nucleus identical protein binding autonomic_ganglia(1)|endometrium(3)|large_intestine(1)|lung(4)|skin(1) 10 Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) CGGAGCAGCTGGACAGTGGAC 0.502000 3 17 0 0 1 0 0 GLTSCR1L 23506 broad.mit.edu 37 6 42832986 42832986 + Missense_Mutation SNP C C G TCGA-V1-A8MU-01A-11D-A377-08 TCGA-V1-A8MU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 942a31bd-5417-43df-bc54-b74f9d8745ce 3f2fdbd9-19b0-41e2-87f3-ebc0f5fa5215 g.chr6:42832986C>G ENST00000314073.5 + 13 3218 c.3042C>G c.(3040-3042)atC>atG p.I1014M GLTSCR1L_ENST00000394168.1_Missense_Mutation_p.I1014M GLTSCR1-like TTAAGAACATCTTGGAACTCA 0.493000 11 31 0 0 1 0 0 PCDHA8 0 broad.mit.edu 37 5 140222414 140222414 + Nonsense_Mutation SNP C C A TCGA-V1-A8MU-01A-11D-A377-08 TCGA-V1-A8MU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 942a31bd-5417-43df-bc54-b74f9d8745ce 3f2fdbd9-19b0-41e2-87f3-ebc0f5fa5215 g.chr5:140222414C>A ENST00000531613.1 + 1 1508 c.1508C>A c.(1507-1509)tCg>tAg p.S503* PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000378123.3_Nonsense_Mutation_p.S503* NM_018911.2 NP_061734.1 NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGCGAGCGCTCGCTGTCGAGC 0.667000 18 61 2.4624e-09 2.81417e-09 1 1 0 OR4K2 390431 broad.mit.edu 37 14 20344905 20344905 + Missense_Mutation SNP T T G TCGA-V1-A8MU-01A-11D-A377-08 TCGA-V1-A8MU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 942a31bd-5417-43df-bc54-b74f9d8745ce 3f2fdbd9-19b0-41e2-87f3-ebc0f5fa5215 g.chr14:20344905T>G ENST00000298642.2 + 1 515 c.479T>G c.(478-480)gTc>gGc p.V160G NM_001005501.1 NP_001005501.1 Q8NGD2 OR4K2_HUMAN olfactory receptor, family 4, subfamily K, member 2 160 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2) 43 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) ATGAGTCAGGTCATATTTGCC 0.483000 50 237 0 0 1 0 0 TTC7A 57217 broad.mit.edu 37 2 47278891 47278891 + Missense_Mutation SNP G G A TCGA-V1-A8MU-01A-11D-A377-08 TCGA-V1-A8MU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 942a31bd-5417-43df-bc54-b74f9d8745ce 3f2fdbd9-19b0-41e2-87f3-ebc0f5fa5215 g.chr2:47278891G>A ENST00000319190.5 + 18 2392 c.2024G>A c.(2023-2025)cGg>cAg p.R675Q TTC7A_ENST00000409245.1_Missense_Mutation_p.R641Q|TTC7A_ENST00000394850.2_Missense_Mutation_p.R699Q|TTC7A_ENST00000263737.6_Missense_Mutation_p.R321Q NM_020458.2 NP_065191.2 Q9ULT0 TTC7A_HUMAN tetratricopeptide repeat domain 7A 675 binding breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18) Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114) GCAGGCTCCCGGCGGGCTTCG 0.662000 10 52 0 0 1 0 0 ZNF536 9745 broad.mit.edu 37 19 31038939 31038939 + Missense_Mutation SNP C C T TCGA-V1-A8MU-01A-11D-A377-08 TCGA-V1-A8MU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 942a31bd-5417-43df-bc54-b74f9d8745ce 3f2fdbd9-19b0-41e2-87f3-ebc0f5fa5215 g.chr19:31038939C>T ENST00000355537.3 + 4 2560 c.2413C>T c.(2413-2415)Cgg>Tgg p.R805W NM_014717.1 NP_055532.1 O15090 ZN536_HUMAN zinc finger protein 536 805 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 182 Esophageal squamous(110;0.0834) CCATCGGGAGCGGCAGAACGG 0.537000 8 33 0 0 1 0 0 ITGAX 3687 broad.mit.edu 37 16 31382413 31382413 + Silent SNP G G A TCGA-V1-A8MU-01A-11D-A377-08 TCGA-V1-A8MU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 942a31bd-5417-43df-bc54-b74f9d8745ce 3f2fdbd9-19b0-41e2-87f3-ebc0f5fa5215 g.chr16:31382413G>A ENST00000268296.4 + 15 1840 c.1719G>A c.(1717-1719)gcG>gcA p.A573A ITGAX_ENST00000562522.1_Silent_p.A573A NM_000887.3 NP_000878.2 P20702 ITAX_HUMAN integrin, alpha X (complement component 3 receptor 4 subunit) 573 blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis integrin complex protein binding|receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 77 AGCGGATCGCGGGCTCCCAGC 0.582000 14 50 0 0 1 0 0 SEC23B 10483 broad.mit.edu 37 20 18496338 18496338 + Silent SNP C C T TCGA-V1-A8MU-01A-11D-A377-08 TCGA-V1-A8MU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 942a31bd-5417-43df-bc54-b74f9d8745ce 3f2fdbd9-19b0-41e2-87f3-ebc0f5fa5215 g.chr20:18496338C>T ENST00000336714.3 + 4 756 c.324C>T c.(322-324)gcC>gcT p.A108A SEC23B_ENST00000494645.1_3'UTR|SEC23B_ENST00000262544.2_Silent_p.A108A|SEC23B_ENST00000377475.3_Silent_p.A108A|SEC23B_ENST00000377465.1_Silent_p.A108A NM_006363.4|NM_032985.4|NM_032986.3 NP_006354.2|NP_116780.1|NP_116781.1 Q15437 SC23B_HUMAN Sec23 homolog B (S. cerevisiae) 108 ER to Golgi vesicle-mediated transport|intracellular protein transport COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 32 ATCAACCTGCCGAATTGATGC 0.348000 17 82 0 0 1 0 0 MOGAT2 80168 broad.mit.edu 37 11 75442268 75442268 + Missense_Mutation SNP C C A TCGA-V1-A8MU-01A-11D-A377-08 TCGA-V1-A8MU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 942a31bd-5417-43df-bc54-b74f9d8745ce 3f2fdbd9-19b0-41e2-87f3-ebc0f5fa5215 g.chr11:75442268C>A ENST00000526712.1 + 5 1469 c.696C>A c.(694-696)aaC>aaA p.N232K MOGAT2_ENST00000198801.5_Missense_Mutation_p.N314K Q3SYC2 MOGT2_HUMAN monoacylglycerol O-acyltransferase 2 314 glycerol metabolic process endoplasmic reticulum membrane|integral to membrane 2-acylglycerol O-acyltransferase activity NS(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1) 20 Ovarian(111;0.103) AGCTGTGCAACCTCTTCGAGG 0.567000 16 44 0.000566183 0.000566183 1 1 0 MUC2 4583 broad.mit.edu 37 11 1075772 1075772 + Missense_Mutation SNP C C G TCGA-V1-A8MU-01A-11D-A377-08 TCGA-V1-A8MU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 942a31bd-5417-43df-bc54-b74f9d8745ce 3f2fdbd9-19b0-41e2-87f3-ebc0f5fa5215 g.chr11:1075772C>G ENST00000441003.2 + 2 225 c.198C>G c.(196-198)gaC>gaG p.D66E MUC2_ENST00000359061.5_Missense_Mutation_p.D66E NM_002457.2 NP_002448.2 Q02817 MUC2_HUMAN mucin 2, oligomeric mucus/gel-forming 66 VWFD 1. inner mucus layer|outer mucus layer protein binding NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 102 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) TCGCCTCCGACTGCCGAGGCT 0.642000 7 9 0 0 1 0 0 DNAH17 8632 broad.mit.edu 37 17 76482396 76482396 + Silent SNP G G A TCGA-V1-A8MU-01A-11D-A377-08 TCGA-V1-A8MU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 942a31bd-5417-43df-bc54-b74f9d8745ce 3f2fdbd9-19b0-41e2-87f3-ebc0f5fa5215 g.chr17:76482396G>A ENST00000389840.5 - 45 7093 c.6969C>T c.(6967-6969)acC>acT p.T2323T DNAH17_ENST00000586052.1_5'UTR|RP11-559N14.5_ENST00000585969.1_RNA|DNAH17_ENST00000585328.1_Silent_p.T2332T dynein, axonemal, heavy chain 17 NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) CGGGGGGCACGGTCTTCTCCG 0.592000 6 41 0 0 1 0 0 NFASC 23114 broad.mit.edu 37 1 204937483 204937483 + Silent SNP C C T rs140997318 TCGA-V1-A8MU-01A-11D-A377-08 TCGA-V1-A8MU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 942a31bd-5417-43df-bc54-b74f9d8745ce 3f2fdbd9-19b0-41e2-87f3-ebc0f5fa5215 g.chr1:204937483C>T ENST00000367172.4 + 9 1141 c.813C>T c.(811-813)tcC>tcT p.S271S NFASC_ENST00000338586.6_Silent_p.S271S|NFASC_ENST00000513543.1_Silent_p.S282S|NFASC_ENST00000338515.6_Silent_p.S271S|NFASC_ENST00000360049.4_Silent_p.S282S|NFASC_ENST00000339876.6_Silent_p.S271S|NFASC_ENST00000367170.4_Silent_p.S271S|NFASC_ENST00000367169.4_Silent_p.S271S|NFASC_ENST00000539706.1_Silent_p.S282S|NFASC_ENST00000401399.1_Silent_p.S271S|NFASC_ENST00000404076.1_Silent_p.S265S|NFASC_ENST00000403080.1_Silent_p.S271S|NFASC_ENST00000404907.1_Silent_p.S282S|NFASC_ENST00000367171.4_Silent_p.S271S O94856 NFASC_HUMAN neurofascin 271 Ig-like C2-type 3. axon guidance|cell adhesion|myelination|peripheral nervous system development integral to membrane|node of Ranvier|plasma membrane protein binding p.S282S(1) NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 81 all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) GCATCGCCTCCGGGGTGTATG 0.557000 9 29 0 0 1 0 0 PCDHB7 0 broad.mit.edu 37 5 140554104 140554104 + Missense_Mutation SNP A A G TCGA-V1-A8MU-01A-11D-A377-08 TCGA-V1-A8MU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 942a31bd-5417-43df-bc54-b74f9d8745ce 3f2fdbd9-19b0-41e2-87f3-ebc0f5fa5215 g.chr5:140554104A>G ENST00000231137.3 + 1 1862 c.1688A>G c.(1687-1689)tAc>tGc p.Y563C NM_018940.2 NP_061763.1 Q9Y5E2 PCDB7_HUMAN 563 calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.Y563F(1) NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TTCGTGCTGTACCCGCTGCAG 0.736000 14 32 0 0 1 0 0 SNAP47 116841 broad.mit.edu 37 1 227935845 227935845 + Silent SNP G G A rs139457264 TCGA-V1-A8MU-01A-11D-A377-08 TCGA-V1-A8MU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 942a31bd-5417-43df-bc54-b74f9d8745ce 3f2fdbd9-19b0-41e2-87f3-ebc0f5fa5215 g.chr1:227935845G>A ENST00000366759.4 + 2 957 c.543G>A c.(541-543)acG>acA p.T181T SNAP47_ENST00000315781.5_Silent_p.T181T|SNAP47_ENST00000366760.1_Intron NM_053052.3 NP_444280.2 Q5SQN1 SNP47_HUMAN synaptosomal-associated protein, 47kDa 181 t-SNARE coiled-coil homology 1. endomembrane system|membrane|perinuclear region of cytoplasm endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 17 TGGAGGACACGGCGAGGGTCC 0.652000 6 24 0 0 1 0 0 PTCHD3 374308 broad.mit.edu 37 10 27702370 27702370 + Silent SNP G G A TCGA-V1-A8MU-01A-11D-A377-08 TCGA-V1-A8MU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 942a31bd-5417-43df-bc54-b74f9d8745ce 3f2fdbd9-19b0-41e2-87f3-ebc0f5fa5215 g.chr10:27702370G>A ENST00000438700.3 - 1 927 c.810C>T c.(808-810)taC>taT p.Y270Y NM_001034842.3 NP_001030014.2 Q3KNS1 PTHD3_HUMAN patched domain containing 3 270 spermatid development integral to membrane hedgehog receptor activity p.Y270Y(1) NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 55 CCTGCCAGGCGTACAGGATCG 0.627000 7 21 0 0 1 0 0 MUC7 4589 broad.mit.edu 37 4 71346978 71346978 + Missense_Mutation SNP T T C TCGA-V1-A8MU-01A-11D-A377-08 TCGA-V1-A8MU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 942a31bd-5417-43df-bc54-b74f9d8745ce 3f2fdbd9-19b0-41e2-87f3-ebc0f5fa5215 g.chr4:71346978T>C ENST00000413702.1 + 4 805 c.517T>C c.(517-519)Tct>Cct p.S173P MUC7_ENST00000304887.5_Missense_Mutation_p.S173P|MUC7_ENST00000514512.1_3'UTR|MUC7_ENST00000456088.1_Missense_Mutation_p.S173P NM_001145006.1 NP_001138478.1 Q8TAX7 MUC7_HUMAN mucin 7, secreted 173 Thr-rich. extracellular region protein binding p.S173P(3) central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 Lung(101;0.211) ACCCACACCTTCTGCAACTAC 0.522000 4 85 0 0 1 0 0 EHHADH 1962 broad.mit.edu 37 3 184922509 184922509 + Frame_Shift_Del DEL G G - TCGA-V1-A8MU-01A-11D-A377-08 TCGA-V1-A8MU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 942a31bd-5417-43df-bc54-b74f9d8745ce 3f2fdbd9-19b0-41e2-87f3-ebc0f5fa5215 g.chr3:184922509delG ENST00000231887.3 - 6 680 c.605delC c.(604-606)cafs p.P202fs EHHADH_ENST00000456310.1_Frame_Shift_Del_p.P106fs NM_001166415.1|NM_001966.3 NP_001159887.1|NP_001957.2 Q08426 ECHP_HUMAN enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase 202 Enoyl-CoA hydratase / isomerase. peroxisome 3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3) 24 all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247) Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21) NADH(DB00157) GCTCTGAATTGGCTTGTTGCA 0.468 13 79 --- --- --- --- KMT2A 4297 broad.mit.edu 37 11 118344075 118344076 + Frame_Shift_Ins INS - - A rs11552439 TCGA-V1-A8MU-01A-11D-A377-08 TCGA-V1-A8MU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 942a31bd-5417-43df-bc54-b74f9d8745ce 3f2fdbd9-19b0-41e2-87f3-ebc0f5fa5215 g.chr11:118344075_118344076insA ENST00000534358.1 + 3 2224_2225 c.2201_2202insA c.(2200-2202)aaafs p.K734fs KMT2A_ENST00000389506.5_Frame_Shift_Ins_p.K734fs|KMT2A_ENST00000354520.4_Frame_Shift_Ins_p.K734fs NM_001197104.1|NM_005933.3 NP_001184033.1|NP_005924.2 lysine (K)-specific methyltransferase 2A GTATCCAATAGAAAAAGGAAAA 0.406 14 47 --- --- --- --- IKBIP 121457 broad.mit.edu 37 12 99007629 99007635 + Frame_Shift_Del DEL AGCTTAG AGCTTAG - TCGA-V1-A8MU-01A-11D-A377-08 TCGA-V1-A8MU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 942a31bd-5417-43df-bc54-b74f9d8745ce 3f2fdbd9-19b0-41e2-87f3-ebc0f5fa5215 g.chr12:99007629_99007635delAGCTTAG ENST00000342502.2 - 3 1192_1198 c.781_787delCTAAGCT c.(781-789)tafs p.LSL261fs IKBIP_ENST00000393042.3_3'UTR|IKBIP_ENST00000420861.1_Frame_Shift_Del_p.LSL155fs NM_201612.2 NP_963906.1 Q70UQ0 IKIP_HUMAN IKBKB interacting protein 261 induction of apoptosis|response to X-ray endoplasmic reticulum membrane|integral to membrane protein binding NS(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(2) 6 TCACCTTCTAAGCTTAGAAATCTATCT 0.377 17 47 --- --- --- --- RRN3P2 0 broad.mit.edu 37 16 29113498 29113498 + RNA DEL T T - rs11366120 TCGA-V1-A8MU-01A-11D-A377-08 TCGA-V1-A8MU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 942a31bd-5417-43df-bc54-b74f9d8745ce 3f2fdbd9-19b0-41e2-87f3-ebc0f5fa5215 g.chr16:29113498delT ENST00000564580.1 + 0 1360 AGGAGGTGGAttttttttttc 0.542 4 8 --- --- --- --- LLGL1 3996 broad.mit.edu 37 17 18138412 18138413 + Frame_Shift_Ins INS - - C TCGA-V1-A8MU-01A-11D-A377-08 TCGA-V1-A8MU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 942a31bd-5417-43df-bc54-b74f9d8745ce 3f2fdbd9-19b0-41e2-87f3-ebc0f5fa5215 g.chr17:18138412_18138413insC ENST00000316843.4 + 10 1166_1167 c.1070_1071insC c.(1069-1071)gccfs p.A357fs NM_004140.3 NP_004131.3 Q15334 L2GL1_HUMAN lethal giant larvae homolog 1 (Drosophila) 357 cortical actin cytoskeleton organization|exocytosis|protein complex assembly cortical actin cytoskeleton protein kinase binding|structural molecule activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 21 all_neural(463;0.228) GAATTTGATGACCCCCAGGCCC 0.658 16 26 --- --- --- --- TBC1D3P2 0 broad.mit.edu 37 17 60347260 60347260 + RNA DEL T T - rs71816198 TCGA-V1-A8MU-01A-11D-A377-08 TCGA-V1-A8MU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 942a31bd-5417-43df-bc54-b74f9d8745ce 3f2fdbd9-19b0-41e2-87f3-ebc0f5fa5215 g.chr17:60347260delT ENST00000581291.1 - 0 581 breast(2)|kidney(1)|lung(2) 5 CTCTGAATGATTTTTTTTTTT 0.448 3 3 --- --- --- --- ERN1 2081 broad.mit.edu 37 17 62207360 62207362 + In_Frame_Del DEL CAG CAG - TCGA-V1-A8MU-01A-11D-A377-08 TCGA-V1-A8MU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 942a31bd-5417-43df-bc54-b74f9d8745ce 3f2fdbd9-19b0-41e2-87f3-ebc0f5fa5215 g.chr17:62207360_62207362delCAG ENST00000433197.2 - 1 123_125 c.28_30delCTG c.(28-30)del p.L10del ERN1_ENST00000606895.1_In_Frame_Del_p.L10del NM_001433.3 NP_001424.3 O75460 ERN1_HUMAN endoplasmic reticulum to nucleus signaling 1 10 activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to endoplasmic reticulum membrane ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1) 9 gcagcagcgtcagcagcagcagc 0.793 2 4 --- --- --- ---