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 SPTA1 6708 broad.mit.edu 37 1 158626393 158626393 + Missense_Mutation SNP G G C TCGA-EJ-5532-01A-01D-1576-08 TCGA-EJ-5532-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64b492d0-73c0-4de0-bad1-5ef62275b035 d441d979-16c2-4638-a963-550f1bffd4e8 g.chr1:158626393G>C ENST00000368147.4 - 20 3039 c.2859C>G c.(2857-2859)gaC>gaG p.D953E NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton p.D953E(1) NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) CTTTCATACTGTCTCCAAATG 0.413 71 181 --- --- --- --- ASTN1 460 broad.mit.edu 37 1 177001717 177001717 + Missense_Mutation SNP G G C TCGA-EJ-5532-01A-01D-1576-08 TCGA-EJ-5532-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64b492d0-73c0-4de0-bad1-5ef62275b035 d441d979-16c2-4638-a963-550f1bffd4e8 g.chr1:177001717G>C ENST00000367654.3 - 3 951 c.740C>G c.(739-741)aCt>aGt p.T247S ASTN1_ENST00000367657.3_Missense_Mutation_p.T247S|ASTN1_ENST00000361833.2_Missense_Mutation_p.T247S|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Missense_Mutation_p.T247S NM_004319.1 NP_004310.1 O14525 ASTN1_HUMAN astrotactin 1 cell migration|neuron cell-cell adhesion integral to membrane p.T247S(1) NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3) 153 GCGCAGATCAGTGATGTCATA 0.622 18 106 --- --- --- --- UQCRC1 7384 broad.mit.edu 37 3 48638151 48638151 + Missense_Mutation SNP C C T TCGA-EJ-5532-01A-01D-1576-08 TCGA-EJ-5532-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64b492d0-73c0-4de0-bad1-5ef62275b035 d441d979-16c2-4638-a963-550f1bffd4e8 g.chr3:48638151C>T ENST00000203407.5 - 9 1505 c.1089G>A c.(1087-1089)atG>atA p.M363I NM_003365.2 NP_003356.2 P31930 QCR1_HUMAN ubiquinol-cytochrome c reductase core protein I 363 aerobic respiration|proteolysis metalloendopeptidase activity|ubiquinol-cytochrome-c reductase activity|zinc ion binding p.M363I(1) breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1) 16 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621) Atovaquone(DB01117) CATCGATTTTCATTCGGTCAC 0.542 14 92 --- --- --- --- PPARGC1B 133522 broad.mit.edu 37 5 149212486 149212486 + Missense_Mutation SNP A A T TCGA-EJ-5532-01A-01D-1576-08 TCGA-EJ-5532-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64b492d0-73c0-4de0-bad1-5ef62275b035 d441d979-16c2-4638-a963-550f1bffd4e8 g.chr5:149212486A>T ENST00000309241.5 + 5 882 c.850A>T c.(850-852)Atg>Ttg p.M284L PPARGC1B_ENST00000360453.4_Missense_Mutation_p.M245L|PPARGC1B_ENST00000403750.1_Missense_Mutation_p.M220L|PPARGC1B_ENST00000394320.3_Missense_Mutation_p.M284L NM_133263.3 NP_573570.3 Q86YN6 PRGC2_HUMAN peroxisome proliferator-activated receptor gamma, coactivator 1 beta 284 estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter mediator complex AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity p.M284L(2) NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1) 30 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) CCAGGAAGACATGCAGGCGAT 0.672 31 87 --- --- --- --- SLC26A2 1836 broad.mit.edu 37 5 149360521 149360521 + Silent SNP T T A TCGA-EJ-5532-01A-01D-1576-08 TCGA-EJ-5532-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64b492d0-73c0-4de0-bad1-5ef62275b035 d441d979-16c2-4638-a963-550f1bffd4e8 g.chr5:149360521T>A ENST00000286298.4 + 3 1633 c.1365T>A c.(1363-1365)ctT>ctA p.L455L NM_000112.3 NP_000103.2 P50443 S26A2_HUMAN solute carrier family 26 (anion exchanger), member 2 455 integral to plasma membrane|membrane fraction secondary active sulfate transmembrane transporter activity p.L455L(1) NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1) 18 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) ATACTCAGCTTTCTGGTGTGG 0.418 39 92 --- --- --- --- NKAPL 222698 broad.mit.edu 37 6 28227527 28227527 + Silent SNP G G A TCGA-EJ-5532-01A-01D-1576-08 TCGA-EJ-5532-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64b492d0-73c0-4de0-bad1-5ef62275b035 d441d979-16c2-4638-a963-550f1bffd4e8 g.chr6:28227527G>A ENST00000343684.3 + 1 430 c.378G>A c.(376-378)gaG>gaA p.E126E NM_001007531.1 NP_001007532.1 Q5M9Q1 NKAPL_HUMAN NFKB activating protein-like 126 p.E126E(1) breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 AGGAGAGAGAGAGGATTGGGG 0.542 38 73 --- --- --- --- WNT2 7472 broad.mit.edu 37 7 116937778 116937778 + Missense_Mutation SNP G G C TCGA-EJ-5532-01A-01D-1576-08 TCGA-EJ-5532-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64b492d0-73c0-4de0-bad1-5ef62275b035 d441d979-16c2-4638-a963-550f1bffd4e8 g.chr7:116937778G>C ENST00000265441.3 - 4 1040 c.741C>G c.(739-741)aaC>aaG p.N247K NM_003391.2 NP_003382.1 P09544 WNT2_HUMAN wingless-type MMTV integration site family member 2 247 atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway cytoplasm|extracellular space|proteinaceous extracellular matrix cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity p.N247K(1) breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2) 31 all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109) STAD - Stomach adenocarcinoma(10;0.000512) LUSC - Lung squamous cell carcinoma(290;0.133) TGCCATCCTGGTTCATGACCA 0.498 61 120 --- --- --- --- PRSS58 136541 broad.mit.edu 37 7 141955370 141955370 + Missense_Mutation SNP G G A TCGA-EJ-5532-01A-01D-1576-08 TCGA-EJ-5532-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64b492d0-73c0-4de0-bad1-5ef62275b035 d441d979-16c2-4638-a963-550f1bffd4e8 g.chr7:141955370G>A ENST00000552471.1 - 2 483 c.164C>T c.(163-165)gCa>gTa p.A55V PRSS58_ENST00000547058.2_Missense_Mutation_p.A55V Q8IYP2 PRS58_HUMAN protease, serine, 58 55 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity p.A55V(2) kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2) 19 ATTGCAGTGTGCAGCTGTGAT 0.522 33 78 --- --- --- --- C10orf71 118461 broad.mit.edu 37 10 50531524 50531524 + Missense_Mutation SNP C C A TCGA-EJ-5532-01A-01D-1576-08 TCGA-EJ-5532-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64b492d0-73c0-4de0-bad1-5ef62275b035 d441d979-16c2-4638-a963-550f1bffd4e8 g.chr10:50531524C>A ENST00000374144.3 + 3 1222 c.934C>A c.(934-936)Cta>Ata p.L312I C10orf71_ENST00000323868.4_Missense_Mutation_p.L312I Q711Q0 CJ071_HUMAN chromosome 10 open reading frame 71 312 p.L312I(2) endometrium(1) 1 CACGACCTTGCTAAGAGAACC 0.577 3 65 --- --- --- --- FOLH1 2346 broad.mit.edu 37 11 49168464 49168464 + Missense_Mutation SNP C C G TCGA-EJ-5532-01A-01D-1576-08 TCGA-EJ-5532-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64b492d0-73c0-4de0-bad1-5ef62275b035 d441d979-16c2-4638-a963-550f1bffd4e8 g.chr11:49168464C>G ENST00000340334.7 - 20 2420 c.2052G>C c.(2050-2052)aaG>aaC p.K684N FOLH1_ENST00000343844.4_Missense_Mutation_p.K391N|FOLH1_ENST00000533034.1_Missense_Mutation_p.K653N|FOLH1_ENST00000256999.2_Missense_Mutation_p.K699N|FOLH1_ENST00000356696.3_Missense_Mutation_p.K668N NM_001193471.1|NM_001193472.1 NP_001180400.1|NP_001180401.1 Q04609 FOLH1_HUMAN folate hydrolase (prostate-specific membrane antigen) 1 699 proteolysis cytoplasm|integral to plasma membrane|membrane fraction|nucleus carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 60 Capromab(DB00089)|L-Glutamic Acid(DB00142) CCCCTGCATACTTGTTGTGGC 0.428 4 205 --- --- --- --- OR4C13 283092 broad.mit.edu 37 11 49974537 49974537 + Missense_Mutation SNP C C T TCGA-EJ-5532-01A-01D-1576-08 TCGA-EJ-5532-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64b492d0-73c0-4de0-bad1-5ef62275b035 d441d979-16c2-4638-a963-550f1bffd4e8 g.chr11:49974537C>T ENST00000555099.1 + 1 595 c.563C>T c.(562-564)aCt>aTt p.T188I NM_001001955.2 NP_001001955.2 Q8NGP0 OR4CD_HUMAN olfactory receptor, family 4, subfamily C, member 13 188 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.T188I(1) autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 43 CTTGCCTGCACTAATACCCAC 0.438 73 202 --- --- --- --- MYO7A 4647 broad.mit.edu 37 11 76868351 76868351 + Silent SNP G G A TCGA-EJ-5532-01A-01D-1576-08 TCGA-EJ-5532-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64b492d0-73c0-4de0-bad1-5ef62275b035 d441d979-16c2-4638-a963-550f1bffd4e8 g.chr11:76868351G>A ENST00000409709.3 + 8 1034 c.762G>A c.(760-762)gtG>gtA p.V254V MYO7A_ENST00000409619.2_Silent_p.V243V|MYO7A_ENST00000458637.2_Silent_p.V254V|MYO7A_ENST00000409893.1_Silent_p.V254V NM_000260.3 NP_000251.3 Q13402 MYO7A_HUMAN myosin VIIA 254 Myosin head-like. actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse actin binding|ATP binding|calmodulin binding|microfilament motor activity p.V254V(1) NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 ACTACCACGTGTTCTACTGCA 0.582 11 14 --- --- --- --- VWF 7450 broad.mit.edu 37 12 6172165 6172165 + Silent SNP C C T TCGA-EJ-5532-01A-01D-1576-08 TCGA-EJ-5532-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64b492d0-73c0-4de0-bad1-5ef62275b035 d441d979-16c2-4638-a963-550f1bffd4e8 g.chr12:6172165C>T ENST00000261405.5 - 13 1742 c.1488G>A c.(1486-1488)gaG>gaA p.E496E NM_000552.3 NP_000543 P04275 VWF_HUMAN von Willebrand factor 496 VWFD 2. blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding p.E496E(1) NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5) 129 Antihemophilic Factor(DB00025) TCTGCAGGTCCTCCCCGTAGC 0.657 OREG0021618 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 21 --- --- --- --- NAA25 80018 broad.mit.edu 37 12 112516059 112516059 + Silent SNP A A G TCGA-EJ-5532-01A-01D-1576-08 TCGA-EJ-5532-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64b492d0-73c0-4de0-bad1-5ef62275b035 d441d979-16c2-4638-a963-550f1bffd4e8 g.chr12:112516059A>G ENST00000261745.4 - 7 845 c.597T>C c.(595-597)taT>taC p.Y199Y NM_024953.3 NP_079229.2 Q14CX7 NAA25_HUMAN N(alpha)-acetyltransferase 25, NatB auxiliary subunit 199 cytoplasm protein binding p.Y199Y(1) autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 46 GGATCATATAATAAAGTTCAA 0.299 7 163 --- --- --- --- FBN1 2200 broad.mit.edu 37 15 48736776 48736776 + Missense_Mutation SNP C C A TCGA-EJ-5532-01A-01D-1576-08 TCGA-EJ-5532-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64b492d0-73c0-4de0-bad1-5ef62275b035 d441d979-16c2-4638-a963-550f1bffd4e8 g.chr15:48736776C>A ENST00000316623.5 - 49 6454 c.5999G>T c.(5998-6000)tGc>tTc p.C2000F NM_000138.4 NP_000129 P35555 FBN1_HUMAN fibrillin 1 2000 EGF-like 34; calcium-binding. heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding p.C2000F(1) NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 139 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) TCCAGGTGGGCAAATGCATCT 0.433 58 118 --- --- --- --- DMXL2 23312 broad.mit.edu 37 15 51855614 51855614 + Nonsense_Mutation SNP C C T TCGA-EJ-5532-01A-01D-1576-08 TCGA-EJ-5532-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64b492d0-73c0-4de0-bad1-5ef62275b035 d441d979-16c2-4638-a963-550f1bffd4e8 g.chr15:51855614C>T ENST00000251076.5 - 6 818 c.531G>A c.(529-531)tgG>tgA p.W177* DMXL2_ENST00000543779.2_Nonsense_Mutation_p.W177*|DMXL2_ENST00000560421.1_5'UTR|DMXL2_ENST00000449909.3_Nonsense_Mutation_p.W177* NM_001174116.1|NM_015263.3 NP_001167587.1|NP_056078.2 Q8TDJ6 DMXL2_HUMAN Dmx-like 2 177 cell junction|synaptic vesicle membrane Rab GTPase binding p.W177*(1) breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 101 all cancers(107;0.00494) CATCAGGAGACCATTCCATCA 0.308 3 72 --- --- --- --- USP22 23326 broad.mit.edu 37 17 20910262 20910262 + Silent SNP G G A TCGA-EJ-5532-01A-01D-1576-08 TCGA-EJ-5532-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64b492d0-73c0-4de0-bad1-5ef62275b035 d441d979-16c2-4638-a963-550f1bffd4e8 g.chr17:20910262G>A ENST00000261497.4 - 10 1472 c.1269C>T c.(1267-1269)acC>acT p.T423T USP22_ENST00000455117.2_Intron|USP22_ENST00000537526.2_Silent_p.T411T NM_015276.1 NP_056091.1 Q9UPT9 UBP22_HUMAN ubiquitin specific peptidase 22 423 cell cycle|embryo development|histone deubiquitination|histone H4 acetylation|histone ubiquitination|positive regulation of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process SAGA complex ligand-dependent nuclear receptor transcription coactivator activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding p.T645T(1) endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1) 15 ACACATACGTGGTGATCTTCC 0.547 4 25 --- --- --- --- ST6GALNAC2 10610 broad.mit.edu 37 17 74562331 74562331 + Missense_Mutation SNP G G A TCGA-EJ-5532-01A-01D-1576-08 TCGA-EJ-5532-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64b492d0-73c0-4de0-bad1-5ef62275b035 d441d979-16c2-4638-a963-550f1bffd4e8 g.chr17:74562331G>A ENST00000225276.5 - 9 1299 c.980C>T c.(979-981)aCa>aTa p.T327I NM_006456.2 NP_006447.2 Q9UJ37 SIA7B_HUMAN ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2 327 protein glycosylation integral to Golgi membrane sialyltransferase activity p.T327I(1) NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 11 GTAGTTGCTTGTGATGAATCC 0.448 78 155 --- --- --- --- LILRB1 10859 broad.mit.edu 37 19 55148263 55148263 + Silent SNP T T G TCGA-EJ-5532-01A-01D-1576-08 TCGA-EJ-5532-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64b492d0-73c0-4de0-bad1-5ef62275b035 d441d979-16c2-4638-a963-550f1bffd4e8 g.chr19:55148263T>G ENST00000396331.1 + 16 2244 c.1887T>G c.(1885-1887)ccT>ccG p.P629P LILRB1_ENST00000427581.2_Silent_p.P680P|LILRB1_ENST00000324602.7_Silent_p.P631P|AC009892.10_ENST00000456337.1_Intron|LILRB1_ENST00000448689.1_3'UTR|LILRB1_ENST00000418536.2_Silent_p.P613P|LILRB1_ENST00000396332.4_Silent_p.P630P|LILRB1_ENST00000434867.2_Silent_p.P629P|LILRB1_ENST00000396327.3_Silent_p.P630P|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000396315.1_Silent_p.P631P|LILRB1_ENST00000396321.2_Silent_p.P629P|LILRB1_ENST00000396317.1_Silent_p.P613P NM_006669.3 NP_006660.3 Q8NHL6 LIRB1_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 629 regulation of immune response|response to virus integral to membrane|plasma membrane protein phosphatase 1 binding|receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 74 GBM - Glioblastoma multiforme(193;0.0188) CAACTGAGCCTCCTCCATCCC 0.652 HNSCC(37;0.09) 4 65 --- --- --- --- FLG2 388698 broad.mit.edu 37 1 152329411 152329415 + Frame_Shift_Del DEL TTGCT TTGCT - TCGA-EJ-5532-01A-01D-1576-08 TCGA-EJ-5532-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64b492d0-73c0-4de0-bad1-5ef62275b035 d441d979-16c2-4638-a963-550f1bffd4e8 g.chr1:152329411_152329415delTTGCT ENST00000388718.5 - 3 919_923 c.847_851delAGCAA c.(847-852)agcaatfs p.SN283fs FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 283 Ser-rich. calcium ion binding|structural molecule activity NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CCCACTTGAATTGCTATAACCACAT 0.429 78 272 --- --- --- ---