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 ZNF311 282890 broad.mit.edu 37 6 28963545 28963545 + Missense_Mutation SNP C C T TCGA-WB-A80N-01A-11D-A35I-08 TCGA-WB-A80N-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e276efa-a716-467d-9ef1-aeaae0a1e1af 9ad87214-6a8b-4246-a8b5-151dcef4fbd7 g.chr6:28963545C>T ENST00000377179.3 - 7 1746 c.1234G>A c.(1234-1236)Gaa>Aaa p.E412K ZNF311_ENST00000483450.1_5'UTR NM_001010877.2 NP_001010877.2 Q5JNZ3 ZN311_HUMAN zinc finger protein 311 412 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(2) 28 TAAGGTCGTTCCCCAGTGTGG 0.512000 9 71 0 0 1 0 0 HRAS 3265 broad.mit.edu 37 11 533874 533874 + Missense_Mutation SNP T T A rs121913233 TCGA-WB-A80N-01A-11D-A35I-08 TCGA-WB-A80N-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e276efa-a716-467d-9ef1-aeaae0a1e1af 9ad87214-6a8b-4246-a8b5-151dcef4fbd7 g.chr11:533874T>A ENST00000417302.1 - 3 369 c.182A>T c.(181-183)cAg>cTg p.Q61L HRAS_ENST00000451590.1_Missense_Mutation_p.Q61L|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61L|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61L|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61L NM_176795.3 NP_789765.1 P01112 RASH_HUMAN Harvey rat sarcoma viral oncogene homolog 61 Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines). activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission cytosol|Golgi membrane|plasma membrane GTP binding|GTPase activity|protein C-terminus binding p.Q61R(136)|p.Q61L(117)|p.Q61P(3) adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225) 901 all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) Sulindac(DB00605) GTACTCCTCCTGGCCGGCGGT 0.597000 Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG) 6 Mis """infrequent sarcomas, rare other types""" """rhadomyosarcoma, ganglioneuroblastoma, bladder""" Costello syndrome HNSCC(11;0.0054) 23 70 0 0 1 0 0 FAM175B 23172 broad.mit.edu 37 10 126523309 126523309 + Silent SNP T T C TCGA-WB-A80N-01A-11D-A35I-08 TCGA-WB-A80N-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e276efa-a716-467d-9ef1-aeaae0a1e1af 9ad87214-6a8b-4246-a8b5-151dcef4fbd7 g.chr10:126523309T>C ENST00000298492.5 + 9 1062 c.1017T>C c.(1015-1017)tcT>tcC p.S339S NM_032182.3 NP_115558.3 Q15018 F175B_HUMAN family with sequence similarity 175, member B 339 BRISC complex polyubiquitin binding NS(1) 1 CTGTGGGCTCTTCCAATTATG 0.512000 10 23 0 0 1 0 0 SLC35G3 146861 broad.mit.edu 37 17 33520392 33520392 + Missense_Mutation SNP G G C TCGA-WB-A80N-01A-11D-A35I-08 TCGA-WB-A80N-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e276efa-a716-467d-9ef1-aeaae0a1e1af 9ad87214-6a8b-4246-a8b5-151dcef4fbd7 g.chr17:33520392G>C ENST00000297307.5 - 1 1020 c.935C>G c.(934-936)gCg>gGg p.A312G NM_152462.2 NP_689675.1 Q8N808 AMAC1_HUMAN solute carrier family 35, member G3 312 DUF6 2. integral to membrane p.A312G(4) AACCCCTGCCGCCACGATGTC 0.567000 4 77 0 0 1 0 0 HOXC10 3226 broad.mit.edu 37 12 54379494 54379494 + Missense_Mutation SNP G G A TCGA-WB-A80N-01A-11D-A35I-08 TCGA-WB-A80N-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e276efa-a716-467d-9ef1-aeaae0a1e1af 9ad87214-6a8b-4246-a8b5-151dcef4fbd7 g.chr12:54379494G>A ENST00000303460.4 + 1 525 c.451G>A c.(451-453)Gcc>Acc p.A151T NM_017409.3 NP_059105.2 Q9NYD6 HXC10_HUMAN homeobox C10 151 positive regulation of cell proliferation nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|large_intestine(3)|lung(14)|pancreas(1) 20 CTACTACCGCGCCAGCCCGAG 0.677000 3 40 0 0 1 0 0 NPIPB6 728741 broad.mit.edu 37 16 28354353 28354353 + Missense_Mutation SNP T T G rs1794256 by1000genomes TCGA-WB-A80N-01A-11D-A35I-08 TCGA-WB-A80N-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e276efa-a716-467d-9ef1-aeaae0a1e1af 9ad87214-6a8b-4246-a8b5-151dcef4fbd7 g.chr16:28354353T>G ENST00000532254.1 - 7 1538 c.853A>C c.(853-855)Act>Cct p.T285P NPIPB6_ENST00000533640.1_Missense_Mutation_p.T267P nuclear pore complex interacting protein family, member B6 p.T285P(4) AGACACTCAGTAGGTGTCTTG 0.507000 4 40 0 0 1 0 0 TTC9C 283237 broad.mit.edu 37 11 62502998 62502998 + Missense_Mutation SNP G G A TCGA-WB-A80N-01A-11D-A35I-08 TCGA-WB-A80N-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e276efa-a716-467d-9ef1-aeaae0a1e1af 9ad87214-6a8b-4246-a8b5-151dcef4fbd7 g.chr11:62502998G>A ENST00000316461.4 + 2 693 c.383G>A c.(382-384)cGc>cAc p.R128H TTC9C_ENST00000513247.2_3'UTR|TTC9C_ENST00000532583.1_Missense_Mutation_p.R128H NM_173810.3 NP_776171.1 Q8N5M4 TTC9C_HUMAN tetratricopeptide repeat domain 9C 128 binding breast(1)|endometrium(1)|lung(2)|ovary(1)|pancreas(1) 6 GACCAGGCCCGCCACTACCTC 0.512000 3 25 0 0 1 0 0 DCLK1 9201 broad.mit.edu 37 13 36385001 36385001 + Silent SNP G G A rs144489471 byFrequency TCGA-WB-A80N-01A-11D-A35I-08 TCGA-WB-A80N-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e276efa-a716-467d-9ef1-aeaae0a1e1af 9ad87214-6a8b-4246-a8b5-151dcef4fbd7 g.chr13:36385001G>A ENST00000255448.4 - 12 1870 c.1659C>T c.(1657-1659)taC>taT p.Y553Y DCLK1_ENST00000379893.1_Silent_p.Y246Y|DCLK1_ENST00000360631.3_Silent_p.Y553Y NM_004734.4 NP_004725.1 O15075 DCLK1_HUMAN doublecortin-like kinase 1 553 Protein kinase. cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus integral to plasma membrane ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1) 64 Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638) CTGGAGCCACGTATGTTGGGG 0.478000 4 174 0 0 1 0 0 AHNAK2 113146 broad.mit.edu 37 14 105416378 105416378 + Missense_Mutation SNP G G A TCGA-WB-A80N-01A-11D-A35I-08 TCGA-WB-A80N-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e276efa-a716-467d-9ef1-aeaae0a1e1af 9ad87214-6a8b-4246-a8b5-151dcef4fbd7 g.chr14:105416378G>A ENST00000333244.5 - 7 5529 c.5410C>T c.(5410-5412)Cgg>Tgg p.R1804W AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 1804 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) CCCTCCAGCCGCACACTGTCC 0.622000 5 444 0 0 1 0 0 FOXP1 27086 broad.mit.edu 37 3 71096155 71096155 + Missense_Mutation SNP C C T TCGA-WB-A80N-01A-11D-A35I-08 TCGA-WB-A80N-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e276efa-a716-467d-9ef1-aeaae0a1e1af 9ad87214-6a8b-4246-a8b5-151dcef4fbd7 g.chr3:71096155C>T ENST00000318789.4 - 10 1127 c.602G>A c.(601-603)cGc>cAc p.R201H FOXP1_ENST00000498215.1_Missense_Mutation_p.R201H|FOXP1_ENST00000475937.1_Missense_Mutation_p.R201H|FOXP1_ENST00000472382.1_5'UTR|FOXP1_ENST00000468577.1_Missense_Mutation_p.R201H|FOXP1_ENST00000491238.1_Missense_Mutation_p.R203H|FOXP1_ENST00000484350.1_Missense_Mutation_p.R125H|FOXP1_ENST00000493089.1_Missense_Mutation_p.R201H NM_001244810.1|NM_001244813.1|NM_032682.5 NP_001231739.1|NP_001231742.1|NP_116071.2 Q9H334 FOXP1_HUMAN forkhead box P1 201 Gln-rich. cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209) BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05) AAGGCCTTGGCGCTGCAAAGA 0.527000 T PAX5 ALL 4 184 0 0 1 0 0 NT5C3A 51251 broad.mit.edu 37 7 33057052 33057052 + Missense_Mutation SNP G G A TCGA-WB-A80N-01A-11D-A35I-08 TCGA-WB-A80N-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e276efa-a716-467d-9ef1-aeaae0a1e1af 9ad87214-6a8b-4246-a8b5-151dcef4fbd7 g.chr7:33057052G>A ENST00000409787.1 - 7 603 c.590C>T c.(589-591)aCt>aTt p.T197I NT5C3A_ENST00000405342.1_Splice_Site_p.T197_splice|NT5C3A_ENST00000396152.2_Splice_Site_p.T197_splice|NT5C3A_ENST00000381626.2_Splice_Site_p.T185_splice|NT5C3A_ENST00000409467.1_Splice_Site_p.T185_splice|NT5C3A_ENST00000242210.7_Splice_Site_p.T236_splice|AVL9_ENST00000404479.1_Intron 5'-nucleotidase, cytosolic IIIA TATTCTTACAGTTTCATCAAA 0.294000 26 42 0 0 1 0 0 CDH16 1014 broad.mit.edu 37 16 66942312 66942312 + Silent SNP G G A TCGA-WB-A80N-01A-11D-A35I-08 TCGA-WB-A80N-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e276efa-a716-467d-9ef1-aeaae0a1e1af 9ad87214-6a8b-4246-a8b5-151dcef4fbd7 g.chr16:66942312G>A ENST00000299752.4 - 18 2666 c.2473C>T c.(2473-2475)Ctg>Ttg p.L825L CDH16_ENST00000568632.1_Silent_p.L728L|CDH16_ENST00000565796.1_Silent_p.L786L|CDH16_ENST00000570262.1_Silent_p.L745L|CDH16_ENST00000394055.3_Silent_p.L803L NM_001204744.1|NM_001204745.1|NM_004062.3 NP_001191673.1|NP_001191674.1|NP_004053.1 O75309 CAD16_HUMAN cadherin 16, KSP-cadherin 825 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203) GTCGCCTTCAGGGGCACGCTG 0.592000 14 44 0 0 1 0 0 SMG8 55181 broad.mit.edu 37 17 57288930 57288930 + Missense_Mutation SNP G G T rs142667389 TCGA-WB-A80N-01A-11D-A35I-08 TCGA-WB-A80N-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e276efa-a716-467d-9ef1-aeaae0a1e1af 9ad87214-6a8b-4246-a8b5-151dcef4fbd7 g.chr17:57288930G>T ENST00000543872.2 + 2 1782 c.1518G>T c.(1516-1518)atG>atT p.M506I SMG8_ENST00000578922.1_Missense_Mutation_p.M506I|SMG8_ENST00000300917.5_Missense_Mutation_p.M506I|CTD-2510F5.6_ENST00000577660.1_Intron|SMG8_ENST00000580498.1_Intron Q8ND04 SMG8_HUMAN SMG8 nonsense mediated mRNA decay factor 506 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity protein binding NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1) 33 CTTTACCCATGGCCCACAGTG 0.398000 25 61 3.6726e-16 3.90214e-16 1 1 0 KRI1 65095 broad.mit.edu 37 19 10665833 10665833 + Missense_Mutation SNP G G A TCGA-WB-A80N-01A-11D-A35I-08 TCGA-WB-A80N-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e276efa-a716-467d-9ef1-aeaae0a1e1af 9ad87214-6a8b-4246-a8b5-151dcef4fbd7 g.chr19:10665833G>A ENST00000312962.6 - 18 1748 c.1729C>T c.(1729-1731)Cgg>Tgg p.R577W KRI1_ENST00000361821.5_Missense_Mutation_p.R573W NM_023008.3 NP_075384.3 Q8N9T8 KRI1_HUMAN KRI1 homolog (S. cerevisiae) 577 NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 26 Epithelial(33;9.2e-06)|all cancers(31;3.9e-05) CTGTACGCCCGCTTGTCCCGC 0.632000 4 99 0 0 1 0 0 IP6K1 9807 broad.mit.edu 37 3 49775711 49775711 + Missense_Mutation SNP T T C TCGA-WB-A80N-01A-11D-A35I-08 TCGA-WB-A80N-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e276efa-a716-467d-9ef1-aeaae0a1e1af 9ad87214-6a8b-4246-a8b5-151dcef4fbd7 g.chr3:49775711T>C ENST00000321599.4 - 3 669 c.368A>G c.(367-369)cAc>cGc p.H123R IP6K1_ENST00000460540.1_5'UTR|IP6K1_ENST00000468463.1_Missense_Mutation_p.H123R|IP6K1_ENST00000395238.1_5'UTR NM_001242829.1|NM_153273.3 NP_001229758.1|NP_695005.1 Q92551 IP6K1_HUMAN inositol hexakisphosphate kinase 1 123 phosphatidylinositol phosphorylation cytoplasm|nucleus ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|skin(2) 15 GCCTGACCGGTGCAGGCTCCG 0.552000 4 55 0 0 1 0 0 ERCC3 2071 broad.mit.edu 37 2 128050376 128050376 + Missense_Mutation SNP T T C TCGA-WB-A80N-01A-11D-A35I-08 TCGA-WB-A80N-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e276efa-a716-467d-9ef1-aeaae0a1e1af 9ad87214-6a8b-4246-a8b5-151dcef4fbd7 g.chr2:128050376T>C ENST00000493187.2 - 3 552 c.89A>G c.(88-90)aAa>aGa p.K30R ERCC3_ENST00000285398.2_Missense_Mutation_p.K94R P19447 ERCC3_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 3 94 cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction holo TFIIH complex 3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 31 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.073) TTGGGCATATTTGTAAACTGG 0.473000 """Mis, S""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum 17 43 0 0 1 0 0 FRG1BP 284802 broad.mit.edu 37 20 29628243 29628243 + Missense_Mutation SNP T T C TCGA-WB-A80N-01A-11D-A35I-08 TCGA-WB-A80N-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e276efa-a716-467d-9ef1-aeaae0a1e1af 9ad87214-6a8b-4246-a8b5-151dcef4fbd7 g.chr20:29628243T>C ENST00000278882.3 + 6 625 c.245T>C c.(244-246)tTg>tCg p.L82S FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S|FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S p.L82S(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGGCTTTGTTGGCCTCAAAT 0.363000 4 110 0 0 1 0 0 ZNF709 163051 broad.mit.edu 37 19 12575498 12575498 + Missense_Mutation SNP G G A TCGA-WB-A80N-01A-11D-A35I-08 TCGA-WB-A80N-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e276efa-a716-467d-9ef1-aeaae0a1e1af 9ad87214-6a8b-4246-a8b5-151dcef4fbd7 g.chr19:12575498G>A ENST00000397732.3 - 4 1409 c.1238C>T c.(1237-1239)aCt>aTt p.T413I ZNF709_ENST00000428311.1_Missense_Mutation_p.T413I|CTD-3105H18.18_ENST00000598753.1_Intron NM_152601.3 NP_689814.1 Q8N972 ZN709_HUMAN zinc finger protein 709 413 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.T413I(2) large_intestine(3)|upper_aerodigestive_tract(3) 6 TCCAGTGTGAGTTCTTTCATG 0.418000 5 150 0 0 1 0 0 SIGLEC6 946 broad.mit.edu 37 19 52033997 52033997 + Missense_Mutation SNP C C G TCGA-WB-A80N-01A-11D-A35I-08 TCGA-WB-A80N-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e276efa-a716-467d-9ef1-aeaae0a1e1af 9ad87214-6a8b-4246-a8b5-151dcef4fbd7 g.chr19:52033997C>G ENST00000346477.3 - 3 712 c.644G>C c.(643-645)tGt>tCt p.C215S SIGLEC6_ENST00000425629.3_Missense_Mutation_p.C215S|SIGLEC6_ENST00000391797.3_Missense_Mutation_p.C204S|SIGLEC6_ENST00000359982.4_Missense_Mutation_p.C215S|SIGLEC6_ENST00000343300.4_Missense_Mutation_p.C215S|SIGLEC6_ENST00000436458.1_Missense_Mutation_p.C179S NM_198845.4 NP_942142.3 O43699 SIGL6_HUMAN sialic acid binding Ig-like lectin 6 215 Ig-like C2-type 1. cell adhesion|cell-cell signaling cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1) 28 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165) CGTCACCTGACAGGTGAGGTT 0.652000 15 34 0 0 1 0 0 EPB42 2038 broad.mit.edu 37 15 43512971 43512971 + Missense_Mutation SNP G G A TCGA-WB-A80N-01A-11D-A35I-08 TCGA-WB-A80N-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e276efa-a716-467d-9ef1-aeaae0a1e1af 9ad87214-6a8b-4246-a8b5-151dcef4fbd7 g.chr15:43512971G>A ENST00000300215.3 - 1 510 c.53C>T c.(52-54)gCa>gTa p.A18V EPB42_ENST00000441366.2_Intron|EPB42_ENST00000540029.1_Intron P16452 EPB42_HUMAN erythrocyte membrane protein band 4.2 0 erythrocyte maturation|peptide cross-linking|regulation of cell shape cytoplasm|cytoskeleton|plasma membrane ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;8.7e-07) TGCGGGGGCTGCATACAGTCC 0.582000 4 153 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100683180 100683180 + Missense_Mutation SNP G G A TCGA-WB-A80N-01A-11D-A35I-08 TCGA-WB-A80N-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e276efa-a716-467d-9ef1-aeaae0a1e1af 9ad87214-6a8b-4246-a8b5-151dcef4fbd7 g.chr7:100683180G>A ENST00000306151.4 + 3 8547 c.8483G>A c.(8482-8484)gGc>gAc p.G2828D NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 2828 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) TCTGAGGCTGGCACCCTTTCA 0.498000 5 388 0 0 1 0 0 SORBS2 8470 broad.mit.edu 37 4 186544636 186544636 + Silent SNP G G A TCGA-WB-A80N-01A-11D-A35I-08 TCGA-WB-A80N-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e276efa-a716-467d-9ef1-aeaae0a1e1af 9ad87214-6a8b-4246-a8b5-151dcef4fbd7 g.chr4:186544636G>A ENST00000431808.1 - 14 2498 c.1935C>T c.(1933-1935)caC>caT p.H645H SORBS2_ENST00000355634.5_Silent_p.H745H|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000418609.1_Silent_p.H549H|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000284776.7_Silent_p.H645H|SORBS2_ENST00000498125.1_Intron O94875 SRBS2_HUMAN sorbin and SH3 domain containing 2 645 His-rich. actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding p.H645H(1) endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1) 53 all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244) OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205) ggtggtggtggtgatggtggt 0.527000 4 63 0 0 1 0 0 SLC35G3 146861 broad.mit.edu 37 17 33520358 33520358 + Silent SNP A A G rs74740601 by1000genomes TCGA-WB-A80N-01A-11D-A35I-08 TCGA-WB-A80N-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e276efa-a716-467d-9ef1-aeaae0a1e1af 9ad87214-6a8b-4246-a8b5-151dcef4fbd7 g.chr17:33520358A>G ENST00000297307.5 - 1 1054 c.969T>C c.(967-969)atT>atC p.I323I NM_152462.2 NP_689675.1 Q8N808 AMAC1_HUMAN solute carrier family 35, member G3 323 DUF6 2. integral to membrane p.I323I(1) TCTGGGCTGTAATGATGGCAA 0.547000 4 64 0 0 1 0 0 IGKV1D-16 28901 broad.mit.edu 37 2 90139477 90139477 + RNA SNP G G A rs2848291 by1000genomes TCGA-WB-A80N-01A-11D-A35I-08 TCGA-WB-A80N-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e276efa-a716-467d-9ef1-aeaae0a1e1af 9ad87214-6a8b-4246-a8b5-151dcef4fbd7 g.chr2:90139477G>A ENST00000492446.1 + 0 275 GTCCCATCAAGGTTCAGCGGC 0.483000 4 178 0 0 1 0 0 FOXP2 93986 broad.mit.edu 37 7 114269973 114269973 + Silent SNP A A G rs149757187 TCGA-WB-A80N-01A-11D-A35I-08 TCGA-WB-A80N-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e276efa-a716-467d-9ef1-aeaae0a1e1af 9ad87214-6a8b-4246-a8b5-151dcef4fbd7 g.chr7:114269973A>G ENST00000393500.3 + 11 1105 c.285A>G c.(283-285)caA>caG p.Q95Q FOXP2_ENST00000393489.3_Silent_p.Q78Q|FOXP2_ENST00000393491.3_Silent_p.Q78Q|FOXP2_ENST00000378237.3_Silent_p.Q170Q|FOXP2_ENST00000408937.3_Silent_p.Q195Q|FOXP2_ENST00000393494.2_Silent_p.Q170Q|FOXP2_ENST00000350908.4_Silent_p.Q170Q|FOXP2_ENST00000390668.3_Silent_p.Q194Q|FOXP2_ENST00000360232.4_Silent_p.Q170Q|FOXP2_ENST00000403559.4_Silent_p.Q187Q|FOXP2_ENST00000393498.2_Silent_p.Q150Q|AC020606.1_ENST00000580664.1_RNA O15409 FOXP2_HUMAN forkhead box P2 170 Gln-rich. camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding p.Q195Q(1) breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 52 agcagcagcaacaacaacaac 0.502000 4 68 0 0 1 0 0 IL21 59067 broad.mit.edu 37 4 123542015 123542015 + Missense_Mutation SNP T T G TCGA-WB-A80N-01A-11D-A35I-08 TCGA-WB-A80N-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e276efa-a716-467d-9ef1-aeaae0a1e1af 9ad87214-6a8b-4246-a8b5-151dcef4fbd7 g.chr4:123542015T>G ENST00000264497.3 - 1 209 c.152A>C c.(151-153)aAt>aCt p.N51T IL21-AS1_ENST00000417927.1_RNA NM_001207006.2|NM_021803.3 NP_001193935.1|NP_068575.1 Q9HBE4 IL21_HUMAN interleukin 21 44 cell maturation|immune response|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-17 production|positive regulation of T cell proliferation|signal transduction extracellular space cytokine activity|interleukin-2 receptor binding NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(3) 8 ATTCACATAATTTTTCAGCTG 0.338000 36 47 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414340 20414340 + Silent SNP G G A TCGA-WB-A80N-01A-11D-A35I-08 TCGA-WB-A80N-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e276efa-a716-467d-9ef1-aeaae0a1e1af 9ad87214-6a8b-4246-a8b5-151dcef4fbd7 g.chr9:20414340G>A ENST00000380338.4 - 5 790 c.504C>T c.(502-504)agC>agT p.S168S MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 168 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S168S(5) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctgctactgctgc 0.537000 T MLL ALL 4 64 0 0 1 0 0 LRRN1 57633 broad.mit.edu 37 3 3888472 3888472 + Missense_Mutation SNP G G T TCGA-WB-A80N-01A-11D-A35I-08 TCGA-WB-A80N-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e276efa-a716-467d-9ef1-aeaae0a1e1af 9ad87214-6a8b-4246-a8b5-151dcef4fbd7 g.chr3:3888472G>T ENST00000319331.3 + 2 2908 c.2147G>T c.(2146-2148)tGg>tTg p.W716L SUMF1_ENST00000534863.1_Intron NM_020873.5 NP_065924.3 Q6UXK5 LRRN1_HUMAN leucine rich repeat neuronal 1 716 integral to membrane NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2) 26 Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617) TATTACATGTGGTAACTCAGA 0.423000 4 23 0.00024832 0.00024832 1 1 0 OBSCN 84033 broad.mit.edu 37 1 228526563 228526563 + Frame_Shift_Del DEL C C - TCGA-WB-A80N-01A-11D-A35I-08 TCGA-WB-A80N-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e276efa-a716-467d-9ef1-aeaae0a1e1af 9ad87214-6a8b-4246-a8b5-151dcef4fbd7 g.chr1:228526563delC ENST00000570156.2 + 80 20039 c.19965delC c.(19963-19965)atfs p.I6655fs OBSCN_ENST00000422127.1_Frame_Shift_Del_p.I5698fs|OBSCN_ENST00000366707.4_Frame_Shift_Del_p.I3332fs|OBSCN_ENST00000284548.11_Frame_Shift_Del_p.I5698fs|OBSCN_ENST00000366709.4_Frame_Shift_Del_p.I2817fs NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 5698 Protein kinase 1. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) GCTCTGTGATCCAGGAGCTGC 0.672 2 4 --- --- --- --- LOC730100 730100 broad.mit.edu 37 2 51737448 51737452 + RNA DEL AGGTA AGGTA - TCGA-WB-A80N-01A-11D-A35I-08 TCGA-WB-A80N-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e276efa-a716-467d-9ef1-aeaae0a1e1af 9ad87214-6a8b-4246-a8b5-151dcef4fbd7 g.chr2:51737448_51737452delAGGTA ENST00000440698.1 + 0 694 GTCCAAGGGTAGGTACCTGAGATGC 0.424 2 4 --- --- --- --- HHATL 57467 broad.mit.edu 37 3 42741312 42741312 + Frame_Shift_Del DEL C C - TCGA-WB-A80N-01A-11D-A35I-08 TCGA-WB-A80N-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e276efa-a716-467d-9ef1-aeaae0a1e1af 9ad87214-6a8b-4246-a8b5-151dcef4fbd7 g.chr3:42741312delC ENST00000441594.1 - 3 373 c.112delG c.(112-114)ccfs p.A38fs HHATL_ENST00000310417.5_Frame_Shift_Del_p.A38fs NM_020707.3 NP_065758.3 Q9HCP6 HHATL_HUMAN hedgehog acyltransferase-like 38 negative regulation of N-terminal protein palmitoylation endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(3) 19 KIRC - Kidney renal clear cell carcinoma(284;0.215) TTCCTGTGGGCCCCATCTGAG 0.662 2 4 --- --- --- --- GRIN1 2902 broad.mit.edu 37 9 140056433 140056433 + Frame_Shift_Del DEL C C - TCGA-WB-A80N-01A-11D-A35I-08 TCGA-WB-A80N-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e276efa-a716-467d-9ef1-aeaae0a1e1af 9ad87214-6a8b-4246-a8b5-151dcef4fbd7 g.chr9:140056433delC ENST00000371561.3 + 11 2622 c.1525delC c.(1525-1527)agfs p.Q509fs GRIN1_ENST00000371560.3_Frame_Shift_Del_p.Q530fs|GRIN1_ENST00000350902.5_Frame_Shift_Del_p.Q509fs|GRIN1_ENST00000315048.3_Frame_Shift_Del_p.Q509fs|GRIN1_ENST00000371550.4_Frame_Shift_Del_p.Q509fs|GRIN1_ENST00000371559.4_Frame_Shift_Del_p.Q509fs|GRIN1_ENST00000471122.1_3'UTR|GRIN1_ENST00000371546.4_Frame_Shift_Del_p.Q530fs|GRIN1_ENST00000371555.4_Frame_Shift_Del_p.Q530fs|GRIN1_ENST00000371553.3_Frame_Shift_Del_p.Q530fs NM_007327.3 NP_015566.1 Q05586 NMDZ1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 1 509 ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0878) OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095) L-Glutamic Acid(DB00142)|Orphenadrine(DB01173) GCTCAGCGGGCAGGCAGACAT 0.592 2 4 --- --- --- --- SEC61A2 55176 broad.mit.edu 37 10 12211282 12211282 + Frame_Shift_Del DEL A A - TCGA-WB-A80N-01A-11D-A35I-08 TCGA-WB-A80N-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e276efa-a716-467d-9ef1-aeaae0a1e1af 9ad87214-6a8b-4246-a8b5-151dcef4fbd7 g.chr10:12211282delA ENST00000304267.8 + 12 1357 c.1270delA c.(1270-1272)agfs p.K424fs NUDT5_ENST00000491614.1_Intron|NUDT5_ENST00000378937.3_Intron|NUDT5_ENST00000537776.1_Intron|SEC61A2_ENST00000495368.1_3'UTR|NUDT5_ENST00000378952.3_Intron NM_001142627.1 NP_001136099.1 Q9H9S3 S61A2_HUMAN Sec61 alpha 2 subunit (S. cerevisiae) 0 endoplasmic reticulum membrane|integral to membrane P-P-bond-hydrolysis-driven protein transmembrane transporter activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 Renal(717;0.228) AAGAAGGTGGAAGGGAGAAGG 0.443 2 4 --- --- --- --- HERC2P2 400322 broad.mit.edu 37 15 23312380 23312380 + RNA DEL T T - TCGA-WB-A80N-01A-11D-A35I-08 TCGA-WB-A80N-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e276efa-a716-467d-9ef1-aeaae0a1e1af 9ad87214-6a8b-4246-a8b5-151dcef4fbd7 g.chr15:23312380delT ENST00000560464.1 - 0 3118 TGTTAttttcttttttttttt 0.398 3 4 --- --- --- --- MVD 4597 broad.mit.edu 37 16 88721768 88721768 + Frame_Shift_Del DEL C C - TCGA-WB-A80N-01A-11D-A35I-08 TCGA-WB-A80N-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e276efa-a716-467d-9ef1-aeaae0a1e1af 9ad87214-6a8b-4246-a8b5-151dcef4fbd7 g.chr16:88721768delC ENST00000301012.3 - 7 765 c.736delG c.(736-738)agfs p.E246fs NM_002461.1 NP_002452.1 P53602 MVD1_HUMAN mevalonate (diphospho) decarboxylase 246 cholesterol biosynthetic process|positive regulation of cell proliferation cytosol ATP binding|diphosphomevalonate decarboxylase activity|Hsp70 protein binding|kinase activity|protein homodimerization activity endometrium(3)|large_intestine(1)|lung(7)|ovary(1) 12 BRCA - Breast invasive adenocarcinoma(80;0.0478) AAGTCTCGCTCCCGGATGCAG 0.657 2 4 --- --- --- ---