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 KIAA1614 57710 broad.mit.edu 37 1 180907822 180907822 + Missense_Mutation SNP G G A TCGA-J4-8198-01A-11D-2260-08 TCGA-J4-8198-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d289d-fcb7-456e-833f-11f3b2d5a361 5050d3e5-3b45-4d06-b454-7ccd753837dc g.chr1:180907822G>A ENST00000367588.4 + 6 2948 c.2893G>A c.(2893-2895)Gga>Aga p.G965R KIAA1614_ENST00000367587.1_Missense_Mutation_p.G586R NM_020950.1 NP_066001.1 Q5VZ46 K1614_HUMAN KIAA1614 965 Ser-rich. NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 33 GACAGGGTCAGGATCTGGAGG 0.582 3 49 --- --- --- --- IARS2 55699 broad.mit.edu 37 1 220273972 220273972 + Silent SNP T T C TCGA-J4-8198-01A-11D-2260-08 TCGA-J4-8198-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d289d-fcb7-456e-833f-11f3b2d5a361 5050d3e5-3b45-4d06-b454-7ccd753837dc g.chr1:220273972T>C ENST00000366922.1 + 3 646 c.315T>C c.(313-315)gcT>gcC p.A105A IARS2_ENST00000302637.5_Silent_p.A177A Q9NSE4 SYIM_HUMAN isoleucyl-tRNA synthetase 2, mitochondrial 177 isoleucyl-tRNA aminoacylation mitochondrial matrix ATP binding|isoleucine-tRNA ligase activity NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 51 GBM - Glioblastoma multiforme(131;0.0554) L-Isoleucine(DB00167) ATCTTTCAGCTATGGAAATTA 0.348 19 28 --- --- --- --- CNTNAP5 129684 broad.mit.edu 37 2 125547651 125547651 + Silent SNP G G A TCGA-J4-8198-01A-11D-2260-08 TCGA-J4-8198-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d289d-fcb7-456e-833f-11f3b2d5a361 5050d3e5-3b45-4d06-b454-7ccd753837dc g.chr2:125547651G>A ENST00000431078.1 + 18 3286 c.2922G>A c.(2920-2922)gtG>gtA p.V974V NM_130773.2 NP_570129.1 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 974 EGF-like 2. cell adhesion|signal transduction integral to membrane receptor binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3) 176 BRCA - Breast invasive adenocarcinoma(221;0.248) GCAAGTGTGTGGAGAAGCACA 0.557 16 22 --- --- --- --- RIF1 55183 broad.mit.edu 37 2 152322042 152322042 + Missense_Mutation SNP A A C TCGA-J4-8198-01A-11D-2260-08 TCGA-J4-8198-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d289d-fcb7-456e-833f-11f3b2d5a361 5050d3e5-3b45-4d06-b454-7ccd753837dc g.chr2:152322042A>C ENST00000243326.5 + 29 6491 c.6008A>C c.(6007-6009)aAt>aCt p.N2003T RIF1_ENST00000428287.2_Missense_Mutation_p.N2003T|RIF1_ENST00000444746.2_Missense_Mutation_p.N2003T|RIF1_ENST00000453091.2_Missense_Mutation_p.N2003T|RIF1_ENST00000430328.2_Missense_Mutation_p.N2003T Q5UIP0 RIF1_HUMAN RAP1 interacting factor homolog (yeast) Interaction with condensed chromosomes in telophase. cell cycle|response to DNA damage stimulus chromosome, telomeric region|cytoplasm|nucleus|spindle binding NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 97 BRCA - Breast invasive adenocarcinoma(221;0.0429) GATGGAGGAAATGATGTATCT 0.368 8 15 --- --- --- --- CLASP2 23122 broad.mit.edu 37 3 33686339 33686339 + Missense_Mutation SNP A A G TCGA-J4-8198-01A-11D-2260-08 TCGA-J4-8198-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d289d-fcb7-456e-833f-11f3b2d5a361 5050d3e5-3b45-4d06-b454-7ccd753837dc g.chr3:33686339A>G ENST00000399362.4 - 8 1125 c.772T>C c.(772-774)Tca>Cca p.S258P CLASP2_ENST00000480013.1_Missense_Mutation_p.S25P|CLASP2_ENST00000359576.5_Missense_Mutation_p.S258P|CLASP2_ENST00000307312.7_5'UTR|CLASP2_ENST00000333778.6_Missense_Mutation_p.S35P|CLASP2_ENST00000487200.1_Missense_Mutation_p.S31P|CLASP2_ENST00000461133.3_Missense_Mutation_p.S25P|CLASP2_ENST00000313350.6_Missense_Mutation_p.S31P|CLASP2_ENST00000482896.1_5'UTR|CLASP2_ENST00000539981.1_Missense_Mutation_p.S31P|CLASP2_ENST00000468888.2_Missense_Mutation_p.S258P NM_015097.2 NP_055912.2 B2RTR1 B2RTR1_HUMAN cytoplasmic linker associated protein 2 258 breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 48 TTGAAGGCTGATGCAGCTGAT 0.438 2 10 --- --- --- --- C6 729 broad.mit.edu 37 5 41154017 41154017 + Missense_Mutation SNP C C T TCGA-J4-8198-01A-11D-2260-08 TCGA-J4-8198-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d289d-fcb7-456e-833f-11f3b2d5a361 5050d3e5-3b45-4d06-b454-7ccd753837dc g.chr5:41154017C>T ENST00000263413.3 - 15 2449 c.2185G>A c.(2185-2187)Gag>Aag p.E729K C6_ENST00000337836.5_Missense_Mutation_p.E729K NM_001115131.1 NP_001108603.2 P13671 CO6_HUMAN complement component 6 729 C5b-binding domain.|Sushi 2. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2) 96 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) CAAGTTAGCTCAATGGATTCA 0.478 17 48 --- --- --- --- GTF2E2 2961 broad.mit.edu 37 8 30437879 30437879 + Missense_Mutation SNP A A C TCGA-J4-8198-01A-11D-2260-08 TCGA-J4-8198-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d289d-fcb7-456e-833f-11f3b2d5a361 5050d3e5-3b45-4d06-b454-7ccd753837dc g.chr8:30437879A>C ENST00000355904.4 - 7 960 c.678T>G c.(676-678)gaT>gaG p.D226E NM_002095.4 NP_002086.1 P29084 T2EB_HUMAN general transcription factor IIE, polypeptide 2, beta 34kDa 226 regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction transcription factor TFIIE complex DNA binding|protein binding endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 KIRC - Kidney renal clear cell carcinoma(542;0.113)|Kidney(114;0.135) CGTCCATGGAATCTACAGTGA 0.373 28 59 --- --- --- --- MTDH 92140 broad.mit.edu 37 8 98657100 98657100 + Silent SNP G G A TCGA-J4-8198-01A-11D-2260-08 TCGA-J4-8198-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d289d-fcb7-456e-833f-11f3b2d5a361 5050d3e5-3b45-4d06-b454-7ccd753837dc g.chr8:98657100G>A ENST00000336273.3 + 1 694 c.366G>A c.(364-366)ctG>ctA p.L122L MTDH_ENST00000519934.1_Silent_p.L99L NM_178812.3 NP_848927.2 Q86UE4 LYRIC_HUMAN metadherin 122 Interaction with BCCIP.|Interaction with RELA. lipopolysaccharide-mediated signaling pathway|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of angiogenesis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein kinase B signaling cascade apical plasma membrane|endoplasmic reticulum membrane|integral to membrane|intercellular canaliculus|nuclear body|nuclear membrane|nucleolus|perinuclear region of cytoplasm|tight junction NF-kappaB binding|RNA polymerase II transcription factor binding|transcription coactivator activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 32 Breast(36;2.56e-06) OV - Ovarian serous cystadenocarcinoma(57;0.178) GGAAGAAACTGTCCGAGAAGC 0.672 3 8 --- --- --- --- POLD3 10714 broad.mit.edu 37 11 74303721 74303721 + Nonsense_Mutation SNP T T G TCGA-J4-8198-01A-11D-2260-08 TCGA-J4-8198-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d289d-fcb7-456e-833f-11f3b2d5a361 5050d3e5-3b45-4d06-b454-7ccd753837dc g.chr11:74303721T>G ENST00000263681.2 + 1 147 c.18T>G c.(16-18)taT>taG p.Y6* POLD3_ENST00000532784.1_3'UTR|POLD3_ENST00000532497.1_De_novo_Start_OutOfFrame|POLD3_ENST00000527458.1_De_novo_Start_InFrame NM_006591.2 NP_006582.1 Q15054 DPOD3_HUMAN polymerase (DNA-directed), delta 3, accessory subunit 6 base-excision repair|DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|mismatch repair|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair delta DNA polymerase complex|nucleoplasm DNA-directed DNA polymerase activity|protein binding breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|stomach(1) 18 Breast(11;3.21e-06) ACCAGCTTTATCTGGAAAATA 0.622 9 11 --- --- --- --- BIRC2 329 broad.mit.edu 37 11 102248361 102248361 + Missense_Mutation SNP C C G TCGA-J4-8198-01A-11D-2260-08 TCGA-J4-8198-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d289d-fcb7-456e-833f-11f3b2d5a361 5050d3e5-3b45-4d06-b454-7ccd753837dc g.chr11:102248361C>G ENST00000227758.2 + 7 2900 c.1501C>G c.(1501-1503)Cag>Gag p.Q501E BIRC2_ENST00000527910.1_3'UTR|BIRC2_ENST00000530675.1_Missense_Mutation_p.Q452E|BIRC2_ENST00000532672.1_Missense_Mutation_p.Q480E NM_001166.4|NM_001256163.1 NP_001157.1|NP_001243092.1 Q13490 BIRC2_HUMAN baculoviral IAP repeat containing 2 501 CARD. cell surface receptor linked signaling pathway|cellular component disassembly involved in apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination CD40 receptor complex|cytosol|internal side of plasma membrane protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093) Lung(13;0.109)|Epithelial(9;0.11)|LUSC - Lung squamous cell carcinoma(19;0.151) BRCA - Breast invasive adenocarcinoma(274;0.0144) ACAAAAAACACAGATACCTTT 0.333 12 19 --- --- --- --- ISLR 3671 broad.mit.edu 37 15 74467265 74467265 + Silent SNP C C T TCGA-J4-8198-01A-11D-2260-08 TCGA-J4-8198-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d289d-fcb7-456e-833f-11f3b2d5a361 5050d3e5-3b45-4d06-b454-7ccd753837dc g.chr15:74467265C>T ENST00000249842.3 + 2 423 c.66C>T c.(64-66)ccC>ccT p.P22P RP11-665J16.1_ENST00000561647.1_RNA|ISLR_ENST00000395118.1_Silent_p.P22P NM_005545.3 NP_005536.1 O14498 ISLR_HUMAN immunoglobulin superfamily containing leucine-rich repeat 22 LRRNT. cell adhesion extracellular region central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1) 20 GCCCTGAGCCCTGCGACTGTG 0.627 13 34 --- --- --- --- MYO15A 51168 broad.mit.edu 37 17 18023607 18023607 + Missense_Mutation SNP C C T TCGA-J4-8198-01A-11D-2260-08 TCGA-J4-8198-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d289d-fcb7-456e-833f-11f3b2d5a361 5050d3e5-3b45-4d06-b454-7ccd753837dc g.chr17:18023607C>T ENST00000205890.5 + 2 1831 c.1493C>T c.(1492-1494)cCa>cTa p.P498L NM_016239.3 NP_057323.3 Q9UKN7 MYO15_HUMAN myosin XVA 498 Myosin head-like. sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 99 all_neural(463;0.228) GTGCCCCTGCCACCCTCTCTG 0.642 17 37 --- --- --- --- MED13 9969 broad.mit.edu 37 17 60060259 60060259 + Missense_Mutation SNP T T A TCGA-J4-8198-01A-11D-2260-08 TCGA-J4-8198-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d289d-fcb7-456e-833f-11f3b2d5a361 5050d3e5-3b45-4d06-b454-7ccd753837dc g.chr17:60060259T>A ENST00000397786.2 - 16 3181 c.3105A>T c.(3103-3105)aaA>aaT p.K1035N NM_005121.2 NP_005112.2 Q9UHV7 MED13_HUMAN mediator complex subunit 13 1035 androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 88 AATTTTCATATTTGACTGAAC 0.507 17 37 --- --- --- --- EPB41L3 23136 broad.mit.edu 37 18 5416266 5416266 + Missense_Mutation SNP G G T TCGA-J4-8198-01A-11D-2260-08 TCGA-J4-8198-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d289d-fcb7-456e-833f-11f3b2d5a361 5050d3e5-3b45-4d06-b454-7ccd753837dc g.chr18:5416266G>T ENST00000341928.2 - 13 1958 c.1618C>A c.(1618-1620)Cca>Aca p.P540T EPB41L3_ENST00000540638.2_Intron|EPB41L3_ENST00000544123.1_Intron|EPB41L3_ENST00000542146.1_Intron|EPB41L3_ENST00000342933.3_Missense_Mutation_p.P540T|EPB41L3_ENST00000400111.3_Intron|EPB41L3_ENST00000542652.2_Intron|EPB41L3_ENST00000427684.2_Intron NM_012307.2 NP_036439.2 Q9Y2J2 E41L3_HUMAN erythrocyte membrane protein band 4.1-like 3 540 Spectrin--actin-binding (Potential). cortical actin cytoskeleton organization cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane actin binding|structural molecule activity breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 TCATAACCTGGCAGTTTGCAG 0.582 25 73 --- --- --- --- ATP5A1 498 broad.mit.edu 37 18 43666432 43666432 + Missense_Mutation SNP T T C TCGA-J4-8198-01A-11D-2260-08 TCGA-J4-8198-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d289d-fcb7-456e-833f-11f3b2d5a361 5050d3e5-3b45-4d06-b454-7ccd753837dc g.chr18:43666432T>C ENST00000593152.2 - 9 1594 c.1055A>G c.(1054-1056)aAa>aGa p.K352R ATP5A1_ENST00000590665.1_Missense_Mutation_p.K380R|ATP5A1_ENST00000398752.6_Missense_Mutation_p.K402R|ATP5A1_ENST00000282050.2_Missense_Mutation_p.K402R NM_001257335.1 NP_001244264.1 P25705 ATPA_HUMAN ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle 402 ATP hydrolysis coupled proton transport|embryo development|lipid metabolic process|negative regulation of endothelial cell proliferation|respiratory electron transport chain mitochondrial matrix|plasma membrane ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|skin(1)|urinary_tract(1) 22 GCGGATACCTTTGTAGAACAA 0.408 10 20 --- --- --- --- C19orf44 84167 broad.mit.edu 37 19 16620545 16620545 + Missense_Mutation SNP A A G TCGA-J4-8198-01A-11D-2260-08 TCGA-J4-8198-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d289d-fcb7-456e-833f-11f3b2d5a361 5050d3e5-3b45-4d06-b454-7ccd753837dc g.chr19:16620545A>G ENST00000221671.3 + 5 1541 c.1385A>G c.(1384-1386)aAc>aGc p.N462S C19orf44_ENST00000594035.1_Missense_Mutation_p.N462S|CTD-3222D19.2_ENST00000409035.1_Intron NM_032207.2 NP_115583.1 Q9H6X5 CS044_HUMAN chromosome 19 open reading frame 44 462 endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2) 16 CCCATGGTGAACACAGTCAGC 0.547 20 33 --- --- --- --- RSPH6A 81492 broad.mit.edu 37 19 46303813 46303813 + Missense_Mutation SNP G G A TCGA-J4-8198-01A-11D-2260-08 TCGA-J4-8198-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d289d-fcb7-456e-833f-11f3b2d5a361 5050d3e5-3b45-4d06-b454-7ccd753837dc g.chr19:46303813G>A ENST00000221538.3 - 5 1949 c.1807C>T c.(1807-1809)Cac>Tac p.H603Y RSPH6A_ENST00000597055.1_Missense_Mutation_p.H603Y|RSPH6A_ENST00000600188.1_Missense_Mutation_p.H339Y NM_030785.3 NP_110412.1 Q9H0K4 RSH6A_HUMAN radial spoke head 6 homolog A (Chlamydomonas) 603 Glu-rich. intracellular central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 32 GGTGCCAGGTGCATGATTTCT 0.667 12 36 --- --- --- --- HELQ 113510 broad.mit.edu 37 4 84375053 84375060 + Frame_Shift_Del DEL TAAAGCTA TAAAGCTA - TCGA-J4-8198-01A-11D-2260-08 TCGA-J4-8198-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d289d-fcb7-456e-833f-11f3b2d5a361 5050d3e5-3b45-4d06-b454-7ccd753837dc g.chr4:84375053_84375060delTAAAGCTA ENST00000295488.3 - 2 498_505 c.336_343delTAGCTTTA c.(334-345)gatagctttactfs p.SFT113fs HELQ_ENST00000510985.1_Frame_Shift_Del_p.SFT113fs|HELQ_ENST00000440639.2_5'UTR NM_133636.2 NP_598375 Q8TDG4 HELQ_HUMAN helicase, POLQ-like 113 ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2) 38 GAGTTTTCAGTAAAGCTATCATAGTCAC 0.375 Other identified genes with known or suspected DNA repair function 27 135 --- --- --- --- NAV3 89795 broad.mit.edu 37 12 78593154 78593155 + Frame_Shift_Ins INS - - T TCGA-J4-8198-01A-11D-2260-08 TCGA-J4-8198-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d289d-fcb7-456e-833f-11f3b2d5a361 5050d3e5-3b45-4d06-b454-7ccd753837dc g.chr12:78593154_78593155insT ENST00000397909.2 + 37 6731_6732 c.6558_6559insT c.(6559-6561)tttfs p.F2187fs NAV3_ENST00000536525.2_Frame_Shift_Ins_p.F2165fs|NAV3_ENST00000541270.1_Frame_Shift_Ins_p.F17fs|NAV3_ENST00000228327.6_Frame_Shift_Ins_p.F2165fs|NAV3_ENST00000266692.7_Frame_Shift_Ins_p.F1988fs Q8IVL0 NAV3_HUMAN neuron navigator 3 2187 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 CAGTGAAAGGCTTTTTAGGCAG 0.302 HNSCC(70;0.22) 8 92 --- --- --- ---