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 KAL1 3730 broad.mit.edu 37 X 8536357 8536357 + Nonsense_Mutation SNP G G A TCGA-V1-A9OL-01A-11D-A41K-08 TCGA-V1-A9OL-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10d212ad-7a3d-4bb9-849e-3bcf4fcdf741 8630a7bf-bde9-4726-ac4d-8641b8365de9 g.chrX:8536357G>A ENST00000262648.3 - 8 1272 c.1123C>T c.(1123-1125)Caa>Taa p.Q375* NM_000216.2 NP_000207.2 P23352 KALM_HUMAN Kallmann syndrome 1 sequence 375 Fibronectin type-III 2. axon guidance|cell adhesion|cellular component movement extracellular space|plasma membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|heparin binding|serine-type endopeptidase inhibitor activity breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1) 32 GTTATGGCTTGCAATTCCACA 0.438000 13 19 0 0 1 0 0 ESPNP 0 broad.mit.edu 37 1 17017717 17017717 + RNA SNP C C T rs12561804 by1000genomes TCGA-V1-A9OL-01A-11D-A41K-08 TCGA-V1-A9OL-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10d212ad-7a3d-4bb9-849e-3bcf4fcdf741 8630a7bf-bde9-4726-ac4d-8641b8365de9 g.chr1:17017717C>T ENST00000492551.1 - 0 2010 NR_026567.1 GCTCACCTCTCTTCTTCCAGC 0.622000 5 24 0 0 1 0 0 PRC1 9055 broad.mit.edu 37 15 91513730 91513730 + Silent SNP G G T TCGA-V1-A9OL-01A-11D-A41K-08 TCGA-V1-A9OL-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10d212ad-7a3d-4bb9-849e-3bcf4fcdf741 8630a7bf-bde9-4726-ac4d-8641b8365de9 g.chr15:91513730G>T ENST00000361188.5 - 12 2687 c.1476C>A c.(1474-1476)acC>acA p.T492T PRC1_ENST00000442656.2_Silent_p.T451T|PRC1-AS1_ENST00000554388.1_RNA|PRC1_ENST00000361919.3_Silent_p.T492T|PRC1-AS1_ENST00000556200.1_RNA|PRC1_ENST00000394249.3_Silent_p.T492T O43663 PRC1_HUMAN protein regulator of cytokinesis 1 492 Unstructured, Arg/Lys rich. cytokinesis|mitotic spindle elongation cytoplasm|nucleus|spindle microtubule|spindle pole protein binding endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2) 25 Lung NSC(78;0.0987)|all_lung(78;0.175) CATTGGACATGGTGGTAGTGT 0.502000 3 53 0.150653 0.150653 1 1 0 ZNF423 23090 broad.mit.edu 37 16 49671795 49671795 + Missense_Mutation SNP G G A TCGA-V1-A9OL-01A-11D-A41K-08 TCGA-V1-A9OL-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10d212ad-7a3d-4bb9-849e-3bcf4fcdf741 8630a7bf-bde9-4726-ac4d-8641b8365de9 g.chr16:49671795G>A ENST00000561648.1 - 4 1321 c.1268C>T c.(1267-1269)gCc>gTc p.A423V ZNF423_ENST00000562871.1_Missense_Mutation_p.A363V|ZNF423_ENST00000562520.1_Missense_Mutation_p.A363V|ZNF423_ENST00000262383.2_Missense_Mutation_p.A423V|ZNF423_ENST00000563137.2_Missense_Mutation_p.A363V|ZNF423_ENST00000567169.1_Missense_Mutation_p.A306V|ZNF423_ENST00000535559.1_Missense_Mutation_p.A306V NM_001271620.1 NP_001258549.1 Q2M1K9 ZN423_HUMAN zinc finger protein 423 423 cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2) 89 all_cancers(37;0.0155) CTCCAGCACGGCCAGGCTGTT 0.607000 4 76 0 0 1 0 0 TGOLN2 10618 broad.mit.edu 37 2 85554616 85554616 + Missense_Mutation SNP G G C TCGA-V1-A9OL-01A-11D-A41K-08 TCGA-V1-A9OL-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10d212ad-7a3d-4bb9-849e-3bcf4fcdf741 8630a7bf-bde9-4726-ac4d-8641b8365de9 g.chr2:85554616G>C ENST00000377386.3 - 2 701 c.239C>G c.(238-240)aCc>aGc p.T80S TGOLN2_ENST00000409232.3_Missense_Mutation_p.T80S|TGOLN2_ENST00000409015.1_Missense_Mutation_p.T80S|TGOLN2_ENST00000398263.2_Missense_Mutation_p.T80S|TGOLN2_ENST00000444342.2_Missense_Mutation_p.T80S|TGOLN2_ENST00000282120.2_Intron O43493 TGON2_HUMAN trans-golgi network protein 2 80 14 X 14 AA tandem repeats. integral to membrane|nucleus|plasma membrane|trans-Golgi network|transport vesicle protein binding CTTGTTGGGGGTGTCTTCTGG 0.597000 6 414 0 0 1 0 0 FAM71B 153745 broad.mit.edu 37 5 156592716 156592716 + Missense_Mutation SNP C C A TCGA-V1-A9OL-01A-11D-A41K-08 TCGA-V1-A9OL-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10d212ad-7a3d-4bb9-849e-3bcf4fcdf741 8630a7bf-bde9-4726-ac4d-8641b8365de9 g.chr5:156592716C>A ENST00000302938.4 - 1 559 c.464G>T c.(463-465)tGt>tTt p.C155F NM_130899.2 NP_570969.2 Q8TC56 FA71B_HUMAN family with sequence similarity 71, member B 155 nucleus NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 68 Renal(175;0.00212) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) AGAAGAGGGACACAACTGCAG 0.478000 38 63 1.60099e-16 1.8452e-16 1 1 0 UBBP4 0 broad.mit.edu 37 17 21731270 21731270 + Missense_Mutation SNP T T C TCGA-V1-A9OL-01A-11D-A41K-08 TCGA-V1-A9OL-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10d212ad-7a3d-4bb9-849e-3bcf4fcdf741 8630a7bf-bde9-4726-ac4d-8641b8365de9 g.chr17:21731270T>C ENST00000584755.1 + 2 969 c.572T>C c.(571-573)aTc>aCc p.I191T UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000578713.1_Intron p.I191T(3) endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 ATCCCCCCGATCAGCAGAGGC 0.547000 4 73 0 0 1 0 0 ANK2 287 broad.mit.edu 37 4 114251469 114251469 + Nonsense_Mutation SNP C C T TCGA-V1-A9OL-01A-11D-A41K-08 TCGA-V1-A9OL-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10d212ad-7a3d-4bb9-849e-3bcf4fcdf741 8630a7bf-bde9-4726-ac4d-8641b8365de9 g.chr4:114251469C>T ENST00000357077.4 + 27 3021 c.2968C>T c.(2968-2970)Cga>Tga p.R990* ANK2_ENST00000506722.1_Nonsense_Mutation_p.R981*|ANK2_ENST00000509550.1_Nonsense_Mutation_p.R199*|ANK2_ENST00000264366.6_Nonsense_Mutation_p.R990*|ANK2_ENST00000394537.3_Nonsense_Mutation_p.R990* NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 990 Interaction with SPTBN1.|ZU5. axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) CAATGGGCTCCGAATCATTAT 0.473000 10 31 0 0 1 0 0 ZFHX3 463 broad.mit.edu 37 16 72984599 72984599 + Silent SNP G G C TCGA-V1-A9OL-01A-11D-A41K-08 TCGA-V1-A9OL-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10d212ad-7a3d-4bb9-849e-3bcf4fcdf741 8630a7bf-bde9-4726-ac4d-8641b8365de9 g.chr16:72984599G>C ENST00000268489.5 - 3 3657 c.2985C>G c.(2983-2985)ctC>ctG p.L995L ZFHX3_ENST00000397992.5_Silent_p.L81L NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 995 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) AGTTGGCCTTGAGCTGGGTGT 0.612000 14 13 0 0 1 0 0 HAUS6 54801 broad.mit.edu 37 9 19063090 19063090 + Missense_Mutation SNP A A T TCGA-V1-A9OL-01A-11D-A41K-08 TCGA-V1-A9OL-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10d212ad-7a3d-4bb9-849e-3bcf4fcdf741 8630a7bf-bde9-4726-ac4d-8641b8365de9 g.chr9:19063090A>T ENST00000380502.3 - 14 2012 c.1545T>A c.(1543-1545)aaT>aaA p.N515K HAUS6_ENST00000380496.1_Missense_Mutation_p.N379K NM_017645.3 NP_060115.3 Q7Z4H7 HAUS6_HUMAN HAUS augmin-like complex, subunit 6 515 cell division|centrosome organization|mitosis|spindle assembly centrosome|HAUS complex|microtubule|nucleus|spindle autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 TACTCTCTGTATTCTTTGCAA 0.358000 51 78 0 0 1 0 0 KRT6A 3853 broad.mit.edu 37 12 52884407 52884407 + Silent SNP A A G TCGA-V1-A9OL-01A-11D-A41K-08 TCGA-V1-A9OL-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10d212ad-7a3d-4bb9-849e-3bcf4fcdf741 8630a7bf-bde9-4726-ac4d-8641b8365de9 g.chr12:52884407A>G ENST00000330722.6 - 5 1091 c.1023T>C c.(1021-1023)taT>taC p.Y341Y NM_005554.3 NP_005545.1 P02538 K2C6A_HUMAN keratin 6A 341 Coil 2.|Rod. cell differentiation|ectoderm development|positive regulation of cell proliferation keratin filament protein binding|structural constituent of cytoskeleton breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 39 BRCA - Breast invasive adenocarcinoma(357;0.189) CAATCTCCTCATATTGGGCCT 0.577000 12 143 0 0 1 0 0 TNR 7143 broad.mit.edu 37 1 175334155 175334155 + Missense_Mutation SNP T T C TCGA-V1-A9OL-01A-11D-A41K-08 TCGA-V1-A9OL-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10d212ad-7a3d-4bb9-849e-3bcf4fcdf741 8630a7bf-bde9-4726-ac4d-8641b8365de9 g.chr1:175334155T>C ENST00000367674.1 - 12 3286 c.2578A>G c.(2578-2580)Atc>Gtc p.I860V TNR_ENST00000263525.2_Missense_Mutation_p.I860V NM_003285.2 NP_003276.3 Q92752 TENR_HUMAN tenascin R 860 Fibronectin type-III 6. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 177 Renal(580;0.146) CCTGTGGTGATGGAGCCCACA 0.502000 21 29 0 0 1 0 0 FBN3 84467 broad.mit.edu 37 19 8196684 8196684 + Missense_Mutation SNP A A T TCGA-V1-A9OL-01A-11D-A41K-08 TCGA-V1-A9OL-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10d212ad-7a3d-4bb9-849e-3bcf4fcdf741 8630a7bf-bde9-4726-ac4d-8641b8365de9 g.chr19:8196684A>T ENST00000600128.1 - 15 2158 c.1744T>A c.(1744-1746)Tgc>Agc p.C582S FBN3_ENST00000270509.2_Missense_Mutation_p.C582S|FBN3_ENST00000601739.1_Missense_Mutation_p.C582S Q75N90 FBN3_HUMAN fibrillin 3 582 EGF-like 7; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 132 CCGTTCACGCAGATGCCGGGC 0.672000 5 6 0 0 1 0 0 AP1B1 162 broad.mit.edu 37 22 29750667 29750667 + Missense_Mutation SNP G G A TCGA-V1-A9OL-01A-11D-A41K-08 TCGA-V1-A9OL-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10d212ad-7a3d-4bb9-849e-3bcf4fcdf741 8630a7bf-bde9-4726-ac4d-8641b8365de9 g.chr22:29750667G>A ENST00000357586.2 - 7 1096 c.910C>T c.(910-912)Cgc>Tgc p.R304C AP1B1_ENST00000432560.2_Missense_Mutation_p.R304C|AP1B1_ENST00000405198.1_Missense_Mutation_p.R304C|AP1B1_ENST00000415447.1_Missense_Mutation_p.R304C|AP1B1_ENST00000402502.1_Missense_Mutation_p.R304C|AP1B1_ENST00000317368.7_Missense_Mutation_p.R304C|AP1B1_ENST00000356015.2_Missense_Mutation_p.R304C NM_001127.3 NP_001118.3 Q10567 AP1B1_HUMAN adaptor-related protein complex 1, beta 1 subunit 304 endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane protein binding|protein transporter activity endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 TTGATGTTGCGCAGGGCCACA 0.592000 21 13 0 0 1 0 0 GPC5 2262 broad.mit.edu 37 13 92380805 92380805 + Missense_Mutation SNP G G A TCGA-V1-A9OL-01A-11D-A41K-08 TCGA-V1-A9OL-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10d212ad-7a3d-4bb9-849e-3bcf4fcdf741 8630a7bf-bde9-4726-ac4d-8641b8365de9 g.chr13:92380805G>A ENST00000377067.3 + 4 1412 c.1040G>A c.(1039-1041)cGc>cAc p.R347H GPC5_ENST00000483422.1_3'UTR NM_004466.4 NP_004457.1 P78333 GPC5_HUMAN glypican 5 347 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding p.R347L(2)|p.R347H(1) NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) Lung NSC(4;0.00454) ATTTGTGGCCGCCCTGTAAGA 0.418000 36 50 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132547141 132547141 + Silent SNP G G A TCGA-V1-A9OL-01A-11D-A41K-08 TCGA-V1-A9OL-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10d212ad-7a3d-4bb9-849e-3bcf4fcdf741 8630a7bf-bde9-4726-ac4d-8641b8365de9 g.chr12:132547141G>A ENST00000333577.4 + 48 8446 c.8337G>A c.(8335-8337)caG>caA p.Q2779Q EP400_ENST00000332482.4_Silent_p.Q2706Q|EP400_ENST00000389562.2_Silent_p.Q2742Q|EP400_ENST00000389561.2_Silent_p.Q2743Q|EP400_ENST00000330386.6_Silent_p.Q2662Q Q96L91 EP400_HUMAN E1A binding protein p400 2779 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2742Q(2) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcaacagcagcagcagc 0.597000 3 29 0 0 1 0 0 SSPO 23145 broad.mit.edu 37 7 149492709 149492709 + RNA SNP G G A TCGA-V1-A9OL-01A-11D-A41K-08 TCGA-V1-A9OL-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10d212ad-7a3d-4bb9-849e-3bcf4fcdf741 8630a7bf-bde9-4726-ac4d-8641b8365de9 g.chr7:149492709G>A ENST00000378016.2 + 0 6489 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) GTCTACACTGGCATGACTATC 0.617000 4 147 0 0 1 0 0 ESPNP 0 broad.mit.edu 37 1 17017734 17017734 + RNA SNP C C T rs12561805 by1000genomes TCGA-V1-A9OL-01A-11D-A41K-08 TCGA-V1-A9OL-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10d212ad-7a3d-4bb9-849e-3bcf4fcdf741 8630a7bf-bde9-4726-ac4d-8641b8365de9 g.chr1:17017734C>T ENST00000492551.1 - 0 1993 NR_026567.1 CAGCTTCTTCCGCAGGAGGTC 0.647000 6 20 0 0 1 0 0 A1CF 29974 broad.mit.edu 37 10 52619638 52619638 + Silent SNP G G A TCGA-V1-A9OL-01A-11D-A41K-08 TCGA-V1-A9OL-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10d212ad-7a3d-4bb9-849e-3bcf4fcdf741 8630a7bf-bde9-4726-ac4d-8641b8365de9 g.chr10:52619638G>A ENST00000282641.2 - 3 250 c.63C>T c.(61-63)cgC>cgT p.R21R A1CF_ENST00000395495.1_Silent_p.R21R|A1CF_ENST00000373997.3_Silent_p.R21R|A1CF_ENST00000373995.3_5'UTR|A1CF_ENST00000395489.2_5'UTR|A1CF_ENST00000374001.1_Silent_p.R21R|A1CF_ENST00000373993.1_Silent_p.R21R NM_138932.2 NP_620310.1 Q9NQ94 A1CF_HUMAN APOBEC1 complementation factor 21 cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm nucleotide binding|protein binding|single-stranded RNA binding NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3) 29 GGACCAGTGCGCGGAGGGCTG 0.483000 30 32 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132547087 132547087 + Silent SNP G G A rs12366766 TCGA-V1-A9OL-01A-11D-A41K-08 TCGA-V1-A9OL-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10d212ad-7a3d-4bb9-849e-3bcf4fcdf741 8630a7bf-bde9-4726-ac4d-8641b8365de9 g.chr12:132547087G>A ENST00000333577.4 + 48 8392 c.8283G>A c.(8281-8283)caG>caA p.Q2761Q EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000330386.6_Silent_p.Q2644Q Q96L91 EP400_HUMAN E1A binding protein p400 2761 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2724Q(16)|p.Q2725Q(1) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcagcagcaacaacagc 0.562000 7 40 0 0 1 0 0 CCDC155 147872 broad.mit.edu 37 19 49910161 49910161 + Missense_Mutation SNP G G A TCGA-V1-A9OL-01A-11D-A41K-08 TCGA-V1-A9OL-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10d212ad-7a3d-4bb9-849e-3bcf4fcdf741 8630a7bf-bde9-4726-ac4d-8641b8365de9 g.chr19:49910161G>A ENST00000447857.3 + 10 1022 c.817G>A c.(817-819)Gag>Aag p.E273K NM_144688.4 NP_653289.3 Q8N6L0 CC155_HUMAN coiled-coil domain containing 155 273 integral to membrane calcium ion binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(10)|ovary(1)|stomach(1) 22 GCTGCTTGCCGAGCGGGATGG 0.488000 4 10 0 0 1 0 0 VAT1L 57687 broad.mit.edu 37 16 77859293 77859293 + Silent SNP C C T TCGA-V1-A9OL-01A-11D-A41K-08 TCGA-V1-A9OL-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10d212ad-7a3d-4bb9-849e-3bcf4fcdf741 8630a7bf-bde9-4726-ac4d-8641b8365de9 g.chr16:77859293C>T ENST00000302536.2 + 3 667 c.514C>T c.(514-516)Ctg>Ttg p.L172L NM_020927.1 NP_065978.1 Q9HCJ6 VAT1L_HUMAN vesicle amine transport 1-like 172 oxidoreductase activity|zinc ion binding central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 24 CTATGTGATGCTGTTTGAAGT 0.527000 10 8 0 0 1 0 0 SPTA1 6708 broad.mit.edu 37 1 158632635 158632635 + Missense_Mutation SNP C C T TCGA-V1-A9OL-01A-11D-A41K-08 TCGA-V1-A9OL-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10d212ad-7a3d-4bb9-849e-3bcf4fcdf741 8630a7bf-bde9-4726-ac4d-8641b8365de9 g.chr1:158632635C>T ENST00000368148.3 - 17 2501 c.2321G>A c.(2320-2322)cGa>cAa p.R774Q SPTA1_ENST00000368147.3_Missense_Mutation_p.R774Q NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 774 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.R774L(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) AGCTTCAAATCGGCATACCAA 0.478000 26 36 0 0 1 0 0 ZNF730 100129543 broad.mit.edu 37 19 23328789 23328789 + Missense_Mutation SNP G G A TCGA-V1-A9OL-01A-11D-A41K-08 TCGA-V1-A9OL-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10d212ad-7a3d-4bb9-849e-3bcf4fcdf741 8630a7bf-bde9-4726-ac4d-8641b8365de9 g.chr19:23328789G>A ENST00000597761.2 + 4 1142 c.943G>A c.(943-945)Gaa>Aaa p.E315K NM_001277403.1 NP_001264332.1 zinc finger protein 730 endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|pancreas(1)|stomach(2)|urinary_tract(1) 16 ATACAAATGCGAAAAATGTGG 0.358000 6 16 0 0 1 0 0 SCP2D1 140856 broad.mit.edu 37 20 18794834 18794834 + Silent SNP G G A TCGA-V1-A9OL-01A-11D-A41K-08 TCGA-V1-A9OL-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10d212ad-7a3d-4bb9-849e-3bcf4fcdf741 8630a7bf-bde9-4726-ac4d-8641b8365de9 g.chr20:18794834G>A ENST00000377428.2 + 1 465 c.375G>A c.(373-375)ccG>ccA p.P125P C20orf78_ENST00000278779.4_Intron NM_178483.2 NP_848578.1 SCP2 sterol-binding domain containing 1 AAATGAACCCGCAGAAGGCTT 0.498000 3 45 0 0 1 0 0 ACACA 31 broad.mit.edu 37 17 35538216 35538216 + Missense_Mutation SNP G G C TCGA-V1-A9OL-01A-11D-A41K-08 TCGA-V1-A9OL-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10d212ad-7a3d-4bb9-849e-3bcf4fcdf741 8630a7bf-bde9-4726-ac4d-8641b8365de9 g.chr17:35538216G>C ENST00000353139.5 - 40 5339 c.4858C>G c.(4858-4860)Ctg>Gtg p.L1620V ACACA_ENST00000394406.2_Missense_Mutation_p.L1583V|ACACA_ENST00000360679.3_Missense_Mutation_p.L1525V|ACACA_ENST00000335166.5_Missense_Mutation_p.L1505V NM_198834.1|NM_198839.1 NP_942131.1|NP_942136.1 Q13085 ACACA_HUMAN acetyl-CoA carboxylase alpha 1583 acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process cytosol acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 83 Breast(25;0.00157)|Ovarian(249;0.15) Biotin(DB00121) TTTGATTGCAGCAGGTCTTTG 0.433000 48 83 0 0 1 0 0 GRAMD1A 57655 broad.mit.edu 37 19 35512475 35512475 + Silent SNP G G A TCGA-V1-A9OL-01A-11D-A41K-08 TCGA-V1-A9OL-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10d212ad-7a3d-4bb9-849e-3bcf4fcdf741 8630a7bf-bde9-4726-ac4d-8641b8365de9 g.chr19:35512475G>A ENST00000599564.1 + 15 1877 c.1806G>A c.(1804-1806)tcG>tcA p.S602S CTD-2527I21.14_ENST00000605640.1_RNA|GRAMD1A_ENST00000317991.5_Silent_p.S515S|GRAMD1A_ENST00000411896.2_Silent_p.S508S|GRAMD1A_ENST00000504615.2_Silent_p.S281S Q96CP6 GRM1A_HUMAN GRAM domain containing 1A 515 integral to membrane NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1) 19 all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) AGAAGAACTCGTGGAGCGGCA 0.582000 26 41 0 0 1 0 0 SLC22A5 6584 broad.mit.edu 37 5 131722816 131722816 + Silent SNP G G T TCGA-V1-A9OL-01A-11D-A41K-08 TCGA-V1-A9OL-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10d212ad-7a3d-4bb9-849e-3bcf4fcdf741 8630a7bf-bde9-4726-ac4d-8641b8365de9 g.chr5:131722816G>T ENST00000245407.3 + 5 1145 c.924G>T c.(922-924)gtG>gtT p.V308V SLC22A5_ENST00000435065.2_Silent_p.V332V NM_003060.3 NP_003051.1 O76082 S22A5_HUMAN solute carrier family 22 (organic cation/carnitine transporter), member 5 308 positive regulation of intestinal epithelial structure maintenance|quorum sensing involved in interaction with host|sodium ion transport|sodium-dependent organic cation transport apical plasma membrane|brush border membrane|integral to membrane ATP binding|carnitine transporter activity|PDZ domain binding|symporter activity NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1) 8 all_cancers(142;0.0751)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) L-Carnitine(DB00583) GGATTGTTGTGCCTTCCACTA 0.557000 OREG0016767 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 189 1.76689e-08 1.90712e-08 1 1 0 OR10H5 284433 broad.mit.edu 37 19 15904883 15904883 + Missense_Mutation SNP G G A TCGA-V1-A9OL-01A-11D-A41K-08 TCGA-V1-A9OL-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10d212ad-7a3d-4bb9-849e-3bcf4fcdf741 8630a7bf-bde9-4726-ac4d-8641b8365de9 g.chr19:15904883G>A ENST00000308940.8 + 1 123 c.25G>A c.(25-27)Gtg>Atg p.V9M NM_001004466.1 NP_001004466.1 Q8NGA6 O10H5_HUMAN olfactory receptor, family 10, subfamily H, member 5 9 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(9)|ovary(1) 20 CCACACCTCCGTGTCTGAATT 0.572000 39 51 0 0 1 0 0 CNTN1 1272 broad.mit.edu 37 12 41323722 41323722 + Silent SNP C C A TCGA-V1-A9OL-01A-11D-A41K-08 TCGA-V1-A9OL-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10d212ad-7a3d-4bb9-849e-3bcf4fcdf741 8630a7bf-bde9-4726-ac4d-8641b8365de9 g.chr12:41323722C>A ENST00000551295.2 + 7 738 c.621C>A c.(619-621)ggC>ggA p.G207G CNTN1_ENST00000347616.1_Silent_p.G207G|CNTN1_ENST00000547849.1_Silent_p.G207G|CNTN1_ENST00000547702.1_Silent_p.G207G|CNTN1_ENST00000348761.2_Silent_p.G196G|CNTN1_ENST00000360099.3_Silent_p.G207G NM_001843.3 NP_001834.2 Q12860 CNTN1_HUMAN contactin 1 207 Ig-like C2-type 2. axon guidance|cell adhesion|Notch signaling pathway anchored to membrane|membrane fraction|plasma membrane central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 90 all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716) Lung NSC(34;0.0211)|all_lung(34;0.0294) CCGACAAAGGCAATTATTCCT 0.368000 42 130 6.48837e-15 7.35348e-15 1 1 0 TPTE2P6 0 broad.mit.edu 37 13 25161397 25161397 + RNA SNP C C G rs3874227 by1000genomes TCGA-V1-A9OL-01A-11D-A41K-08 TCGA-V1-A9OL-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10d212ad-7a3d-4bb9-849e-3bcf4fcdf741 8630a7bf-bde9-4726-ac4d-8641b8365de9 g.chr13:25161397C>G ENST00000453498.1 + 0 921 TGAAACATCTCTACAACTGGA 0.343000 4 54 0 0 1 0 0 EMILIN3 90187 broad.mit.edu 37 20 39991122 39991122 + Missense_Mutation SNP G G A TCGA-V1-A9OL-01A-11D-A41K-08 TCGA-V1-A9OL-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10d212ad-7a3d-4bb9-849e-3bcf4fcdf741 8630a7bf-bde9-4726-ac4d-8641b8365de9 g.chr20:39991122G>A ENST00000332312.3 - 4 1279 c.1087C>T c.(1087-1089)Cgc>Tgc p.R363C NM_052846.1 NP_443078.1 Q9NT22 EMIL3_HUMAN elastin microfibril interfacer 3 363 proteinaceous extracellular matrix biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2) 30 Myeloproliferative disorder(115;0.00425) AGCTCCTGGCGCAGGGCCAGC 0.672000 4 19 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145359109 145359109 + Missense_Mutation SNP T T A rs3967942 TCGA-V1-A9OL-01A-11D-A41K-08 TCGA-V1-A9OL-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10d212ad-7a3d-4bb9-849e-3bcf4fcdf741 8630a7bf-bde9-4726-ac4d-8641b8365de9 g.chr1:145359109T>A ENST00000342960.5 + 72 9084 c.9049T>A c.(9049-9051)Tgt>Agt p.C3017S NBPF10_ENST00000369339.2_Intron|NBPF10_ENST00000369338.1_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 3017 p.C3017S(1) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) TCTTGAACTGTGTGACTCATG 0.483000 4 74 0 0 1 0 0 CDK14 5218 broad.mit.edu 37 7 90356069 90356069 + Missense_Mutation SNP G G T TCGA-V1-A9OL-01A-11D-A41K-08 TCGA-V1-A9OL-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10d212ad-7a3d-4bb9-849e-3bcf4fcdf741 8630a7bf-bde9-4726-ac4d-8641b8365de9 g.chr7:90356069G>T ENST00000406263.1 + 2 616 c.174G>T c.(172-174)aaG>aaT p.K58N CDK14_ENST00000265741.3_Missense_Mutation_p.K86N|CDK14_ENST00000380050.3_Missense_Mutation_p.K104N|CDK14_ENST00000436577.2_Missense_Mutation_p.R7I O94921 CDK14_HUMAN cyclin-dependent kinase 14 104 cell division|G2/M transition of mitotic cell cycle|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane ATP binding|cyclin binding|cyclin-dependent protein kinase activity breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4) 32 TTAACTTTAAGACCTCCTCCA 0.453000 22 43 1.10513e-12 1.21208e-12 1 1 0 DUS1L 64118 broad.mit.edu 37 17 80019841 80019841 + Missense_Mutation SNP G G A TCGA-V1-A9OL-01A-11D-A41K-08 TCGA-V1-A9OL-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10d212ad-7a3d-4bb9-849e-3bcf4fcdf741 8630a7bf-bde9-4726-ac4d-8641b8365de9 g.chr17:80019841G>A ENST00000354321.7 - 5 1014 c.529C>T c.(529-531)Cgc>Tgc p.R177C DUS1L_ENST00000306796.5_Missense_Mutation_p.R177C Q6P1R4 DUS1L_HUMAN dihydrouridine synthase 1-like (S. cerevisiae) 177 tRNA processing flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity breast(1)|endometrium(1)|lung(2)|ovary(1)|skin(1) 6 all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211) TCCTTGGTGCGTCCGTGCACC 0.667000 29 40 0 0 1 0 0 COL21A1 0 broad.mit.edu 37 6 55932100 55932100 + Missense_Mutation SNP C C A TCGA-V1-A9OL-01A-11D-A41K-08 TCGA-V1-A9OL-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10d212ad-7a3d-4bb9-849e-3bcf4fcdf741 8630a7bf-bde9-4726-ac4d-8641b8365de9 g.chr6:55932100C>A ENST00000244728.5 - 23 2517 c.2120G>T c.(2119-2121)gGt>gTt p.G707V COL21A1_ENST00000370819.1_Missense_Mutation_p.G704V|COL21A1_ENST00000370808.2_Missense_Mutation_p.G107V|COL21A1_ENST00000467045.1_5'UTR|COL21A1_ENST00000535941.1_Missense_Mutation_p.G707V NM_030820.3 NP_110447.2 Q96P44 COLA1_HUMAN collagen, type XXI, alpha 1 707 Collagen-like 4. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2) 41 Lung NSC(77;0.0483) LUSC - Lung squamous cell carcinoma(124;0.181) TACCTGAATACCTTTTTCACC 0.294000 13 22 2.62699e-14 2.92845e-14 1 1 0 NCOR2 9612 broad.mit.edu 37 12 124856836 124856836 + Missense_Mutation SNP C C T TCGA-V1-A9OL-01A-11D-A41K-08 TCGA-V1-A9OL-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10d212ad-7a3d-4bb9-849e-3bcf4fcdf741 8630a7bf-bde9-4726-ac4d-8641b8365de9 g.chr12:124856836C>T ENST00000356219.3 - 21 2694 c.2539G>A c.(2539-2541)Gcg>Acg p.A847T NCOR2_ENST00000429285.2_Missense_Mutation_p.A829T|NCOR2_ENST00000404621.1_Missense_Mutation_p.A829T|NCOR2_ENST00000405201.1_Missense_Mutation_p.A847T|NCOR2_ENST00000404121.2_Missense_Mutation_p.A400T|NCOR2_ENST00000397355.1_Missense_Mutation_p.A830T NM_006312.5 NP_006303.4 Q9Y618 NCOR2_HUMAN nuclear receptor corepressor 2 847 cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent nuclear body|nucleus|transcriptional repressor complex DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_neural(191;0.0804)|Medulloblastoma(191;0.163) Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764) TCCTCAGCCGCGGGGGGCTTC 0.697000 8 22 0 0 1 0 0 CLPB 81570 broad.mit.edu 37 11 72006547 72006547 + Missense_Mutation SNP G G A rs149985372 byFrequency TCGA-V1-A9OL-01A-11D-A41K-08 TCGA-V1-A9OL-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10d212ad-7a3d-4bb9-849e-3bcf4fcdf741 8630a7bf-bde9-4726-ac4d-8641b8365de9 g.chr11:72006547G>A ENST00000294053.3 - 13 1738 c.1565C>T c.(1564-1566)gCc>gTc p.A522V CLPB_ENST00000437826.2_Missense_Mutation_p.A477V|CLPB_ENST00000538021.1_Missense_Mutation_p.A130V|CLPB_ENST00000340729.5_Missense_Mutation_p.A463V|CLPB_ENST00000543042.1_Missense_Mutation_p.A321V|CLPB_ENST00000538039.1_Missense_Mutation_p.A492V NM_001258394.1|NM_030813.4 NP_001245323.1|NP_110440.1 Q9H078 CLPB_HUMAN ClpB caseinolytic peptidase B homolog (E. coli) 522 cellular response to heat ATP binding|nucleoside-triphosphatase activity|protein binding endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 19 CAGGTTTTCGGCAATACGGTT 0.602000 3 40 0 0 1 0 0 AQPEP 0 broad.mit.edu 37 5 115298662 115298662 + Missense_Mutation SNP G G T TCGA-V1-A9OL-01A-11D-A41K-08 TCGA-V1-A9OL-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10d212ad-7a3d-4bb9-849e-3bcf4fcdf741 8630a7bf-bde9-4726-ac4d-8641b8365de9 g.chr5:115298662G>T ENST00000357872.4 + 1 472 c.348G>T c.(346-348)agG>agT p.R116S AQPEP_ENST00000395528.2_5'UTR NM_173800.4 NP_776161.3 Q6Q4G3 AMPQ_HUMAN 116 proteolysis integral to membrane metallopeptidase activity|zinc ion binding CGCAGCTGAGGCCCGACGAGC 0.697000 23 38 6.12954e-19 7.18635e-19 1 1 0 MYO7B 4648 broad.mit.edu 37 2 128335755 128335755 + Silent SNP C C T TCGA-V1-A9OL-01A-11D-A41K-08 TCGA-V1-A9OL-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10d212ad-7a3d-4bb9-849e-3bcf4fcdf741 8630a7bf-bde9-4726-ac4d-8641b8365de9 g.chr2:128335755C>T ENST00000389524.4 + 9 950 c.897C>T c.(895-897)gcC>gcT p.A299A MYO7B_ENST00000428314.1_Silent_p.A299A|MYO7B_ENST00000409816.2_Silent_p.A299A Q6PIF6 MYO7B_HUMAN myosin VIIB 299 Myosin head-like. apical plasma membrane|myosin complex actin binding|ATP binding|motor activity breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1) 75 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0753) AGGACTACGCCCACATCCGCT 0.627000 5 14 0 0 1 0 0 NEU4 129807 broad.mit.edu 37 2 242757477 242757477 + Nonsense_Mutation SNP T T A TCGA-V1-A9OL-01A-11D-A41K-08 TCGA-V1-A9OL-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10d212ad-7a3d-4bb9-849e-3bcf4fcdf741 8630a7bf-bde9-4726-ac4d-8641b8365de9 g.chr2:242757477T>A ENST00000391969.2 + 5 1269 c.558T>A c.(556-558)tgT>tgA p.C186* NEU4_ENST00000405370.1_Nonsense_Mutation_p.C186*|NEU4_ENST00000404257.1_Nonsense_Mutation_p.C198*|NEU4_ENST00000325935.6_Nonsense_Mutation_p.C199*|NEU4_ENST00000407683.1_Nonsense_Mutation_p.C186* NM_001167602.1 NP_001161074.1 Q8WWR8 NEUR4_HUMAN sialidase 4 186 lysosomal lumen|organelle inner membrane exo-alpha-sialidase activity|protein binding breast(1)|lung(10)|prostate(2)|skin(2) 15 all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825) GCCGAGAGTGTTTTGGCAAGA 0.677000 8 15 0 0 1 0 0 GTSF1L 149699 broad.mit.edu 37 20 42354963 42354963 + Missense_Mutation SNP C C A TCGA-V1-A9OL-01A-11D-A41K-08 TCGA-V1-A9OL-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10d212ad-7a3d-4bb9-849e-3bcf4fcdf741 8630a7bf-bde9-4726-ac4d-8641b8365de9 g.chr20:42354963C>A ENST00000373003.1 - 1 675 c.372G>T c.(370-372)aaG>aaT p.K124N GTSF1L_ENST00000373005.2_Missense_Mutation_p.K99N NM_001008901.1|NM_176791.3 NP_001008901.1|NP_789761.1 Q9H1H1 GTSFL_HUMAN gametocyte specific factor 1-like 124 metal ion binding endometrium(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1) 5 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.0031) CACAAACAACCTTTTGAGGAA 0.502000 45 60 3.43241e-23 4.09481e-23 1 1 0 NR4A1 0 broad.mit.edu 37 12 52448435 52448435 + Missense_Mutation SNP T T G TCGA-V1-A9OL-01A-11D-A41K-08 TCGA-V1-A9OL-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10d212ad-7a3d-4bb9-849e-3bcf4fcdf741 8630a7bf-bde9-4726-ac4d-8641b8365de9 g.chr12:52448435T>G ENST00000545748.1 + 3 1480 c.485T>G c.(484-486)gTg>gGg p.V162G NR4A1_ENST00000360284.3_Missense_Mutation_p.V121G|NR4A1_ENST00000394824.2_Missense_Mutation_p.V108G|NR4A1_ENST00000394825.1_Missense_Mutation_p.V108G|NR4A1_ENST00000550082.1_Missense_Mutation_p.V121G|NR4A1_ENST00000548232.1_Missense_Mutation_p.V108G|NR4A1_ENST00000547206.1_3'UTR|NR4A1_ENST00000243050.1_Missense_Mutation_p.V108G P22736 NR4A1_HUMAN nuclear receptor subfamily 4, group A, member 1 108 nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor steroid hormone receptor activity|zinc ion binding endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2) 16 BRCA - Breast invasive adenocarcinoma(357;0.0967) GACTTCCAGGTGTACGGCTGC 0.672000 15 45 0 0 1 0 0 POU5F1B 5462 broad.mit.edu 37 8 128428597 128428597 + Nonsense_Mutation SNP T T G TCGA-V1-A9OL-01A-11D-A41K-08 TCGA-V1-A9OL-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10d212ad-7a3d-4bb9-849e-3bcf4fcdf741 8630a7bf-bde9-4726-ac4d-8641b8365de9 g.chr8:128428597T>G ENST00000465342.2 + 2 1643 c.486T>G c.(484-486)taT>taG p.Y162* CASC8_ENST00000501396.1_RNA|CASC8_ENST00000523825.1_RNA|POU5F1B_ENST00000391675.1_Nonsense_Mutation_p.Y162*|CASC8_ENST00000502082.1_RNA Q06416 P5F1B_HUMAN POU class 5 homeobox 1B 162 POU-specific. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity lung(1)|prostate(1)|urinary_tract(1) 3 CCCTGGGATATACACAGGCCG 0.517000 3 16 0 0 1 0 0 FKBP4 2288 broad.mit.edu 37 12 2909556 2909556 + Splice_Site SNP A A G TCGA-V1-A9OL-01A-11D-A41K-08 TCGA-V1-A9OL-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10d212ad-7a3d-4bb9-849e-3bcf4fcdf741 8630a7bf-bde9-4726-ac4d-8641b8365de9 g.chr12:2909556A>G ENST00000001008.4 + 8 1033 c.e8-1 RP4-816N1.7_ENST00000547042.1_RNA|RP4-816N1.6_ENST00000547834.1_RNA NM_002014.3 NP_002005.1 Q02790 FKBP4_HUMAN FK506 binding protein 4, 59kDa negative regulation of microtubule polymerization or depolymerization|negative regulation of neuron projection development|protein folding axonal growth cone|cytosol|membrane|microtubule|nucleus FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity|protein binding, bridging breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(1) 14 OV - Ovarian serous cystadenocarcinoma(31;0.00105) Dimethyl sulfoxide(DB01093) CTCCCATTCCAGGAAGGTAAA 0.468000 13 16 0 0 1 0 0 AJ271736.10 0 broad.mit.edu 37 X 155252868 155252868 + RNA SNP T T A TCGA-V1-A9OL-01A-11D-A41K-08 TCGA-V1-A9OL-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10d212ad-7a3d-4bb9-849e-3bcf4fcdf741 8630a7bf-bde9-4726-ac4d-8641b8365de9 g.chrX:155252868T>A ENST00000285718.7 + 0 819 WASH6P_ENST00000461007.1_RNA p.P304P(5) TAGCCGAGCCTCTCAAGGCAG 0.632000 4 6 0 0 1 0 0 IGHV3-43 0 broad.mit.edu 37 14 106926482 106926482 + RNA SNP T T C TCGA-V1-A9OL-01A-11D-A41K-08 TCGA-V1-A9OL-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10d212ad-7a3d-4bb9-849e-3bcf4fcdf741 8630a7bf-bde9-4726-ac4d-8641b8365de9 g.chr14:106926482T>C ENST00000434710.1 - 0 139 CCAGCTGCACTTCACACTGGA 0.527000 4 170 0 0 1 0 0 ITGA9 3680 broad.mit.edu 37 3 37792013 37792013 + Missense_Mutation SNP C C G TCGA-V1-A9OL-01A-11D-A41K-08 TCGA-V1-A9OL-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10d212ad-7a3d-4bb9-849e-3bcf4fcdf741 8630a7bf-bde9-4726-ac4d-8641b8365de9 g.chr3:37792013C>G ENST00000264741.5 + 23 2750 c.2494C>G c.(2494-2496)Cga>Gga p.R832G AC093415.2_ENST00000449586.1_RNA NM_002207.2 NP_002198.2 Q13797 ITA9_HUMAN integrin, alpha 9 832 axon guidance|cell adhesion|integrin-mediated signaling pathway integrin complex receptor activity p.R832*(1) breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1) 44 KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197) TTTCCCTAATCGACTCTCATC 0.488000 23 50 0 0 1 0 0 RGL3 57139 broad.mit.edu 37 19 11516074 11516074 + Missense_Mutation SNP G G A TCGA-V1-A9OL-01A-11D-A41K-08 TCGA-V1-A9OL-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10d212ad-7a3d-4bb9-849e-3bcf4fcdf741 8630a7bf-bde9-4726-ac4d-8641b8365de9 g.chr19:11516074G>A ENST00000380456.3 - 8 1088 c.1025C>T c.(1024-1026)tCc>tTc p.S342F RGL3_ENST00000393423.3_Missense_Mutation_p.S342F NM_001035223.2|NM_001161616.1 NP_001030300.2|NP_001155088.1 Q3MIN7 RGL3_HUMAN ral guanine nucleotide dissociation stimulator-like 3 342 Ras-GEF. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular breast(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)|skin(1) 18 GGCGCGCAAGGAGGAGAAGTT 0.617000 4 2 0 0 1 0 0 SEMA6A 57556 broad.mit.edu 37 5 115783231 115783231 + Missense_Mutation SNP G G A TCGA-V1-A9OL-01A-11D-A41K-08 TCGA-V1-A9OL-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10d212ad-7a3d-4bb9-849e-3bcf4fcdf741 8630a7bf-bde9-4726-ac4d-8641b8365de9 g.chr5:115783231G>A ENST00000343348.6 - 19 2958 c.2171C>T c.(2170-2172)aCg>aTg p.T724M SEMA6A_ENST00000510263.1_Missense_Mutation_p.T724M|SEMA6A_ENST00000503865.1_Missense_Mutation_p.T103M|SEMA6A_ENST00000282394.6_Missense_Mutation_p.T201M|SEMA6A_ENST00000257414.8_Missense_Mutation_p.T741M|SEMA6A_ENST00000513137.1_Missense_Mutation_p.T151M NM_020796.3 NP_065847.1 Q9H2E6 SEM6A_HUMAN sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A 724 apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis axon|integral to membrane|plasma membrane receptor activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203) OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151) CATGAGTGGCGTGAGGATGGC 0.632000 5 199 0 0 1 0 0 SLC30A2 7780 broad.mit.edu 37 1 26371585 26371585 + Silent SNP A A G TCGA-V1-A9OL-01A-11D-A41K-08 TCGA-V1-A9OL-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10d212ad-7a3d-4bb9-849e-3bcf4fcdf741 8630a7bf-bde9-4726-ac4d-8641b8365de9 g.chr1:26371585A>G ENST00000374278.3 - 2 390 c.174T>C c.(172-174)ggT>ggC p.G58G SLC30A2_ENST00000498060.1_5'UTR|SLC30A2_ENST00000374276.3_Silent_p.G58G NM_032513.3 NP_115902.1 Q9BRI3 ZNT2_HUMAN solute carrier family 30 (zinc transporter), member 2 58 positive regulation of sequestering of zinc ion|zinc ion transport integral to membrane|late endosome|lysosomal membrane cation transmembrane transporter activity cervix(1)|endometrium(2)|kidney(1)|lung(8)|stomach(1) 13 Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.09e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00614)|READ - Rectum adenocarcinoma(331;0.0649) GACTGTCAGGACCCTTCTGAG 0.592000 35 70 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628296 29628296 + Nonsense_Mutation SNP A A T TCGA-V1-A9OL-01A-11D-A41K-08 TCGA-V1-A9OL-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10d212ad-7a3d-4bb9-849e-3bcf4fcdf741 8630a7bf-bde9-4726-ac4d-8641b8365de9 g.chr20:29628296A>T ENST00000278882.3 + 6 678 c.298A>T c.(298-300)Aaa>Taa p.K100* FRG1B_ENST00000358464.4_Nonsense_Mutation_p.K100*|FRG1B_ENST00000439954.2_Nonsense_Mutation_p.K105* endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 CATAGAAGCAAAAAGTAAAAC 0.363000 7 67 0 0 1 0 0 ZNF814 730051 broad.mit.edu 37 19 58385546 58385546 + Missense_Mutation SNP G G T TCGA-V1-A9OL-01A-11D-A41K-08 TCGA-V1-A9OL-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10d212ad-7a3d-4bb9-849e-3bcf4fcdf741 8630a7bf-bde9-4726-ac4d-8641b8365de9 g.chr19:58385546G>T ENST00000435989.2 - 3 1446 c.1212C>A c.(1210-1212)gaC>gaA p.D404E ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000595295.1_Intron NM_001144989.1 NP_001138461.1 B7Z6K7 ZN814_HUMAN zinc finger protein 814 404 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding p.D404E(10) NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3) 25 AATGTTTTTTGTCAGTGTGAA 0.393000 3 10 0.115264 0.116984 1 1 0 TGOLN2 10618 broad.mit.edu 37 2 85554607 85554607 + Missense_Mutation SNP T T C TCGA-V1-A9OL-01A-11D-A41K-08 TCGA-V1-A9OL-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10d212ad-7a3d-4bb9-849e-3bcf4fcdf741 8630a7bf-bde9-4726-ac4d-8641b8365de9 g.chr2:85554607T>C ENST00000377386.3 - 2 710 c.248A>G c.(247-249)aAg>aGg p.K83R TGOLN2_ENST00000409232.3_Missense_Mutation_p.K83R|TGOLN2_ENST00000409015.1_Missense_Mutation_p.K83R|TGOLN2_ENST00000398263.2_Missense_Mutation_p.K83R|TGOLN2_ENST00000444342.2_Missense_Mutation_p.K83R|TGOLN2_ENST00000282120.2_Intron O43493 TGON2_HUMAN trans-golgi network protein 2 83 14 X 14 AA tandem repeats. integral to membrane|nucleus|plasma membrane|trans-Golgi network|transport vesicle protein binding CGCACCCGACTTGTTGGGGGT 0.602000 6 461 0 0 1 0 0 TRPC5 7224 broad.mit.edu 37 X 111156017 111156017 + Silent SNP C C A TCGA-V1-A9OL-01A-11D-A41K-08 TCGA-V1-A9OL-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10d212ad-7a3d-4bb9-849e-3bcf4fcdf741 8630a7bf-bde9-4726-ac4d-8641b8365de9 g.chrX:111156017C>A ENST00000262839.2 - 3 1320 c.402G>T c.(400-402)acG>acT p.T134T NM_012471.2 NP_036603.1 Q9UL62 TRPC5_HUMAN transient receptor potential cation channel, subfamily C, member 5 134 axon guidance calcium channel complex|integral to plasma membrane protein binding|store-operated calcium channel activity biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 CAGAGAACTGCGTGTCCATCA 0.458000 5 28 3.59834e-05 3.76441e-05 1 1 0 IARS2 55699 broad.mit.edu 37 1 220300180 220300180 + Missense_Mutation SNP T T G TCGA-V1-A9OL-01A-11D-A41K-08 TCGA-V1-A9OL-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10d212ad-7a3d-4bb9-849e-3bcf4fcdf741 8630a7bf-bde9-4726-ac4d-8641b8365de9 g.chr1:220300180T>G ENST00000366922.1 + 14 1947 c.1616T>G c.(1615-1617)cTt>cGt p.L539R IARS2_ENST00000302637.5_Missense_Mutation_p.L611R Q9NSE4 SYIM_HUMAN isoleucyl-tRNA synthetase 2, mitochondrial 611 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) TCTTATGTTCTTCCAGGTAAT 0.363000 37 28 0 0 1 0 0 C7orf55-LUC7L2 0 broad.mit.edu 37 7 139094365 139094366 + Frame_Shift_Del DEL AG AG - TCGA-V1-A9OL-01A-11D-A41K-08 TCGA-V1-A9OL-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10d212ad-7a3d-4bb9-849e-3bcf4fcdf741 8630a7bf-bde9-4726-ac4d-8641b8365de9 g.chr7:139094365_139094366delAG ENST00000354926.4 + 7 1098_1099 c.744_745delAG c.(742-747)gaagfs p.EE248fs C7orf55-LUC7L2_ENST00000541170.3_Frame_Shift_Del_p.EE245fs|LUC7L2_ENST00000541515.3_Frame_Shift_Del_p.EE314fs|C7orf55-LUC7L2_ENST00000263545.6_Frame_Shift_Del_p.EE247fs NM_016019.3 NP_057103.2 AACGAAGAGAAGAGAGAGAGAG 0.391 3 3 --- --- --- --- FAM83A 84985 broad.mit.edu 37 8 124219887 124219887 + Frame_Shift_Del DEL C C - TCGA-V1-A9OL-01A-11D-A41K-08 TCGA-V1-A9OL-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10d212ad-7a3d-4bb9-849e-3bcf4fcdf741 8630a7bf-bde9-4726-ac4d-8641b8365de9 g.chr8:124219887delC ENST00000518448.1 + 5 3278 c.1264delC c.(1264-1266)cafs p.P422fs FAM83A_ENST00000546351.1_Intron|FAM83A_ENST00000536633.1_Intron|FAM83A_ENST00000318462.6_Frame_Shift_Del_p.P422fs|FAM83A_ENST00000276699.6_Intron|FAM83A_ENST00000522648.1_Intron Q86UY5 FA83A_HUMAN family with sequence similarity 83, member A 422 breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1) 17 Lung NSC(37;1.55e-09)|Ovarian(258;0.0205) STAD - Stomach adenocarcinoma(47;0.00527) GAGGCTGACTCCAACCTGGAG 0.706 2 4 --- --- --- ---