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 BTN2A3P 0 broad.mit.edu 37 6 26422353 26422353 + RNA SNP C C T rs141013110 TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr6:26422353C>T ENST00000466808.2 + 0 7 p.P3S(2) GCTCATGGAACCAGCTGCTGC 0.622000 8 369 0 0 1 0 0 RP11-423O2.5 0 broad.mit.edu 37 1 142803629 142803629 + RNA SNP G G A TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr1:142803629G>A ENST00000423385.1 - 0 1336 actaatatctgttgagtgttg 0.308000 7 204 0 0 1 0 0 CAB39L 81617 broad.mit.edu 37 13 49951138 49951138 + Missense_Mutation SNP T T C TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr13:49951138T>C ENST00000355854.4 - 3 738 c.241A>G c.(241-243)Aca>Gca p.T81A CAB39L_ENST00000410043.1_Missense_Mutation_p.T81A|CAB39L_ENST00000347776.5_Missense_Mutation_p.T81A|CAB39L_ENST00000409308.1_Missense_Mutation_p.T81A NM_030925.2 NP_112187.2 Q9H9S4 CB39L_HUMAN calcium binding protein 39-like 81 cell cycle arrest|insulin receptor signaling pathway|regulation of fatty acid oxidation cytosol protein binding breast(1)|endometrium(2)|large_intestine(4)|lung(3)|pancreas(1)|stomach(1) 12 Lung NSC(96;2.11e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;3.66e-09)|COAD - Colon adenocarcinoma(199;0.226) GCTATCAGTGTCACTAGCAGG 0.433000 210 367 0 0 1 0 0 MIR129-2 0 broad.mit.edu 37 11 43602960 43602960 + RNA SNP T T C TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr11:43602960T>C ENST00000362207.1 + 0 17 NR_029697.1 TCGCGAATCTTTTTGCGGTCT 0.592000 82 12 0 0 1 0 0 ZMYND19 116225 broad.mit.edu 37 9 140481540 140481540 + Missense_Mutation SNP C C A TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr9:140481540C>A ENST00000298585.2 - 4 464 c.238G>T c.(238-240)Gtg>Ttg p.V80L ZMYND19_ENST00000471957.1_5'UTR NM_138462.2 NP_612471.1 Q96E35 ZMY19_HUMAN zinc finger, MYND-type containing 19 80 Golgi apparatus|plasma membrane zinc ion binding endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1) 13 all_cancers(76;0.106) OV - Ovarian serous cystadenocarcinoma(145;0.000275)|Epithelial(140;0.00047) CCCGGGGCCACGCCCCCCCGG 0.632000 5 465 0.27861 0.27861 1 1 0 RRN3P2 0 broad.mit.edu 37 16 29088081 29088081 + RNA SNP C C A TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr16:29088081C>A ENST00000564580.1 + 0 251 AAGTACAAAACGGTAAGAGGA 0.358000 4 214 0.00116845 0.00119456 1 1 0 SNX32 254122 broad.mit.edu 37 11 65618619 65618619 + Missense_Mutation SNP C C T rs147615662 byFrequency TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr11:65618619C>T ENST00000308342.6 + 7 1122 c.697C>T c.(697-699)Cgc>Tgc p.R233C NM_152760.2 NP_689973.2 Q86XE0 SNX32_HUMAN sorting nexin 32 233 cell communication|protein transport phosphatidylinositol binding p.R233C(1) endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 READ - Rectum adenocarcinoma(159;0.171) CCGCGTCATGCGCGCCCACAA 0.632000 OREG0021087 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 478 0 0 1 0 0 KLRC4-KLRK1 0 broad.mit.edu 37 12 10561520 10561520 + Missense_Mutation SNP G G A TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr12:10561520G>A ENST00000539300.1 - 2 250 c.251C>T c.(250-252)tCt>tTt p.S84F KLRC4_ENST00000309384.1_Missense_Mutation_p.L93F CAAGGAATAAGAACTATTGTT 0.383000 120 325 0 0 1 0 0 ZNF28 7576 broad.mit.edu 37 19 53304126 53304126 + Silent SNP C C T TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr19:53304126C>T ENST00000438150.2 - 2 1706 c.813G>A c.(811-813)ggG>ggA p.G271G ZNF28_ENST00000414252.2_Silent_p.G271G|ZNF28_ENST00000457749.2_Silent_p.G324G|ZNF28_ENST00000360272.4_Silent_p.G271G P17035 ZNF28_HUMAN zinc finger protein 28 324 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145) TGTATGGTTTCCCTCCAGTAT 0.353000 166 359 0 0 1 0 0 SLC25A6 293 broad.mit.edu 37 X 1508304 1508304 + Missense_Mutation SNP G G A TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chrX:1508304G>A ENST00000381401.5 - 2 1142 c.428C>T c.(427-429)gCg>gTg p.A143V SLC25A6_ENST00000475167.1_5'UTR NM_001636.3 NP_001627.2 P12236 ADT3_HUMAN solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6 143 active induction of host immune response by virus|apoptosis|energy reserve metabolic process|regulation of insulin secretion|viral infectious cycle integral to membrane|mitochondrial inner membrane presequence translocase complex ATP:ADP antiporter activity|protein binding haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|upper_aerodigestive_tract(1) 11 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) Clodronate(DB00720) TCCCACGTCCGCTGCCAGGCG 0.672000 6 537 0 0 1 0 0 URB2 9816 broad.mit.edu 37 1 229773136 229773136 + Missense_Mutation SNP G G A TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr1:229773136G>A ENST00000258243.2 + 4 2912 c.2776G>A c.(2776-2778)Gtc>Atc p.V926I NM_014777.2 NP_055592.2 Q14146 URB2_HUMAN URB2 ribosome biogenesis 2 homolog (S. cerevisiae) 926 nucleolus breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6) 73 GTCCATGGCCGTCACCAAACT 0.483000 6 763 0 0 1 0 0 ACY3 91703 broad.mit.edu 37 11 67410228 67410228 + Silent SNP G G A rs149837610 TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr11:67410228G>A ENST00000255082.3 - 8 1097 c.927C>T c.(925-927)ccC>ccT p.P309P ACY3_ENST00000529256.1_Silent_p.P188P NM_080658.1 NP_542389.1 Q96HD9 ACY3_HUMAN aspartoacylase (aminocyclase) 3 309 interspecies interaction between organisms apical plasma membrane|cytoplasm hydrolase activity, acting on ester bonds|metal ion binding endometrium(1)|lung(5)|prostate(2) 8 L-Aspartic Acid(DB00128) GGGTCAGCGCGGGCATGGCAG 0.587000 6 341 0 0 1 0 0 CNN2 1265 broad.mit.edu 37 19 1037794 1037794 + Silent SNP G G A TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr19:1037794G>A ENST00000263097.4 + 7 1188 c.825G>A c.(823-825)ccG>ccA p.P275P CNN2_ENST00000348419.3_Silent_p.P236P|CNN2_ENST00000565096.2_Silent_p.P264P|CNN2_ENST00000562958.2_Silent_p.P296P|CNN2_ENST00000606983.1_3'UTR NM_004368.2 NP_004359.1 Q99439 CNN2_HUMAN calponin 2 275 actomyosin structure organization|cellular response to mechanical stimulus|regulation of actin filament-based process cell-cell junction|stress fiber actin binding|calmodulin binding endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(3) 10 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) AGTACTGCCCGCAAGGCACAG 0.672000 8 954 0 0 1 0 0 KNG1 3827 broad.mit.edu 37 3 186442938 186442938 + Silent SNP G G A TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr3:186442938G>A ENST00000265023.4 + 4 665 c.453G>A c.(451-453)acG>acA p.T151T RP11-573D15.8_ENST00000599314.1_RNA|KNG1_ENST00000447445.1_Silent_p.T151T|KNG1_ENST00000287611.2_Silent_p.T151T NM_001102416.2 NP_001095886.1 P01042 KNG1_HUMAN kininogen 1 151 Cystatin 2.|O-glycosylated at one site only. blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation extracellular space|plasma membrane|platelet alpha granule lumen cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2) 21 all_cancers(143;8.96e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;4.12e-20) GBM - Glioblastoma multiforme(93;0.0798) Ouabain(DB01092) CTATATCAACGCAGAGCCCAG 0.493000 4 180 0 0 1 0 0 RNF114 55905 broad.mit.edu 37 20 48561967 48561967 + Missense_Mutation SNP C C G TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr20:48561967C>G ENST00000244061.2 + 3 342 c.340C>G c.(340-342)Cag>Gag p.Q114E NM_018683.3 NP_061153.1 Q9Y508 RN114_HUMAN ring finger protein 114 114 cell differentiation|multicellular organismal development|spermatogenesis intracellular zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|lung(1)|ovary(1) 5 TTCCAAATACCAGAATTACAT 0.478000 150 215 0 0 1 0 0 LPIN3 64900 broad.mit.edu 37 20 39978499 39978499 + Missense_Mutation SNP T T C TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr20:39978499T>C ENST00000373257.3 + 6 815 c.724T>C c.(724-726)Tcc>Ccc p.S242P NM_022896.1 NP_075047.1 Q9BQK8 LPIN3_HUMAN lipin 3 242 fatty acid metabolic process nucleus phosphatidate phosphatase activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Myeloproliferative disorder(115;0.000739) AAGAGCCGAGTCCCACATGCA 0.642000 10 381 0 0 1 0 0 NBPF1 55672 broad.mit.edu 37 1 16918653 16918653 + Splice_Site SNP C C T TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr1:16918653C>T ENST00000430580.2 - 6 853 c.e6+1 NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TCTTAACTTACTGTTGTGAAA 0.418000 8 309 0 0 1 0 0 SPATA22 84690 broad.mit.edu 37 17 3370783 3370783 + Missense_Mutation SNP G G T rs145051415 byFrequency TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr17:3370783G>T ENST00000573128.1 - 3 592 c.109C>A c.(109-111)Ctt>Att p.L37I SPATA22_ENST00000268981.5_Missense_Mutation_p.L37I|SPATA22_ENST00000397168.3_Missense_Mutation_p.L37I|SPATA22_ENST00000572969.1_Missense_Mutation_p.L37I|SPATA22_ENST00000575375.1_Missense_Mutation_p.L37I|SPATA22_ENST00000355380.4_Intron|SPATA22_ENST00000541913.1_Missense_Mutation_p.L37I Q8NHS9 SPT22_HUMAN spermatogenesis associated 22 37 breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2) 19 TCATCTTTAAGTGGATTAGAA 0.328000 141 458 3.7336e-74 4.21758e-74 1 1 0 ZNF479 90827 broad.mit.edu 37 7 57187780 57187780 + Missense_Mutation SNP A A C TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr7:57187780A>C ENST00000331162.4 - 5 1612 c.1342T>G c.(1342-1344)Tta>Gta p.L448V NM_033273.1 NP_150376.1 Q96JC4 ZN479_HUMAN zinc finger protein 479 448 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 84 GBM - Glioblastoma multiforme(1;9.18e-12) GTTGAGGATAAGCTAAAGGCT 0.438000 8 827 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22664186 22664186 + RNA SNP A A G TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr22:22664186A>G ENST00000426066.1 + 0 709 NR_027293.1 CAGATCAAGAAAGCACTCTGA 0.498000 6 180 0 0 1 0 0 SPZ1 84654 broad.mit.edu 37 5 79616605 79616605 + Missense_Mutation SNP C C G TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr5:79616605C>G ENST00000296739.4 + 1 816 c.571C>G c.(571-573)Cag>Gag p.Q191E NM_032567.3 NP_115956.3 Q9BXG8 SPZ1_HUMAN spermatogenic leucine zipper 1 191 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2) 26 Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113) OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36) AAAGAAACAGCAGATGATAAT 0.353000 5 431 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628273 29628273 + Missense_Mutation SNP A A G TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr20:29628273A>G ENST00000278882.3 + 6 655 c.275A>G c.(274-276)aAt>aGt p.N92S FRG1B_ENST00000358464.4_Missense_Mutation_p.N92S|FRG1B_ENST00000439954.2_Missense_Mutation_p.N97S endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATTAGATGCAATGAAGCAGGG 0.373000 6 715 0 0 1 0 0 ZNF799 90576 broad.mit.edu 37 19 12501560 12501560 + Missense_Mutation SNP T T C TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr19:12501560T>C ENST00000419318.1 - 4 2305 c.1556A>G c.(1555-1557)gAa>gGa p.E519G CTD-3105H18.14_ENST00000435033.1_Intron|ZNF799_ENST00000430385.3_Missense_Mutation_p.E551G Q96GE5 ZN799_HUMAN zinc finger protein 799 551 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2) 19 GTGAATTCTTTCATGTCGTAG 0.393000 5 592 0 0 1 0 0 HSPA1A 3303 broad.mit.edu 37 6 31785295 31785295 + Missense_Mutation SNP G G A TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr6:31785295G>A ENST00000375651.5 + 1 2005 c.1762G>A c.(1762-1764)Gag>Aag p.E588K HSPA1A_ENST00000458062.2_Missense_Mutation_p.E497K NM_005345.5 NP_005336.3 P08107 HSP71_HUMAN heat shock 70kDa protein 1A 588 anti-apoptosis|mRNA catabolic process|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of inclusion body assembly|protein refolding|response to unfolded protein cytosol|endoplasmic reticulum|inclusion body|mitochondrion|nuclear speck|perinuclear region of cytoplasm|ribonucleoprotein complex ATP binding|protein binding involved in protein folding|protein N-terminus binding|receptor activity|ubiquitin protein ligase binding|unfolded protein binding endometrium(1)|ovary(1)|stomach(1) 3 CACCTTGGCCGAGAAGGACGA 0.607000 115 63 0 0 1 0 0 OTOP3 347741 broad.mit.edu 37 17 72937715 72937715 + Missense_Mutation SNP C C A TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr17:72937715C>A ENST00000328801.4 + 2 301 c.301C>A c.(301-303)Ctg>Atg p.L101M NM_178233.1 NP_839947.1 Q7RTS5 OTOP3_HUMAN otopetrin 3 101 integral to membrane|intracellular zinc ion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 all_lung(278;0.151)|Lung NSC(278;0.185) TGTGGTGTTCCTGGGTGGCGC 0.622000 166 105 1.07822e-63 1.20313e-63 1 1 0 RRAD 6236 broad.mit.edu 37 16 66956180 66956180 + Silent SNP C C A rs139165037 TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr16:66956180C>A ENST00000299759.6 - 5 976 c.726G>T c.(724-726)gcG>gcT p.A242A RRAD_ENST00000420652.1_Silent_p.A242A P55042 RAD_HUMAN Ras-related associated with diabetes 242 small GTPase mediated signal transduction plasma membrane calmodulin binding|GTP binding|GTPase activity endometrium(2)|kidney(4)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|urinary_tract(1) 17 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0862)|Epithelial(162;0.198) CTTCAAACAGCGCCTGGACAT 0.622000 163 31 7.08382e-60 7.8566e-60 1 1 0 PFAS 5198 broad.mit.edu 37 17 8157542 8157542 + Silent SNP C C T TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr17:8157542C>T ENST00000314666.6 + 3 334 c.201C>T c.(199-201)ccC>ccT p.P67P PFAS_ENST00000545834.1_5'UTR NM_012393.2 NP_036525.1 O15067 PUR4_HUMAN phosphoribosylformylglycinamidine synthase 67 'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process cytosol ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 35 L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) TTGGTTGCCCCTTACTGCTGG 0.602000 9 460 0 0 1 0 0 CCDC71L 168455 broad.mit.edu 37 7 106300652 106300652 + Missense_Mutation SNP G G A TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr7:106300652G>A ENST00000523505.1 - 1 790 c.691C>T c.(691-693)Ccg>Tcg p.P231S NM_175884.4 NP_787080.2 Q8N9Z2 YG034_HUMAN coiled-coil domain containing 71-like 231 endometrium(1) 1 CGGGGCACCGGGAAGCGGCGG 0.726000 OREG0018261 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 31 42 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628243 29628243 + Missense_Mutation SNP T T C TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr20:29628243T>C ENST00000278882.3 + 6 625 c.245T>C c.(244-246)tTg>tCg p.L82S FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S|FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S p.L82S(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGGCTTTGTTGGCCTCAAAT 0.363000 16 800 0 0 1 0 0 NSUN5 55695 broad.mit.edu 37 7 72722532 72722532 + Missense_Mutation SNP C C T TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr7:72722532C>T ENST00000428206.1 - 2 125 c.112G>A c.(112-114)Gcg>Acg p.A38T NSUN5_ENST00000252594.6_Missense_Mutation_p.A38T|NSUN5_ENST00000438747.2_Missense_Mutation_p.A38T|NSUN5_ENST00000310326.8_Missense_Mutation_p.A38T NM_001168348.1 NP_001161820.1 Q96P11 NSUN5_HUMAN NOP2/Sun domain family, member 5 38 methyltransferase activity breast(1)|endometrium(3)|large_intestine(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 8 Lung NSC(55;0.163) CACACCAGCGCGTACAGCTGC 0.716000 19 486 0 0 1 0 0 NME8 51314 broad.mit.edu 37 7 37927910 37927910 + Missense_Mutation SNP C C T TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr7:37927910C>T ENST00000199447.4 + 15 1651 c.1279C>T c.(1279-1281)Ccg>Tcg p.P427S NME8_ENST00000440017.1_Missense_Mutation_p.P427S|EPDR1_ENST00000476620.1_Intron NM_016616.4 NP_057700.3 Q8N427 TXND3_HUMAN NME/NM23 family member 8 427 NDK 2. cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process cytoplasm|microtubule cytoskeleton ATP binding|nucleoside diphosphate kinase activity GGACAGTTTGCCGGTCAACCA 0.368000 7 465 0 0 1 0 0 HSD17B7P2 0 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 8 170 0 0 1 0 0 METTL4 64863 broad.mit.edu 37 18 2566951 2566951 + Nonsense_Mutation SNP G G A TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr18:2566951G>A ENST00000319888.6 - 2 1063 c.265C>T c.(265-267)Cga>Tga p.R89* METTL4_ENST00000574538.1_Nonsense_Mutation_p.R89* Q8N3J2 METL4_HUMAN methyltransferase like 4 89 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process methyltransferase activity|nucleic acid binding breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|urinary_tract(1) 17 AGTTCAGGTCGAAAAACAAAT 0.378000 89 358 0 0 1 0 0 CHERP 10523 broad.mit.edu 37 19 16636214 16636214 + Missense_Mutation SNP G G A TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr19:16636214G>A ENST00000546361.2 - 10 1731 c.1580C>T c.(1579-1581)cCg>cTg p.P527L CHERP_ENST00000544299.1_5'UTR|CTD-3222D19.2_ENST00000409035.1_Intron|CHERP_ENST00000198939.6_Missense_Mutation_p.P538L NM_006387.5 NP_006378.3 Q8IWX8 CHERP_HUMAN calcium homeostasis endoplasmic reticulum protein 527 Pro-rich. cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing endoplasmic reticulum|perinuclear region of cytoplasm RNA binding endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3) 24 CTGGTGGGGCGGGAAGGGCCC 0.726000 3 37 0 0 1 0 0 NTRK1 4914 broad.mit.edu 37 1 156843643 156843643 + Missense_Mutation SNP G G A TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr1:156843643G>A ENST00000368196.3 + 8 1189 c.1069G>A c.(1069-1071)Ggc>Agc p.G357S NTRK1_ENST00000358660.3_Missense_Mutation_p.G357S|NTRK1_ENST00000524377.1_Missense_Mutation_p.G357S|NTRK1_ENST00000392302.2_Missense_Mutation_p.G327S NM_001012331.1 NP_001012331.1 P04629 NTRK1_HUMAN neurotrophic tyrosine kinase, receptor, type 1 357 Ig-like C2-type 2. activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction endosome|integral to plasma membrane ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 74 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) Imatinib(DB00619) CGTCAACAACGGCAACTACAC 0.622000 T """TPM3, TPR, TFG""" papillary thyroid TSP Lung(10;0.080) 18 48 0 0 1 0 0 FOXG1 2290 broad.mit.edu 37 14 29237840 29237840 + Missense_Mutation SNP C C T TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr14:29237840C>T ENST00000382535.3 + 2 1724 c.1355C>T c.(1354-1356)cCc>cTc p.P452L FOXG1_ENST00000313071.4_Missense_Mutation_p.P452L P55316 FOXG1_HUMAN forkhead box G1 452 axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|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 breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2) 43 LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575) GBM - Glioblastoma multiforme(265;0.00413) TCGACCCTGCCCTGTGAGTCT 0.592000 97 406 0 0 1 0 0 GTF2IRD2P1 0 broad.mit.edu 37 7 72663998 72663998 + RNA SNP T T G TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr7:72663998T>G ENST00000425256.1 - 0 902 NR_002164.1 ATAGCCGGGGTCCTTGAATAC 0.488000 5 358 0 0 1 0 0 PCDHB16 0 broad.mit.edu 37 5 140563238 140563238 + Silent SNP C C T TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr5:140563238C>T ENST00000361016.2 + 1 2259 c.1104C>T c.(1102-1104)ttC>ttT p.F368F NM_020957.1 NP_066008.1 Q9NRJ7 PCDBG_HUMAN 368 Cadherin 4. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1) 69 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TTGCTGTTTTCAGCGTTTCAG 0.493000 8 442 0 0 1 0 0 AKAP13 11214 broad.mit.edu 37 15 86266503 86266503 + Missense_Mutation SNP G G A TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr15:86266503G>A ENST00000394518.2 + 26 6792 c.6697G>A c.(6697-6699)Gta>Ata p.V2233I AKAP13_ENST00000560579.1_3'UTR|AKAP13_ENST00000361243.2_Missense_Mutation_p.V2237I|AKAP13_ENST00000394510.2_Missense_Mutation_p.V478I NM_001270546.1|NM_007200.3 NP_001257475.1|NP_009131.2 Q12802 AKP13_HUMAN A kinase (PRKA) anchor protein 13 2233 Interaction with ESR1.|PH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane|membrane fraction|nucleus cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 98 GAAGAAGCTTGTACGTGATGG 0.423000 112 135 0 0 1 0 0 CMYA5 202333 broad.mit.edu 37 5 79033053 79033053 + Missense_Mutation SNP C C T TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr5:79033053C>T ENST00000446378.2 + 2 8496 c.8465C>T c.(8464-8466)tCa>tTa p.S2822L NM_153610.3 NP_705838.3 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 2822 perinuclear region of cytoplasm NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1) 128 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) ACTCTTGCTTCAGGAGCTTCT 0.398000 155 81 0 0 1 0 0 IGHV4OR15-8 0 broad.mit.edu 37 15 22473333 22473333 + RNA SNP A A G TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr15:22473333A>G ENST00000557788.2 - 0 20 CCAGGAGGAGAAAGAACCACA 0.512000 10 310 0 0 1 0 0 PBX4 80714 broad.mit.edu 37 19 19672926 19672926 + Splice_Site SNP C C A TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr19:19672926C>A ENST00000251203.8 - 8 1319 c.1032_splice c.e8-1 p.A345_splice NM_025245.2 NP_079521.1 Q9BYU1 PBX4_HUMAN pre-B-cell leukemia homeobox 4 345 sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|lung(4)|ovary(1)|prostate(3) 9 CTACCCTGGGCCTGAAACGAC 0.622000 13 61 1.5842e-08 1.68552e-08 1 1 0 TUBB8P7 0 broad.mit.edu 37 16 90162513 90162513 + RNA SNP T T C TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr16:90162513T>C ENST00000564451.1 + 0 1866 TUBB8P7_ENST00000567960.1_RNA p.N415N(2) GCAACATGAATGACCTGGTGT 0.537000 7 352 0 0 1 0 0 MBTPS1 8720 broad.mit.edu 37 16 84092916 84092916 + Missense_Mutation SNP G G A rs139138066 TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr16:84092916G>A ENST00000343411.3 - 21 3317 c.2822C>T c.(2821-2823)aCg>aTg p.T941M NM_003791.2 NP_003782.1 Q14703 MBTP1_HUMAN membrane-bound transcription factor peptidase, site 1 941 cholesterol metabolic process|proteolysis endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane serine-type endopeptidase activity NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 CCTGGGCGCCGTCTCGTTTAA 0.532000 5 253 0 0 1 0 0 CCDC130 81576 broad.mit.edu 37 19 13873869 13873869 + Missense_Mutation SNP C C T TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr19:13873869C>T ENST00000586600.1 + 11 1681 c.1178C>T c.(1177-1179)tCg>tTg p.S393L CCDC130_ENST00000221554.8_Missense_Mutation_p.S393L P13994 CC130_HUMAN coiled-coil domain containing 130 393 response to virus protein binding endometrium(2)|kidney(1)|large_intestine(3)|ovary(1)|skin(2)|urinary_tract(1) 10 OV - Ovarian serous cystadenocarcinoma(19;6.02e-23)|Epithelial(5;2.58e-18) TACTCCGACTCGGAGAGTGAG 0.697000 30 124 0 0 1 0 0 ZNF845 91664 broad.mit.edu 37 19 53856761 53856761 + Missense_Mutation SNP T T C TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr19:53856761T>C ENST00000458035.1 + 4 2950 c.2833T>C c.(2833-2835)Tgt>Cgt p.C945R ZNF845_ENST00000595091.1_Missense_Mutation_p.C945R NM_138374.1 NP_612383.1 Q96IR2 ZN845_HUMAN zinc finger protein 845 945 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.C945R(1) endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 26 ACCTTACAAGTGTAATGAATG 0.348000 8 177 0 0 1 0 0 THBS1 7057 broad.mit.edu 37 15 39882017 39882017 + Silent SNP C C T TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr15:39882017C>T ENST00000260356.5 + 13 2103 c.1938C>T c.(1936-1938)ccC>ccT p.P646P NM_003246.2 NP_003237.2 P07996 TSP1_HUMAN thrombospondin 1 646 EGF-like 3. activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding p.P646P(1) breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 53 all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223) GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105) Becaplermin(DB00102) TGTGCAAGCCCCGTAACCCCT 0.537000 41 81 0 0 1 0 0 MSR1 0 broad.mit.edu 37 8 15967629 15967629 + Missense_Mutation SNP G G A TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr8:15967629G>A ENST00000350896.3 - 9 1329 c.1132C>T c.(1132-1134)Cat>Tat p.H378Y MSR1_ENST00000262101.5_Missense_Mutation_p.H441Y|MSR1_ENST00000445506.2_Missense_Mutation_p.H459Y|MSR1_ENST00000355282.2_Missense_Mutation_p.H378Y NM_138715.2|NM_138716.2 NP_619729.1|NP_619730.1 P21757 MSRE_HUMAN macrophage scavenger receptor 1 441 SRCR. cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis collagen|integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|protein binding|scavenger receptor activity haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 37 Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164) TCTTCAGAATGTGAACAGGCT 0.373000 5 365 0 0 1 0 0 ALDH1B1 219 broad.mit.edu 37 9 38396889 38396889 + Missense_Mutation SNP G G A TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr9:38396889G>A ENST00000377698.3 + 2 1297 c.1144G>A c.(1144-1146)Gca>Aca p.A382T NM_000692.4 NP_000683.3 P30837 AL1B1_HUMAN aldehyde dehydrogenase 1 family, member B1 382 carbohydrate metabolic process mitochondrial matrix|nucleus aldehyde dehydrogenase (NAD) activity NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2) 32 GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115) NADH(DB00157) GAAGGAGGGCGCAAAACTCCT 0.567000 5 443 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152786392 152786392 + Splice_Site SNP C C T TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr6:152786392C>T ENST00000367255.5 - 18 2534 c.e18+1 SYNE1_ENST00000265368.4_Splice_Site|SYNE1_ENST00000367253.4_Splice_Site|SYNE1_ENST00000423061.1_Splice_Site|SYNE1_ENST00000448038.1_Splice_Site|SYNE1_ENST00000413186.2_Splice_Site|SYNE1_ENST00000367248.3_Splice_Site|SYNE1_ENST00000495090.2_Splice_Site|SYNE1_ENST00000341594.5_Splice_Site|SYNE1_ENST00000466159.2_Splice_Site NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) ACCAATCTTACCTTTTTGGCA 0.403000 HNSCC(10;0.0054) 220 38 0 0 1 0 0 DOCK2 1794 broad.mit.edu 37 5 169506095 169506095 + Missense_Mutation SNP G G A TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr5:169506095G>A ENST00000256935.8 + 49 5191 c.5111G>A c.(5110-5112)aGa>aAa p.R1704K DOCK2_ENST00000520908.1_Missense_Mutation_p.R1196K|DOCK2_ENST00000540750.1_Missense_Mutation_p.R765K|DOCK2_ENST00000523351.1_3'UTR NM_004946.2 NP_004937.1 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 1704 actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 160 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) AGGACAAAGAGAAGCAGCGTA 0.587000 175 115 0 0 1 0 0 GOLGA6L5 0 broad.mit.edu 37 15 85053124 85053124 + RNA SNP G G T TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr15:85053124G>T ENST00000414190.2 - 0 328 NR_003246.2 TAAATGTTTTGTTTTTTTTTT 0.353000 13 35 3.32936e-07 3.50157e-07 1 1 0 KCNA6 3742 broad.mit.edu 37 12 4919970 4919970 + Missense_Mutation SNP G G C TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr12:4919970G>C ENST00000433855.1 + 1 1629 c.763G>C c.(763-765)Ggg>Cgg p.G255R KCNA6_ENST00000280684.3_Missense_Mutation_p.G255R NM_002235.3 NP_002226.1 P17658 KCNA6_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 6 255 voltage-gated potassium channel complex voltage-gated potassium channel activity NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5) 49 CAGTACTCTTGGGGGCTCCTT 0.552000 HNSCC(72;0.22) 266 173 0 0 1 0 0 POM121L9P 0 broad.mit.edu 37 22 24659734 24659734 + RNA SNP T T C TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr22:24659734T>C ENST00000414583.2 + 0 3259 NR_003714.1 CTCTCTCCTGTGGGAGGGGGG 0.632000 6 54 0 0 1 0 0 UGT1A9 0 broad.mit.edu 37 2 234581034 234581034 + Missense_Mutation SNP A A G TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr2:234581034A>G ENST00000354728.4 + 1 536 c.454A>G c.(454-456)Aac>Gac p.N152D UGT1A8_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A10_ENST00000373445.1_Intron NM_021027.2 NP_066307.1 breast(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 37 Breast(86;0.000766)|all_lung(227;0.00269)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0331)|Lung NSC(271;0.0459)|Lung SC(224;0.128) Epithelial(121;1.26e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000436)|Lung(119;0.00347)|LUSC - Lung squamous cell carcinoma(224;0.00757) TCCTTTTGATAACTGTGGCTT 0.398000 6 472 0 0 1 0 0 NBPF15 284565 broad.mit.edu 37 1 148594434 148594434 + Missense_Mutation SNP G G A rs143361250 byFrequency TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr1:148594434G>A ENST00000442702.2 + 21 2874 c.1807G>A c.(1807-1809)Gtc>Atc p.V603I NBPF15_ENST00000369187.3_Missense_Mutation_p.V603I NM_001170755.1 NP_001164226.1 Q8N660 NBPFF_HUMAN neuroblastoma breakpoint family, member 15 603 NBPF 6. cytoplasm NS(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(2) 12 all_hematologic(923;0.032) AGAGCCTGAAGTCTTACAGGA 0.458000 14 1173 0 0 1 0 0 ARHGAP32 9743 broad.mit.edu 37 11 128844810 128844810 + Missense_Mutation SNP C C T TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr11:128844810C>T ENST00000310343.9 - 20 2239 c.2240G>A c.(2239-2241)cGc>cAc p.R747H ARHGAP32_ENST00000524655.1_Missense_Mutation_p.R673H|ARHGAP32_ENST00000392657.3_Missense_Mutation_p.R398H|ARHGAP32_ENST00000527272.1_Missense_Mutation_p.R398H NM_001142685.1 NP_001136157.1 A7KAX9 RHG32_HUMAN Rho GTPase activating protein 32 747 cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane GTPase activator activity|phosphatidylinositol binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3) 60 GGAGTTACAGCGGTTCCCCAG 0.478000 5 211 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152650992 152650992 + Missense_Mutation SNP G G A TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr6:152650992G>A ENST00000367255.5 - 78 15429 c.14828C>T c.(14827-14829)gCg>gTg p.A4943V SYNE1_ENST00000265368.4_Missense_Mutation_p.A4943V|SYNE1_ENST00000423061.1_Missense_Mutation_p.A4872V|SYNE1_ENST00000448038.1_Missense_Mutation_p.A4872V|SYNE1_ENST00000341594.5_Missense_Mutation_p.A4690V NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 4943 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) GTGACTCAGCGCATTCATGAT 0.488000 HNSCC(10;0.0054) 7 870 0 0 1 0 0 KRTAP5-10 387273 broad.mit.edu 37 11 71276945 71276945 + Silent SNP T T C TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr11:71276945T>C ENST00000398531.1 + 1 337 c.312T>C c.(310-312)tgT>tgC p.C104C KRTAP5-10_ENST00000376536.4_Intron NM_001012710.1 NP_001012728.1 Q6L8G5 KR510_HUMAN keratin associated protein 5-10 104 7 X 4 AA repeats of C-C-X-P. keratin filament endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 12 AGGGGGGCTGTGGTTCTTGTG 0.677000 5 236 0 0 1 0 0 TUBB8P7 0 broad.mit.edu 37 16 90162172 90162172 + RNA SNP T T C TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr16:90162172T>C ENST00000564451.1 + 0 1525 TUBB8P7_ENST00000567960.1_RNA GATGGCTGCCTGTGACCCCCG 0.567000 12 270 0 0 1 0 0 CYP2C8 1558 broad.mit.edu 37 10 96805579 96805579 + Missense_Mutation SNP G G A TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr10:96805579G>A ENST00000371270.3 - 6 1043 c.949C>T c.(949-951)Cca>Tca p.P317S CYP2C8_ENST00000535898.1_Missense_Mutation_p.P215S|CYP2C8_ENST00000539050.1_Missense_Mutation_p.P231S NM_000770.3|NM_001198853.1|NM_001198855.1 NP_000761.3|NP_001185782.1|NP_001185784.1 P10632 CP2C8_HUMAN cytochrome P450, family 2, subfamily C, polypeptide 8 317 exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3) 21 Colorectal(252;0.0397) all cancers(201;6.21e-05) Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198) GTGACCTCTGGGTGCTTCAGC 0.458000 130 241 0 0 1 0 0 RANBP9 10048 broad.mit.edu 37 6 13711709 13711709 + Missense_Mutation SNP G G T TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr6:13711709G>T ENST00000011619.3 - 1 87 c.29C>A c.(28-30)cCg>cAg p.P10Q NM_005493.2 NP_005484.2 Q96S59 RANB9_HUMAN RAN binding protein 9 10 Poly-Pro. axon guidance|microtubule nucleation|protein complex assembly cytosol|microtubule associated complex|nucleus Ran GTPase binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1) 16 Breast(50;0.00669)|Ovarian(93;0.0634) all_hematologic(90;0.117) Epithelial(50;0.223) ctgctgctgcggcggcggcgg 0.761000 3 35 0.00024832 0.000255295 1 1 0 ZNF709 163051 broad.mit.edu 37 19 12575498 12575498 + Missense_Mutation SNP G G A TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr19:12575498G>A ENST00000397732.3 - 4 1409 c.1238C>T c.(1237-1239)aCt>aTt p.T413I CTD-3105H18.18_ENST00000598753.1_Intron|ZNF709_ENST00000428311.1_Missense_Mutation_p.T413I 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 11 1003 0 0 1 0 0 FRG1 2483 broad.mit.edu 37 4 190883052 190883052 + Silent SNP G G A TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr4:190883052G>A ENST00000226798.4 + 8 927 c.705G>A c.(703-705)cgG>cgA p.R235R NM_004477.2 NP_004468.1 Q14331 FRG1_HUMAN FSHD region gene 1 235 rRNA processing Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1) 32 all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147) all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161) AAAAGGCTCGGAAAGATGGAT 0.328000 9 1346 0 0 1 0 0 HIST1H2BJ 8970 broad.mit.edu 37 6 27100369 27100369 + Missense_Mutation SNP C C T TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr6:27100369C>T ENST00000607124.1 - 1 160 c.161G>A c.(160-162)gGc>gAc p.G54D HIST1H2BJ_ENST00000339812.2_Missense_Mutation_p.G54D|HIST1H2BJ_ENST00000541790.1_Missense_Mutation_p.G54D P06899 H2B1J_HUMAN histone cluster 1, H2bj 54 defense response to bacterium|nucleosome assembly nucleosome|nucleus DNA binding p.G54D(2) breast(1)|kidney(2)|lung(5)|ovary(1)|prostate(1) 10 GGACGAAATGCCGGTGTCAGG 0.547000 9 733 0 0 1 0 0 DISP1 84976 broad.mit.edu 37 1 223176649 223176649 + Missense_Mutation SNP C C T rs148231227 by1000genomes TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr1:223176649C>T ENST00000284476.6 + 8 2074 c.1910C>T c.(1909-1911)gCg>gTg p.A637V NM_032890.3 NP_116279.2 Q96F81 DISP1_HUMAN dispatched homolog 1 (Drosophila) 637 SSD. diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway basolateral plasma membrane|integral to membrane hedgehog receptor activity|peptide transporter activity p.A637V(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5) 69 GBM - Glioblastoma multiforme(131;0.102) GGGGTTTATGCGGGGACAGCT 0.448000 5 537 0 0 1 0 0 HTR3D 200909 broad.mit.edu 37 3 183756704 183756704 + Missense_Mutation SNP C C T TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr3:183756704C>T ENST00000382489.3 + 8 1306 c.1306C>T c.(1306-1308)Ctc>Ttc p.L436F HTR3D_ENST00000428798.2_Missense_Mutation_p.L386F|HTR3D_ENST00000453435.1_Missense_Mutation_p.L215F|HTR3D_ENST00000334128.2_Missense_Mutation_p.L261F NM_001163646.1 NP_001157118.1 Q70Z44 5HT3D_HUMAN 5-hydroxytryptamine (serotonin) receptor 3D, ionotropic 436 integral to membrane|plasma membrane extracellular ligand-gated ion channel activity|receptor activity large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2) 10 all_cancers(143;2.33e-10)|Ovarian(172;0.0303) Epithelial(37;6.23e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) GCTCTTCCGCCTCTACCTGCT 0.582000 295 57 0 0 1 0 0 RASGEF1B 153020 broad.mit.edu 37 4 82377910 82377910 + Silent SNP A A G TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr4:82377910A>G ENST00000436139.2 - 4 459 c.333T>C c.(331-333)ctT>ctC p.L111L RASGEF1B_ENST00000509081.1_Silent_p.L111L|RASGEF1B_ENST00000514889.1_5'UTR|RASGEF1B_ENST00000264400.2_Silent_p.L111L|RASGEF1B_ENST00000335927.7_Silent_p.L70L Q0VAM2 RGF1B_HUMAN RasGEF domain family, member 1B 111 N-terminal Ras-GEF. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular Ras guanyl-nucleotide exchange factor activity endometrium(2)|kidney(5)|large_intestine(4)|lung(13)|prostate(1)|skin(1) 26 TGAGGAGTTGAAGGATTTTGG 0.388000 5 452 0 0 1 0 0 SUZ12 23512 broad.mit.edu 37 17 30267331 30267331 + Nonsense_Mutation SNP C C T TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr17:30267331C>T ENST00000322652.5 + 2 530 c.301C>T c.(301-303)Cga>Tga p.R101* SUZ12_ENST00000580398.1_Nonsense_Mutation_p.R101* NM_015355.2 NP_056170.2 Q15022 SUZ12_HUMAN SUZ12 polycomb repressive complex 2 subunit 101 negative regulation of cell differentiation|transcription, DNA-dependent ESC/E(Z) complex histone methyltransferase activity|methylated histone residue binding|zinc ion binding p.R101*(1) SSH2/SUZ12(2)|JAZF1/SUZ12(133) breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(5)|skin(1) 21 Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.041)|Ovarian(249;0.182)|Breast(31;0.231) TAGATTTCTTCGAACTCGGAA 0.308000 T JAZF1 endometrial stromal tumours 6 783 0 0 1 0 0 ZNF429 353088 broad.mit.edu 37 19 21720414 21720414 + Missense_Mutation SNP T T G TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr19:21720414T>G ENST00000358491.4 + 4 1767 c.1559T>G c.(1558-1560)cTg>cGg p.L520R ZNF429_ENST00000597078.1_Intron NM_001001415.2 NP_001001415.2 Q86V71 ZN429_HUMAN zinc finger protein 429 520 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2) 34 GCTTTTATCCTGTCCTCAAGA 0.378000 8 562 0 0 1 0 0 SUN1 23353 broad.mit.edu 37 7 897583 897583 + Missense_Mutation SNP G G A TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr7:897583G>A ENST00000456758.2 + 19 2080 c.2080G>A c.(2080-2082)Gta>Ata p.V694I SUN1_ENST00000425407.2_Missense_Mutation_p.V422I|SUN1_ENST00000401592.1_Missense_Mutation_p.V505I|SUN1_ENST00000389574.3_Missense_Mutation_p.V422I|SUN1_ENST00000452783.2_Missense_Mutation_p.V402I|SUN1_ENST00000405266.1_Missense_Mutation_p.V542I|SUN1_ENST00000413514.2_Missense_Mutation_p.V303I O94901 SUN1_HUMAN Sad1 and UNC84 domain containing 1 532 SUN. cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane integral to membrane|nuclear inner membrane|SUN-KASH complex protein binding NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 AGTGGATGCCGTACAAGAAAG 0.438000 8 876 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29625934 29625934 + Missense_Mutation SNP C C T TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr20:29625934C>T ENST00000278882.3 + 5 558 c.178C>T c.(178-180)Cat>Tat p.H60Y FRG1B_ENST00000358464.4_Missense_Mutation_p.H60Y|FRG1B_ENST00000439954.2_Missense_Mutation_p.H65Y endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ACTTGTTGGGCATTCAGATGC 0.338000 14 597 0 0 1 0 0 RP11-114H24.7 0 broad.mit.edu 37 15 78211548 78211548 + RNA SNP T T C TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr15:78211548T>C ENST00000565869.1 + 0 111 RP11-114H24.2_ENST00000567226.1_RNA CCACCTGGGATTGGAGCTTTC 0.562000 7 431 0 0 1 0 0 ZNF366 0 broad.mit.edu 37 5 71752377 71752377 + Missense_Mutation SNP G G T TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr5:71752377G>T ENST00000318442.5 - 3 1868 c.1378C>A c.(1378-1380)Ctg>Atg p.L460M NM_152625.1 NP_689838.1 Q8N895 ZN366_HUMAN zinc finger protein 366 460 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 35 Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155) OV - Ovarian serous cystadenocarcinoma(47;2.51e-53) TTGGCCAGCAGGGTGAACTCC 0.532000 7 726 0.00198382 0.00201688 1 1 0 CYP4F24P 0 broad.mit.edu 37 19 15882884 15882884 + RNA SNP C C T rs3752144 by1000genomes TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr19:15882884C>T ENST00000587443.2 - 0 793 NR_033864.1 TGCATTTCTGCAGACTGTCCA 0.537000 8 683 0 0 1 0 0 IGHV3-43 0 broad.mit.edu 37 14 106926420 106926420 + RNA SNP C C A TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr14:106926420C>A ENST00000434710.1 - 0 201 AGAGGCTGCACAGGAGAGTCT 0.567000 380 512 4.6437e-136 5.34464e-136 1 1 0 METTL17 64745 broad.mit.edu 37 14 21464862 21464862 + Silent SNP G G A TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr14:21464862G>A ENST00000339374.6 + 13 1490 c.1257G>A c.(1255-1257)cgG>cgA p.R419R METTL17_ENST00000556670.2_Silent_p.R419R|METTL17_ENST00000382985.4_Silent_p.R419R|RP11-84C10.4_ENST00000557335.1_RNA NM_001029991.1|NM_022734.2 NP_001025162.1|NP_073571.1 Q9H7H0 MET17_HUMAN methyltransferase like 17 419 translation mitochondrion|ribosome copper ion binding|methyltransferase activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(2) 20 CAGCCCGCCGGCACGGCAGGT 0.582000 5 577 0 0 1 0 0 LINC00264 0 broad.mit.edu 37 10 26880338 26880338 + RNA SNP G G C rs3118888 by1000genomes TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr10:26880338G>C ENST00000412114.1 + 0 573 NR_026793.1 GCTGAAACATGGAAGGTAAAA 0.483000 6 118 0 0 1 0 0 GOLGA6A 342096 broad.mit.edu 37 15 74368296 74368296 + Missense_Mutation SNP G G A TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr15:74368296G>A ENST00000290438.3 - 8 635 c.595C>T c.(595-597)Cgg>Tgg p.R199W NM_001038640.2 NP_001033729.2 Q9NYA3 GOG6A_HUMAN golgin A6 family, member A 199 endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|liver(1)|lung(6)|prostate(1)|urinary_tract(1) 16 TGTAACCACCGCTGGAGGACC 0.572000 9 1037 0 0 1 0 0 CHD6 0 broad.mit.edu 37 20 40049225 40049225 + Missense_Mutation SNP C C T TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr20:40049225C>T ENST00000373233.3 - 31 6227 c.6050G>A c.(6049-6051)gGa>gAa p.G2017E NM_032221.3 NP_115597.3 Q8TD26 CHD6_HUMAN chromodomain helicase DNA binding protein 6 2017 chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9) 129 Myeloproliferative disorder(115;0.00425) GAGCTCACTTCCTTCAAGAGG 0.403000 91 339 0 0 1 0 0 PRAMEF11 440560 broad.mit.edu 37 1 12888459 12888459 + Missense_Mutation SNP C C T TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr1:12888459C>T ENST00000535591.1 - 2 260 c.65G>A c.(64-66)cGc>cAc p.R22H NM_001146344.1 NP_001139816.1 O60813 PRA11_HUMAN PRAME family member 11 22 NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1) 27 AGGGAGGCGGCGGAAGGGCCA 0.612000 5 245 0 0 1 0 0 ERBB2IP 55914 broad.mit.edu 37 5 65350232 65350232 + Missense_Mutation SNP A A G TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr5:65350232A>G ENST00000284037.5 + 21 3475 c.3086A>G c.(3085-3087)aAt>aGt p.N1029S ERBB2IP_ENST00000508515.1_Missense_Mutation_p.N1029S|ERBB2IP_ENST00000380936.1_Missense_Mutation_p.N1029S|ERBB2IP_ENST00000416865.2_Intron|ERBB2IP_ENST00000380935.1_Missense_Mutation_p.N1029S|ERBB2IP_ENST00000380938.2_Missense_Mutation_p.N1029S|ERBB2IP_ENST00000506030.1_Missense_Mutation_p.N1029S|ERBB2IP_ENST00000511297.1_Missense_Mutation_p.N1025S|ERBB2IP_ENST00000380939.2_Missense_Mutation_p.N1029S|ERBB2IP_ENST00000380943.2_Missense_Mutation_p.N1029S NM_001253697.1 NP_001240626.1 Q96RT1 LAP2_HUMAN erbb2 interacting protein 1029 basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization basement membrane|cytoplasm|hemidesmosome|nucleus ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2) 36 Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234) UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191) GCCAATATGAATTTCTCTAAT 0.418000 94 222 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414343 20414343 + Silent SNP A A G TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr9:20414343A>G ENST00000380338.4 - 5 787 c.501T>C c.(499-501)agT>agC p.S167S MLLT3_ENST00000429426.2_Silent_p.S164S|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 167 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S167S(19) 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) tgctgctgctactgctgctgc 0.532000 T MLL ALL 8 167 0 0 1 0 0 ANKRD36C 400986 broad.mit.edu 37 2 96594840 96594840 + Missense_Mutation SNP T T C rs76434426 by1000genomes TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr2:96594840T>C ENST00000456556.1 - 26 1901 c.1817A>G c.(1816-1818)gAg>gGg p.E606G ankyrin repeat domain 36C breast(1)|endometrium(8)|kidney(5)|lung(4) 18 TATTGGTCCCTCCTTTATTTC 0.363000 6 175 0 0 1 0 0 KRTAP1-5 83895 broad.mit.edu 37 17 39183145 39183145 + Missense_Mutation SNP A A G TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr17:39183145A>G ENST00000361883.5 - 1 309 c.263T>C c.(262-264)aTc>aCc p.I88T NM_031957.1 NP_114163.1 Q9BYS1 KRA15_HUMAN keratin associated protein 1-5 88 15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP]. keratin filament p.I88T(11) central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 17 Breast(137;0.00043) STAD - Stomach adenocarcinoma(17;0.000371) GCAGGAGCTGATCTGGCAGCA 0.632000 19 280 0 0 1 0 0 DTNB 1838 broad.mit.edu 37 2 25656844 25656844 + Silent SNP C C T TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr2:25656844C>T ENST00000406818.3 - 13 1527 c.1278G>A c.(1276-1278)ttG>ttA p.L426L DTNB_ENST00000407038.3_Silent_p.L396L|DTNB_ENST00000407186.1_Silent_p.L396L|DTNB_ENST00000545439.1_Silent_p.L222L|DTNB_ENST00000496972.2_Silent_p.L369L|DTNB_ENST00000405222.1_Silent_p.L396L|DTNB_ENST00000407661.3_Silent_p.L426L|DTNB_ENST00000404103.3_Silent_p.L426L|DTNB_ENST00000288642.8_Silent_p.L426L NM_001256303.1|NM_021907.4 NP_001243232.1|NP_068707.1 O60941 DTNB_HUMAN dystrobrevin, beta 426 Syntrophin-binding region. cytoplasm calcium ion binding|zinc ion binding p.L426F(1) endometrium(1)|large_intestine(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1) 11 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AGTTAAAGCTCAAGTCAGTGG 0.408000 10 369 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414398 20414398 + Missense_Mutation SNP C C G TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr9:20414398C>G ENST00000380338.4 - 5 732 c.446G>C c.(445-447)aGc>aCc p.S149T MLLT3_ENST00000429426.2_Missense_Mutation_p.S146T|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 149 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding 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) gctgctgctgctgGTATGAAT 0.493000 T MLL ALL 5 191 0 0 1 0 0 PCDHGA7 0 broad.mit.edu 37 5 140762765 140762765 + Missense_Mutation SNP C C T TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr5:140762765C>T ENST00000518325.1 + 1 299 c.299C>T c.(298-300)gCg>gTg p.A100V PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron NM_018920.2 NP_061743.1 NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1) 49 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCTCAGAGTGCGCGGTGTCTG 0.483000 5 440 0 0 1 0 0 ZNF85 7639 broad.mit.edu 37 19 21132761 21132761 + Missense_Mutation SNP C C A TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr19:21132761C>A ENST00000601023.1 + 2 1910 c.1264C>A c.(1264-1266)Cct>Act p.P422T ZNF85_ENST00000345030.6_Missense_Mutation_p.P448T|ZNF85_ENST00000328178.8_Missense_Mutation_p.P481T Q03923 ZNF85_HUMAN zinc finger protein 85 481 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2) 20 AGAAGAGAAACCTTACAAATG 0.358000 106 143 4.98428e-49 5.49472e-49 1 1 0 ZNF737 100129842 broad.mit.edu 37 19 20728170 20728170 + Missense_Mutation SNP G G C TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr19:20728170G>C ENST00000427401.4 - 4 933 c.839C>G c.(838-840)aCt>aGt p.T280S NM_001159293.1 NP_001152765.1 C9JHM3 C9JHM3_HUMAN zinc finger protein 737 280 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1) 13 TTTCTCTCCAGTATGAATTAT 0.413000 5 440 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145293269 145293269 + Splice_Site SNP G G A rs61350760 by1000genomes TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr1:145293269G>A ENST00000369338.1 + 1 155 c.e1+1 NBPF10_ENST00000369339.2_Intron|RP11-458D21.5_ENST00000468030.1_Splice_Site A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 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) TTTCACAACAGTAAGTTAAGA 0.423000 14 224 0 0 1 0 0 KMT2D 8085 broad.mit.edu 37 12 49427983 49427983 + Missense_Mutation SNP C C T TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr12:49427983C>T ENST00000301067.7 - 38 10606 c.10607G>A c.(10606-10608)cGc>cAc p.R3536H NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D CCGGGACTTGCGGTGTACACC 0.557000 7 953 0 0 1 0 0 GPR180 160897 broad.mit.edu 37 13 95264579 95264579 + Missense_Mutation SNP A A G TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr13:95264579A>G ENST00000376958.4 + 3 465 c.440A>G c.(439-441)gAa>gGa p.E147G NM_180989.5 NP_851320.1 Q86V85 GP180_HUMAN G protein-coupled receptor 180 147 integral to membrane breast(1)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1) 10 all_neural(89;0.0684)|Medulloblastoma(90;0.163) ATCCCATTTGAAATGGTGTTA 0.393000 11 550 0 0 1 0 0 TUBB8P7 0 broad.mit.edu 37 16 90161902 90161902 + RNA SNP A A G rs6500471 by1000genomes TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr16:90161902A>G ENST00000564451.1 + 0 1255 TUBB8P7_ENST00000567960.1_RNA p.K213R(8) ATATGTTCCAAGACCCTAAAA 0.537000 17 15 0 0 1 0 0 GOLGA3 2802 broad.mit.edu 37 12 133353241 133353241 + Silent SNP T T C TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr12:133353241T>C ENST00000204726.3 - 21 4515 c.3957A>G c.(3955-3957)gaA>gaG p.E1319E GOLGA3_ENST00000450791.2_Silent_p.E1319E|GOLGA3_ENST00000456883.2_Silent_p.E1319E NM_005895.3 NP_005886.2 Q08378 GOGA3_HUMAN golgin A3 1319 Gln-rich. intra-Golgi vesicle-mediated transport Golgi cisterna membrane|Golgi transport complex protein binding|transporter activity breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0176)|Lung NSC(355;0.204) OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06) GCTGTAGCCCTTCCAGTTCCT 0.587000 6 545 0 0 1 0 0 MOCS1 4337 broad.mit.edu 37 6 39876859 39876859 + Silent SNP C C T TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr6:39876859C>T ENST00000373186.4 - 9 1259 c.1122G>A c.(1120-1122)caG>caA p.Q374Q MOCS1_ENST00000373188.2_Silent_p.Q374Q|MOCS1_ENST00000373175.4_Silent_p.Q345Q|MOCS1_ENST00000373195.3_Intron|MOCS1_ENST00000432280.2_Silent_p.Q345Q|MOCS1_ENST00000308559.7_Intron|MOCS1_ENST00000425303.2_Silent_p.Q374Q|MOCS1_ENST00000340692.5_Silent_p.Q374Q NM_005943.5 NP_005934.2 Q9NZB8 MOCS1_HUMAN molybdenum cofactor synthesis 1 374 Molybdenum cofactor biosynthesis protein A. Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cytosol|molybdopterin synthase complex|nucleus 4 iron, 4 sulfur cluster binding|catalytic activity|GTP binding|metal ion binding central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 21 Ovarian(28;0.0355)|Colorectal(47;0.196) GGTTCTTCATCTGGGAAATAC 0.592000 64 109 0 0 1 0 0 ZNF347 84671 broad.mit.edu 37 19 53644386 53644386 + Silent SNP T T A TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr19:53644386T>A ENST00000452676.2 - 5 2124 c.1698A>T c.(1696-1698)ggA>ggT p.G566G ZNF347_ENST00000601469.2_Silent_p.G566G|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000334197.7_Silent_p.G565G NM_001172674.1 NP_001166145.1 Q96SE7 ZN347_HUMAN zinc finger protein 347 565 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1) 23 GBM - Glioblastoma multiforme(134;0.0179) AAGGTTTTTCTCCAGTATGGA 0.408000 9 1042 0 0 1 0 0 RP11-423O2.5 0 broad.mit.edu 37 1 142803621 142803621 + RNA SNP T T C TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr1:142803621T>C ENST00000423385.1 - 0 1344 TGGAAGAaactaatatctgtt 0.303000 7 228 0 0 1 0 0 ZNF57 126295 broad.mit.edu 37 19 2917842 2917842 + Missense_Mutation SNP G G A rs149690257 byFrequency TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr19:2917842G>A ENST00000306908.5 + 4 1371 c.1223G>A c.(1222-1224)cGa>cAa p.R408Q ZNF57_ENST00000523428.1_Missense_Mutation_p.R376Q|AC006277.2_ENST00000520090.2_RNA NM_173480.2 NP_775751.1 Q68EA5 ZNF57_HUMAN zinc finger protein 57 408 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|GBM - Glioblastoma multiforme(1328;0.00161)|STAD - Stomach adenocarcinoma(1328;0.18) AGATCATTCCGAGGTCATTTG 0.428000 6 756 0 0 1 0 0 GOLGA3 2802 broad.mit.edu 37 12 133353221 133353221 + Splice_Site SNP T T C TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr12:133353221T>C ENST00000204726.3 - 21 4535 c.3978_splice c.e21+1 p.Q1326_splice GOLGA3_ENST00000450791.2_Splice_Site_p.Q1326_splice|GOLGA3_ENST00000456883.2_Splice_Site_p.Q1326_splice NM_005895.3 NP_005886.2 Q08378 GOGA3_HUMAN golgin A3 1326 Gln-rich. intra-Golgi vesicle-mediated transport Golgi cisterna membrane|Golgi transport complex protein binding|transporter activity breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0176)|Lung NSC(355;0.204) OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06) CACAGGTACCTGCAGCAGCTG 0.607000 7 462 0 0 1 0 0 C19orf60 55049 broad.mit.edu 37 19 18702974 18702974 + Missense_Mutation SNP C C T TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr19:18702974C>T ENST00000358607.6 + 5 667 c.590C>T c.(589-591)gCg>gTg p.A197V C19orf60_ENST00000450195.2_Missense_Mutation_p.A175V|CRLF1_ENST00000594325.1_Intron NM_001100418.1|NM_001100419.1 NP_001093888.1|NP_001093889.1 Q96EN9 CS060_HUMAN chromosome 19 open reading frame 60 197 protein binding AGGTTTGATGCGGAATCTGCC 0.587000 5 329 0 0 1 0 0 SPDYE3 441272 broad.mit.edu 37 7 99912180 99912180 + Silent SNP G G A rs858635 TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr7:99912180G>A ENST00000332397.6 + 6 1192 c.1008G>A c.(1006-1008)ccG>ccA p.P336P SPDYE3_ENST00000437326.2_5'UTR NM_001004351.4 NP_001004351.3 A6NKU9 SPDE3_HUMAN speedy/RINGO cell cycle regulator family member E3 336 p.P336P(10) endometrium(10)|kidney(1)|lung(8)|urinary_tract(1) 20 CCAGCCCCCCGCGTAGGTCCC 0.577000 6 352 0 0 1 0 0 PPP4C 5531 broad.mit.edu 37 16 30096070 30096070 + Missense_Mutation SNP G G T TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr16:30096070G>T ENST00000279387.7 + 8 856 c.688G>T c.(688-690)Gac>Tac p.D230Y PPP4C_ENST00000561610.1_Missense_Mutation_p.D230Y NM_002720.1 NP_002711.1 P60510 PP4C_HUMAN protein phosphatase 4, catalytic subunit 230 microtubule cytoskeleton organization|regulation of double-strand break repair via homologous recombination centrosome|nucleus metal ion binding|NF-kappaB-inducing kinase activity|protein binding|protein serine/threonine phosphatase activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|lung(2)|pancreas(1)|skin(1)|urinary_tract(1) 9 CGCAGCCAATGACATTGACAT 0.582000 9 526 0.00829132 0.00838293 1 1 0 FAM86DP 0 broad.mit.edu 37 3 75475607 75475607 + RNA SNP C C T TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr3:75475607C>T ENST00000459803.1 - 0 922 NR_024241.1 TCACCTAGCTCGGTGGTGAAC 0.652000 3 32 0 0 1 0 0 SMARCAL1 50485 broad.mit.edu 37 2 217340008 217340008 + Missense_Mutation SNP G G A TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr2:217340008G>A ENST00000357276.4 + 15 2591 c.2261G>A c.(2260-2262)cGc>cAc p.R754H SMARCAL1_ENST00000358207.5_Missense_Mutation_p.R754H NM_014140.3 NP_054859.2 Q9NZC9 SMAL1_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 754 Helicase C-terminal. chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter nucleus ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1) 42 Renal(323;0.0458) Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111) CAGCACATCCGCATCGATGGC 0.632000 Schimke Immuno-Osseous Dysplasia 87 177 0 0 1 0 0 COASY 80347 broad.mit.edu 37 17 40714771 40714771 + Missense_Mutation SNP G G A TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr17:40714771G>A ENST00000393818.2 + 1 587 c.131G>A c.(130-132)gGc>gAc p.G44D COASY_ENST00000590958.1_Missense_Mutation_p.G73D|COASY_ENST00000421097.2_Missense_Mutation_p.G44D|COASY_ENST00000420359.1_Missense_Mutation_p.G44D|COASY_ENST00000449624.1_Intron NM_025233.6 NP_079509.5 Q13057 COASY_HUMAN CoA synthase 44 coenzyme A biosynthetic process|pantothenate metabolic process mitochondrial outer membrane ATP binding|dephospho-CoA kinase activity|pantetheine-phosphate adenylyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(1) 21 all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344) BRCA - Breast invasive adenocarcinoma(366;0.13) CTGCAGCCGGGCATGAGCCTG 0.662000 7 599 0 0 1 0 0 ZNF714 148206 broad.mit.edu 37 19 21281113 21281113 + Missense_Mutation SNP C C G TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr19:21281113C>G ENST00000596143.1 + 3 364 c.39C>G c.(37-39)ttC>ttG p.F13L ZNF714_ENST00000601416.1_Missense_Mutation_p.F13L|ZNF714_ENST00000596053.1_Missense_Mutation_p.F13L|ZNF714_ENST00000291770.7_Missense_Mutation_p.F13L NM_182515.3 NP_872321.2 Q96N38 ZN714_HUMAN zinc finger protein 714 13 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(3)|lung(11)|urinary_tract(2) 18 ACCTGGTCTTCTTGGGTGAGA 0.338000 90 516 0 0 1 0 0 PAPL 0 broad.mit.edu 37 19 39597715 39597715 + Silent SNP G G A rs151134063 TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr19:39597715G>A ENST00000331256.5 + 12 1516 c.1242G>A c.(1240-1242)tcG>tcA p.S414S PAPL_ENST00000594229.1_Intron NM_001004318.2 NP_001004318.2 Q6ZNF0 PAPL_HUMAN 414 extracellular region acid phosphatase activity|metal ion binding AGCAGGTGTCGGACGACCAGG 0.622000 74 178 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414340 20414340 + Silent SNP G G A TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr9:20414340G>A ENST00000380338.4 - 5 790 c.504C>T c.(502-504)agC>agT p.S168S MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR 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 6 165 0 0 1 0 0 ANKS6 203286 broad.mit.edu 37 9 101518807 101518807 + Missense_Mutation SNP G G A TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr9:101518807G>A ENST00000353234.4 - 12 2268 c.2221C>T c.(2221-2223)Ccc>Tcc p.P741S ANKS6_ENST00000540940.1_Missense_Mutation_p.P546S|ANKS6_ENST00000375018.1_Missense_Mutation_p.P742S|ANKS6_ENST00000375019.2_Missense_Mutation_p.P440S Q68DC2 ANKS6_HUMAN ankyrin repeat and sterile alpha motif domain containing 6 741 Ser-rich. endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 21 Acute lymphoblastic leukemia(62;0.0527) TTGGGTGAGGGGGAGGGCGTG 0.562000 5 381 0 0 1 0 0 RP11-114H24.7 0 broad.mit.edu 37 15 78211517 78211517 + RNA SNP C C G TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr15:78211517C>G ENST00000565869.1 + 0 111 RP11-114H24.2_ENST00000567226.1_RNA TTGCTCAGGACACTCAAGGCC 0.557000 5 480 0 0 1 0 0 RASA1 5921 broad.mit.edu 37 5 86674214 86674214 + Splice_Site SNP T T C TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr5:86674214T>C ENST00000456692.2 + 18 1930 c.1813_splice c.e18-1 p.D605_splice RASA1_ENST00000274376.6_Splice_Site_p.D782_splice|RASA1_ENST00000506290.1_Splice_Site_p.D616_splice|RASA1_ENST00000512763.1_Splice_Site_p.D615_splice NM_022650.2 NP_072179.1 P20936 RASA1_HUMAN RAS p21 protein activator (GTPase activating protein) 1 782 C2. cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis cytosol|intrinsic to internal side of plasma membrane glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 48 all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423) OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31) TTTGTGTAGATGAAGCCACTA 0.373000 200 144 0 0 1 0 0 HMGCR 3156 broad.mit.edu 37 5 74652258 74652258 + Missense_Mutation SNP G G T TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr5:74652258G>T ENST00000287936.4 + 15 2127 c.1971G>T c.(1969-1971)atG>atT p.M657I HMGCR_ENST00000511206.1_Missense_Mutation_p.M657I|HMGCR_ENST00000343975.5_Missense_Mutation_p.M604I NM_000859.2 NP_000850.1 P04035 HMDH_HUMAN 3-hydroxy-3-methylglutaryl-CoA reductase 657 Catalytic. cholesterol biosynthetic process|coenzyme A metabolic process|germ cell migration|gonad development|isoprenoid biosynthetic process endoplasmic reticulum membrane|integral to membrane|peroxisomal membrane hydroxymethylglutaryl-CoA reductase (NADPH) activity|NADP binding breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1) 20 all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174) OV - Ovarian serous cystadenocarcinoma(47;2.24e-54) Atorvastatin(DB01076)|Bezafibrate(DB01393)|Cerivastatin(DB00439)|Fluvastatin(DB01095)|Lovastatin(DB00227)|NADH(DB00157)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641) CCATGGGGATGAACATGATTT 0.358000 128 287 4.74804e-72 5.33062e-72 1 1 0 VCAN 1462 broad.mit.edu 37 5 82815406 82815406 + Silent SNP T T C rs144399722 byFrequency TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr5:82815406T>C ENST00000265077.3 + 7 1846 c.1281T>C c.(1279-1281)acT>acC p.T427T VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Silent_p.T379T|VCAN_ENST00000342785.4_Silent_p.T427T|VCAN_ENST00000343200.5_Intron NM_004385.4 NP_004376.2 P13611 CSPG2_HUMAN versican 427 GAG-alpha (glucosaminoglycan attachment domain). cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 190 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) CCACACCTACTGGCAGTACCA 0.463000 99 263 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628245 29628245 + Missense_Mutation SNP G G A TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr20:29628245G>A ENST00000278882.3 + 6 627 c.247G>A c.(247-249)Gcc>Acc p.A83T FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T p.A83T(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGCTTTGTTGGCCTCAAATAG 0.353000 15 802 0 0 1 0 0 PAPOLB 56903 broad.mit.edu 37 7 4900316 4900316 + Missense_Mutation SNP T T A TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr7:4900316T>A ENST00000404991.1 - 1 1309 c.1123A>T c.(1123-1125)Att>Ttt p.I375F RADIL_ENST00000399583.3_Intron|RADIL_ENST00000536091.1_Intron NM_020144.4 NP_064529.4 Q9NRJ5 PAPOB_HUMAN poly(A) polymerase beta (testis specific) 375 mRNA processing|RNA polyadenylation|transcription, DNA-dependent nucleus ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 14 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14) AGAAGTACAATATAATGCTTG 0.423000 8 851 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29625956 29625956 + Missense_Mutation SNP G G A rs147809085 TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr20:29625956G>A ENST00000278882.3 + 5 580 c.200G>A c.(199-201)aGa>aAa p.R67K FRG1B_ENST00000358464.4_Missense_Mutation_p.R67K|FRG1B_ENST00000439954.2_Missense_Mutation_p.R72K p.R67K(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATTGGACCAAGAGAACAATGG 0.338000 8 634 0 0 1 0 0 MYO5A 4644 broad.mit.edu 37 15 52643597 52643597 + Missense_Mutation SNP G G A TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr15:52643597G>A ENST00000399231.3 - 28 3946 c.3703C>T c.(3703-3705)Cca>Tca p.P1235S MYO5A_ENST00000553916.1_Missense_Mutation_p.P1235S|MYO5A_ENST00000399233.2_Missense_Mutation_p.P1235S|MYO5A_ENST00000356338.6_Missense_Mutation_p.P1235S|MYO5A_ENST00000358212.6_Missense_Mutation_p.P1235S NM_000259.3 NP_000250.3 Q9Y4I1 MYO5A_HUMAN myosin VA (heavy chain 12, myoxin) 1235 actin filament-based movement|transport cytoplasm|growth cone|myosin complex|ruffle actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1) 57 all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196) GTCACCTCTGGGGCACTTTTC 0.507000 142 283 0 0 1 0 0 RILPL1 353116 broad.mit.edu 37 12 123983260 123983260 + Missense_Mutation SNP C C T TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr12:123983260C>T ENST00000376874.4 - 4 867 c.632G>A c.(631-633)cGg>cAg p.R211Q RILPL1_ENST00000340724.6_Missense_Mutation_p.R59Q NM_178314.3 NP_847884.2 Q5EBL4 RIPL1_HUMAN Rab interacting lysosomal protein-like 1 211 neuroprotection cytosol endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 7 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.00067)|all cancers(50;0.00836)|BRCA - Breast invasive adenocarcinoma(302;0.197) CACCGTGACCCGGTGCCGAAG 0.602000 71 747 0 0 1 0 0 SYNE2 23224 broad.mit.edu 37 14 64519024 64519024 + Missense_Mutation SNP C C T TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr14:64519024C>T ENST00000358025.3 + 48 8623 c.8393C>T c.(8392-8394)aCc>aTc p.T2798I SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_Missense_Mutation_p.T2798I|SYNE2_ENST00000554584.1_Missense_Mutation_p.T2831I NM_182914.2 NP_878918.2 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 2798 centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) AGCCTTACAACCTATGAGGGC 0.398000 257 301 0 0 1 0 0 ZNF273 10793 broad.mit.edu 37 7 64388822 64388822 + Silent SNP A A G TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr7:64388822A>G ENST00000476120.1 + 4 1187 c.1116A>G c.(1114-1116)aaA>aaG p.K372K ZNF273_ENST00000527278.1_3'UTR|ZNF273_ENST00000319636.5_Silent_p.K307K NM_021148.2 NP_066971.2 Q14593 ZN273_HUMAN zinc finger protein 273 372 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.K372K(2) breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 Lung NSC(55;0.0295)|all_lung(88;0.0691) CTGGAGAGAAACCCTACAAAT 0.383000 7 669 0 0 1 0 0 TROAP 10024 broad.mit.edu 37 12 49724313 49724313 + Missense_Mutation SNP G G T TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr12:49724313G>T ENST00000551245.1 + 13 1796 c.1685G>T c.(1684-1686)aGt>aTt p.S562I TROAP_ENST00000257909.3_Missense_Mutation_p.S562I|TROAP_ENST00000547923.1_Missense_Mutation_p.S270I Q12815 TROAP_HUMAN trophinin associated protein 562 4 X 33 AA approximate tandem repeats.|Cys-rich. cell adhesion cytoplasm p.S562I(1) breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 32 TGCTGTAGGAGTGAGCCTGAG 0.592000 7 424 2.0095e-06 2.10136e-06 1 1 0 SIGLEC15 284266 broad.mit.edu 37 18 43417042 43417042 + Missense_Mutation SNP C C T TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr18:43417042C>T ENST00000389474.3 + 2 318 c.101C>T c.(100-102)aCa>aTa p.T34I SIGLEC15_ENST00000602118.2_3'UTR|SIGLEC15_ENST00000546268.1_5'UTR NM_213602.2 NP_998767.1 Q6ZMC9 SIG15_HUMAN sialic acid binding Ig-like lectin 15 34 integral to membrane endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1) 4 ttgctcaacacagaggtgcac 0.438000 170 244 0 0 1 0 0 ZNF429 353088 broad.mit.edu 37 19 21720411 21720411 + Missense_Mutation SNP T T A TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr19:21720411T>A ENST00000358491.4 + 4 1764 c.1556T>A c.(1555-1557)aTc>aAc p.I519N ZNF429_ENST00000597078.1_Intron NM_001001415.2 NP_001001415.2 Q86V71 ZN429_HUMAN zinc finger protein 429 519 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2) 34 AAAGCTTTTATCCTGTCCTCA 0.378000 6 564 0 0 1 0 0 LINC00264 0 broad.mit.edu 37 10 26880266 26880266 + RNA SNP G G A rs138111133 by1000genomes TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr10:26880266G>A ENST00000412114.1 + 0 501 NR_026793.1 ACCAAGCCCAGTGGACAGATG 0.443000 5 171 0 0 1 0 0 SRSF6 6431 broad.mit.edu 37 20 42088842 42088842 + Missense_Mutation SNP G G A rs147863077 byFrequency TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr20:42088842G>A ENST00000244020.3 + 4 657 c.551G>A c.(550-552)cGc>cAc p.R184H NM_006275.5 NP_006266.2 Q13247 SRSF6_HUMAN serine/arginine-rich splicing factor 6 184 Arg/Ser-rich (RS domain). mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription nucleoplasm nucleotide binding|protein binding|RNA binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|upper_aerodigestive_tract(2) 5 GATAAGCCACGCACAAGCCAT 0.418000 64 230 0 0 1 0 0 ZNF626 199777 broad.mit.edu 37 19 20807517 20807517 + Missense_Mutation SNP A A C TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr19:20807517A>C ENST00000601440.1 - 4 1312 c.1166T>G c.(1165-1167)aTa>aGa p.I389R CTC-513N18.7_ENST00000595094.1_lincRNA NM_001076675.2 NP_001070143.1 Q68DY1 ZN626_HUMAN zinc finger protein 626 389 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(1)|lung(3)|skin(1) 6 AGTATGAATTATCTTATGCGT 0.383000 7 725 0 0 1 0 0 MSR1 0 broad.mit.edu 37 8 15967636 15967636 + Silent SNP G G A TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr8:15967636G>A ENST00000350896.3 - 9 1322 c.1125C>T c.(1123-1125)gcC>gcT p.A375A MSR1_ENST00000262101.5_Silent_p.A438A|MSR1_ENST00000445506.2_Silent_p.A456A|MSR1_ENST00000355282.2_Silent_p.A375A NM_138715.2|NM_138716.2 NP_619729.1|NP_619730.1 P21757 MSRE_HUMAN macrophage scavenger receptor 1 438 SRCR. cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis collagen|integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|protein binding|scavenger receptor activity haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 37 Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164) AATGTGAACAGGCTCTTGTCC 0.368000 5 361 0 0 1 0 0 PRAMEF1 65121 broad.mit.edu 37 1 12853441 12853441 + Missense_Mutation SNP C C A rs75270454 byFrequency TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr1:12853441C>A ENST00000332296.7 + 2 168 c.65C>A c.(64-66)gCc>gAc p.A22D NM_023013.2 NP_075389.1 O95521 PRAM1_HUMAN PRAME family member 1 22 p.A22D(2) cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 35 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) AGAGACCAGGCCTTGTCCATC 0.562000 7 564 1.16021e-09 1.24893e-09 1 1 0 BPIFB4 149954 broad.mit.edu 37 20 31685516 31685516 + Missense_Mutation SNP G G A TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr20:31685516G>A ENST00000375483.3 + 11 1492 c.1492G>A c.(1492-1494)Gtg>Atg p.V498M NM_182519.2 NP_872325.2 P59827 LPLC4_HUMAN BPI fold containing family B, member 4 498 cytoplasm|extracellular region lipid binding CAAAGCGCTGGTGAAGGTGTT 0.572000 129 391 0 0 1 0 0 ZNF493 284443 broad.mit.edu 37 19 21606468 21606468 + Missense_Mutation SNP C C T rs142651314 byFrequency TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr19:21606468C>T ENST00000392288.2 + 4 1116 c.1007C>T c.(1006-1008)cCt>cTt p.P336L CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000355504.4_Missense_Mutation_p.P208L NM_001076678.2 NP_001070146.1 Q6ZR52 ZN493_HUMAN zinc finger protein 493 208 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 30 TTCTCAACCCCTACTAAACAT 0.348000 8 601 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628270 29628270 + Missense_Mutation SNP G G A TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr20:29628270G>A ENST00000278882.3 + 6 652 c.272G>A c.(271-273)tGc>tAc p.C91Y FRG1B_ENST00000358464.4_Missense_Mutation_p.C91Y|FRG1B_ENST00000439954.2_Missense_Mutation_p.C96Y endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TTTATTAGATGCAATGAAGCA 0.363000 6 743 0 0 1 0 0 UBBP4 0 broad.mit.edu 37 17 21730916 21730916 + Missense_Mutation SNP G G T rs111245273 by1000genomes TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr17:21730916G>T ENST00000584755.1 + 2 615 c.218G>T c.(217-219)cGg>cTg p.R73L UBBP4_ENST00000578713.1_Missense_Mutation_p.R73L|UBBP4_ENST00000583708.1_Intron|UBBP4_ENST00000584398.1_Intron p.R73L(24) endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 GTCCTGCGTCGGAGAGGTGGT 0.552000 13 414 1.33834e-09 1.43226e-09 1 1 0 LDB3 11155 broad.mit.edu 37 10 88459097 88459097 + Missense_Mutation SNP G G C TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr10:88459097G>C ENST00000372056.4 + 8 1186 c.1163G>C c.(1162-1164)gGc>gCc p.G388A LDB3_ENST00000429277.2_Intron|LDB3_ENST00000372066.3_Missense_Mutation_p.G273A|LDB3_ENST00000361373.4_Intron|LDB3_ENST00000542786.1_3'UTR|LDB3_ENST00000352360.5_Intron|LDB3_ENST00000310944.6_Missense_Mutation_p.G320A|LDB3_ENST00000263066.6_Intron|LDB3_ENST00000458213.2_Intron NM_001171611.1 NP_001165082.1 O75112 LDB3_HUMAN LIM domain binding 3 0 cytoskeleton|perinuclear region of cytoplasm|pseudopodium zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1) 25 TGGCACCATGGCCTTTCAGCC 0.522000 372 59 0 0 1 0 0 RP11-114H24.7 0 broad.mit.edu 37 15 78211648 78211648 + RNA SNP A A G TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr15:78211648A>G ENST00000565869.1 + 0 111 RP11-114H24.2_ENST00000567226.1_RNA CGCCAGGGATAGGGGCTCAGC 0.522000 4 184 0 0 1 0 0 KLF12 11278 broad.mit.edu 37 13 74387392 74387392 + Missense_Mutation SNP G G T TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr13:74387392G>T ENST00000377669.2 - 4 729 c.703C>A c.(703-705)Caa>Aaa p.Q235K KLF12_ENST00000377666.4_Missense_Mutation_p.Q235K|KLF12_ENST00000472022.1_5'UTR NM_007249.4 NP_009180.3 Q9Y4X4 KLF12_HUMAN Kruppel-like factor 12 235 negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|skin(1) 16 Prostate(6;0.00217)|Breast(118;0.0838) GBM - Glioblastoma multiforme(99;0.00677) CTTTTACTTTGTCTGGGAGAT 0.443000 261 361 4.44338e-121 5.08212e-121 1 1 0 TRBV7-7 0 broad.mit.edu 37 7 142119945 142119945 + RNA SNP T T C TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr7:142119945T>C ENST00000390377.1 - 0 221 CTGATTTGTCTGGTTGAGCTT 0.532000 225 284 0 0 1 0 0 CD209 30835 broad.mit.edu 37 19 7810767 7810767 + Missense_Mutation SNP G G A rs146082308 TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr19:7810767G>A ENST00000315599.7 - 4 407 c.385C>T c.(385-387)Cgg>Tgg p.R129W CD209_ENST00000354397.6_Missense_Mutation_p.R129W|CD209_ENST00000394161.5_Intron|CD209_ENST00000602261.1_Missense_Mutation_p.R129W|CD209_ENST00000601951.1_Missense_Mutation_p.R105W|CD209_ENST00000394173.4_Intron|CD209_ENST00000315591.8_Missense_Mutation_p.R105W|CD209_ENST00000601256.1_Missense_Mutation_p.R105W|CD209_ENST00000301357.8_Missense_Mutation_p.R85W|CD209_ENST00000204801.8_Missense_Mutation_p.R85W|CD209_ENST00000593821.1_Missense_Mutation_p.R85W|CD209_ENST00000593660.1_Missense_Mutation_p.R105W NM_001144895.1|NM_001144897.1|NM_021155.3 NP_001138367.1|NP_001138369.1|NP_066978.1 Q9NNX6 CD209_HUMAN CD209 molecule 129 7 X approximate tandem repeats. cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor cytoplasm|extracellular region|integral to membrane|plasma membrane mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding p.R129W(4) endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 GCCTTCAGCCGGGTCAGCTCC 0.567000 7 1507 0 0 1 0 0 TRIM47 91107 broad.mit.edu 37 17 73870863 73870863 + Missense_Mutation SNP G G C TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr17:73870863G>C ENST00000254816.2 - 6 1644 c.1618C>G c.(1618-1620)Ctg>Gtg p.L540V TRIM47_ENST00000587339.1_Missense_Mutation_p.L302V NM_033452.2 NP_258411.2 Q96LD4 TRI47_HUMAN tripartite motif containing 47 540 B30.2/SPRY. cytoplasm|nucleus zinc ion binding autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 22 Epithelial(20;4.23e-06)|all cancers(21;5.24e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154) GGGTGGGGCAGGGGAGCCTCC 0.667000 209 143 0 0 1 0 0 AQP7 364 broad.mit.edu 37 9 33385614 33385614 + Missense_Mutation SNP A A T rs140995428 by1000genomes TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr9:33385614A>T ENST00000541274.1 - 5 830 c.381T>A c.(379-381)agT>agA p.S127R AQP7_ENST00000377425.4_Intron|AQP7_ENST00000537089.1_3'UTR|AQP7_ENST00000539936.1_3'UTR O14520 AQP7_HUMAN aquaporin 7 0 excretion|generation of precursor metabolites and energy cell-cell junction|cytoplasm|integral to plasma membrane glycerol channel activity|water channel activity NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1) 17 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.191) CCACAGAAAAACTCAAAGGAA 0.632000 12 423 0 0 1 0 0 NCOA6 23054 broad.mit.edu 37 20 33345744 33345744 + Silent SNP C C T TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr20:33345744C>T ENST00000374796.2 - 8 3377 c.807G>A c.(805-807)caG>caA p.Q269Q NCOA6_ENST00000359003.2_Silent_p.Q269Q Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 269 CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding p.Q269Q(15) NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 gctgctgctgctgttgttgtt 0.537000 7 251 0 0 1 0 0 ATM 472 broad.mit.edu 37 11 108236153 108236153 + Missense_Mutation SNP G G T TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr11:108236153G>T ENST00000278616.4 + 63 9474 c.9089G>T c.(9088-9090)gGa>gTa p.G3030V C11orf65_ENST00000525729.1_Intron|C11orf65_ENST00000526725.1_Intron|ATM_ENST00000452508.2_Missense_Mutation_p.G3030V|ATM_ENST00000525178.1_3'UTR NM_000051.3 NP_000042.3 Q13315 ATM_HUMAN ataxia telangiectasia mutated 3030 FATC. cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 448 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) AGTGTTGGTGGACAAGTGAAT 0.433000 """D, Mis, N, F, S""" T-PLL """leukemia, lymphoma, medulloblastoma, glioma""" Genes defective in diseases associated with sensitivity to DNA damaging agents Ataxia Telangiectasia TSP Lung(14;0.12) 88 126 3.33908e-46 3.63721e-46 1 1 0 KCNA6 3742 broad.mit.edu 37 12 4919415 4919415 + Missense_Mutation SNP C C T TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr12:4919415C>T ENST00000433855.1 + 1 1074 c.208C>T c.(208-210)Cct>Tct p.P70S KCNA6_ENST00000280684.3_Missense_Mutation_p.P70S NM_002235.3 NP_002226.1 P17658 KCNA6_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 6 70 voltage-gated potassium channel complex voltage-gated potassium channel activity NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5) 49 GCTCGGAGACCCTGGCCGGCG 0.607000 HNSCC(72;0.22) 204 154 0 0 1 0 0 MACF1 23499 broad.mit.edu 37 1 39799857 39799857 + Missense_Mutation SNP G G A TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr1:39799857G>A ENST00000564288.1 + 37 8374 c.7597G>A c.(7597-7599)Gag>Aag p.E2533K MACF1_ENST00000372915.3_Missense_Mutation_p.E2538K|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000567887.1_Missense_Mutation_p.E2570K|MACF1_ENST00000289893.4_Missense_Mutation_p.E973K|MACF1_ENST00000539005.1_Intron Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 2538 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) AGATTTAGCCGAGAAACTCAA 0.358000 115 201 0 0 1 0 0 RERE 473 broad.mit.edu 37 1 8716284 8716285 + Frame_Shift_Del DEL TC TC - TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr1:8716284_8716285delTC ENST00000337907.3 - 3 706_707 c.72_73delGA c.(70-75)gaaafs p.EK24fs RERE_ENST00000400908.2_Frame_Shift_Del_p.EK24fs|RERE_ENST00000400907.2_Frame_Shift_Del_p.EK24fs NM_012102.3 NP_036234.3 Q9P2R6 RERE_HUMAN arginine-glutamic acid dipeptide (RE) repeats 24 multicellular organismal development|NLS-bearing substrate import into nucleus mitochondrion poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Ovarian(185;0.0661) all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195) TTGTCTCTTTTCtctctctctc 0.505 10 653 --- --- --- --- AADACL3 126767 broad.mit.edu 37 1 12785492 12785493 + Frame_Shift_Ins INS - - T TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr1:12785492_12785493insT ENST00000332530.3 + 3 598_599 c.372_373insT c.(370-375)tagtttfs p.*F124fs AADACL3_ENST00000359318.5_Frame_Shift_Ins_p.*F194fs NM_001103169.1 NP_001096639.1 Q5VUY0 ADCL3_HUMAN arylacetamide deacetylase-like 3 194 hydrolase activity breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1) 15 Ovarian(185;0.249) Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649) TCATCTGCTACTGTTTTTTTCA 0.455 9 694 --- --- --- --- SRSF4 6429 broad.mit.edu 37 1 29475219 29475221 + In_Frame_Del DEL CTT CTT - rs138237342 by1000genomes TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr1:29475219_29475221delCTT ENST00000373795.4 - 6 1420_1422 c.1186_1188delAAG c.(1186-1188)del p.K396del SRSF4_ENST00000546138.1_3'UTR|SRSF4_ENST00000466448.1_5'UTR NM_005626.4 NP_005617.2 Q08170 SRSF4_HUMAN serine/arginine-rich splicing factor 4 396 Arg/Ser-rich (RS domain). mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription nuclear speck nucleotide binding|RNA binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(1) 27 CAGTGTCTTCCTTCTTCTTCTTC 0.601 7 526 --- --- --- --- ZMYM4 9202 broad.mit.edu 37 1 35846959 35846960 + Frame_Shift_Ins INS - - A TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr1:35846959_35846960insA ENST00000314607.6 + 8 1361_1362 c.1281_1282insA c.(1279-1284)ctaaaafs p.LK427fs ZMYM4_ENST00000373297.2_Frame_Shift_Ins_p.LK427fs NM_005095.2 NP_005086.2 Q5VZL5 ZMYM4_HUMAN zinc finger, MYM-type 4 427 multicellular organismal development DNA binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2) 54 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) CATATGAACTGAAAAAAAAACC 0.342 7 327 --- --- --- --- TMCO2 127391 broad.mit.edu 37 1 40713708 40713709 + Frame_Shift_Del DEL TC TC - TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr1:40713708_40713709delTC ENST00000372766.3 + 1 136_137 c.43_44delTC c.(43-45)tfs p.S15fs TMCO2_ENST00000468258.1_Intron NM_001008740.3 NP_001008740.1 Q7Z6W1 TMCO2_HUMAN transmembrane and coiled-coil domains 2 15 integral to membrane kidney(1)|large_intestine(3)|lung(1)|ovary(1) 6 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;6.3e-18) CCTCTTAGAGTCTCTCTCTCTC 0.406 7 744 --- --- --- --- SLC6A9 6536 broad.mit.edu 37 1 44489938 44489938 + Frame_Shift_Del DEL T T - TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr1:44489938delT ENST00000372310.3 - 2 177 c.12delA c.(10-12)aafs p.K4fs SLC6A9_ENST00000475075.2_5'UTR|SLC6A9_ENST00000492434.2_5'UTR|SLC6A9_ENST00000372306.3_Frame_Shift_Del_p.K4fs|SLC6A9_ENST00000537678.1_5'UTR NM_001024845.2 NP_001020016.1 P48067 SC6A9_HUMAN solute carrier family 6 (neurotransmitter transporter, glycine), member 9 335 integral to plasma membrane|membrane fraction glycine:sodium symporter activity|neurotransmitter:sodium symporter activity endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2) 22 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0511) Glycine(DB00145) CTTTGGCACCTTTTCCTACCA 0.627 7 1200 --- --- --- --- CYP4Z2P 0 broad.mit.edu 37 1 47310359 47310360 + RNA INS - - T TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr1:47310359_47310360insT ENST00000505841.1 - 0 1269 NR_002788.2 CAAAAACAAAACCCTAGATATT 0.421 9 51 --- --- --- --- BCL10 8915 broad.mit.edu 37 1 85736511 85736511 + Frame_Shift_Del DEL T T - TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr1:85736511delT ENST00000370580.1 - 2 873 c.136delA c.(136-138)tafs p.I46fs NM_003921.4 NP_003912.1 O95999 BCL10_HUMAN B-cell CLL/lymphoma 10 46 CARD. apoptosis|cellular response to mechanical stimulus|innate immune response|interleukin-6 biosynthetic process|lymphotoxin A biosynthetic process|negative regulation of mature B cell apoptosis|neural tube closure|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 biosynthetic process|positive regulation of mast cell cytokine production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of transcription, DNA-dependent|protein homooligomerization|response to molecule of bacterial origin|T cell receptor signaling pathway CBM complex|cytosol|lysosome|membrane raft|nucleus|perinuclear region of cytoplasm NF-kappaB binding|protease binding|protein C-terminus binding|protein kinase B binding|protein self-association|transcription coactivator activity|ubiquitin binding|ubiquitin protein ligase binding p.I46fs*4(1) haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1) 19 all cancers(265;0.0114)|Epithelial(280;0.0311) CTACTGAGTATTTTTTTTGCA 0.343 T IGH@ MALT 9 427 --- --- --- --- SYCP1 6847 broad.mit.edu 37 1 115537600 115537601 + Frame_Shift_Ins INS - - A TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr1:115537600_115537601insA ENST00000369522.3 + 32 3131_3132 c.2891_2892insA c.(2890-2892)aaafs p.K964fs SYCP1_ENST00000477590.1_3'UTR|SYCP1_ENST00000369518.1_Frame_Shift_Ins_p.K964fs NM_003176.2 NP_003167.2 Q15431 SYCP1_HUMAN synaptonemal complex protein 1 964 Arg/Lys-rich (basic). cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly DNA binding RGS22/SYCP1(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 48 Lung SC(450;0.211) all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) AAAATGGATAGAAAAAAAAAAC 0.356 21 252 --- --- --- --- PRRC2C 23215 broad.mit.edu 37 1 171511148 171511149 + Frame_Shift_Ins INS - - A TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr1:171511148_171511149insA ENST00000367742.3 + 16 4785_4786 c.4543_4544insA c.(4543-4545)aaafs p.K1515fs PRRC2C_ENST00000338920.4_Frame_Shift_Ins_p.K1513fs|PRRC2C_ENST00000392078.3_Frame_Shift_Ins_p.K1515fs|PRRC2C_ENST00000426496.2_Frame_Shift_Ins_p.K1513fs Q9Y520 PRC2C_HUMAN proline-rich coiled-coil 2C 1513 protein C-terminus binding AGAGAGGGATGAAAAAAAAAAT 0.391 11 231 --- --- --- --- AC016995.3 0 broad.mit.edu 37 2 38710019 38710019 + RNA DEL T T - rs2005502 by1000genomes TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr2:38710019delT ENST00000417039.1 - 0 696 CTTtaaaaaataaataaataa 0.244 4 3 --- --- --- --- AC105399.2 0 broad.mit.edu 37 2 78020197 78020199 + RNA DEL TCC TCC - TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr2:78020197_78020199delTCC ENST00000422418.1 + 0 402_404 ATACTAAAAATCCTaaaaaaaaa 0.320 7 25 --- --- --- --- CH17-132F21.1 0 broad.mit.edu 37 2 90458648 90458648 + Frame_Shift_Del DEL T T - TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr2:90458648delT ENST00000603238.1 + 2 324 c.324delT c.(322-324)tgfs p.108fs CTTATTACTGTCAACAGAGTG 0.512 8 2864 --- --- --- --- GIGYF2 26058 broad.mit.edu 37 2 233712228 233712230 + In_Frame_Del DEL CAG CAG - rs72096937 TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr2:233712228_233712230delCAG ENST00000373566.3 + 28 3894_3896 c.3697_3699delCAG c.(3697-3699)del p.Q1238del GIGYF2_ENST00000409547.1_In_Frame_Del_p.Q1216del|GIGYF2_ENST00000409196.3_In_Frame_Del_p.Q1210del|GIGYF2_ENST00000373563.4_In_Frame_Del_p.Q1216del|GIGYF2_ENST00000409451.3_In_Frame_Del_p.Q1237del|GIGYF2_ENST00000409480.1_In_Frame_Del_p.Q1238del Q6Y7W6 PERQ2_HUMAN GRB10 interacting GYF protein 2 1216 Gln-rich. cell death protein binding p.Q1216delQ(2)|p.Q1237delQ(1) NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 63 Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839) Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145) gcagctgccacagcagcagcagc 0.547 8 196 --- --- --- --- GAL3ST2 64090 broad.mit.edu 37 2 242738494 242738496 + In_Frame_Del DEL TCC TCC - TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr2:242738494_242738496delTCC ENST00000192314.6 + 2 175_177 c.44_46delTCC c.(43-48)atc>a p.IL15del NM_022134.2 NP_071417.2 Q9H3Q3 G3ST2_HUMAN galactose-3-O-sulfotransferase 2 15 biosynthetic process Golgi cisterna membrane|integral to membrane galactosylceramide sulfotransferase activity p.L16I(1) endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|skin(1) 14 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;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-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;0.0833) TTCCGGGTCATCCTCCTCCTCCT 0.631 13 306 --- --- --- --- AC034193.5 0 broad.mit.edu 37 3 10035779 10035783 + RNA DEL AGTCT AGTCT - rs35714562 TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr3:10035779_10035783delAGTCT ENST00000326237.3 + 0 354 GGGGAAGAGAAGTCTGATCTGACAT 0.380 11 126 --- --- --- --- NKTR 4820 broad.mit.edu 37 3 42680269 42680271 + In_Frame_Del DEL GAG GAG - TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr3:42680269_42680271delGAG ENST00000232978.8 + 13 3261_3263 c.3073_3075delGAG c.(3073-3075)del p.E1029del RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA NM_005385.3 NP_005376.2 P30414 NKTR_HUMAN natural killer-tumor recognition sequence 1029 protein folding membrane cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 41 KIRC - Kidney renal clear cell carcinoma(284;0.24) ATTTGGTGAAGAGGAGGAGGAGG 0.355 8 350 --- --- --- --- CCKAR 886 broad.mit.edu 37 4 26483672 26483674 + In_Frame_Del DEL CTG CTG - TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr4:26483672_26483674delCTG ENST00000295589.3 - 5 1067_1069 c.873_875delCAG c.(871-876)agg>ag p.SR291del NM_000730.2 NP_000721.1 P32238 CCKAR_HUMAN cholecystokinin A receptor 291 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient integral to plasma membrane cholecystokinin receptor activity NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1) 29 Breast(46;0.0503) Ceruletide(DB00403) GCGGTTGGCCCTGCTGCTGCTGC 0.606 8 776 --- --- --- --- UBE2K 3093 broad.mit.edu 37 4 39779392 39779392 + Frame_Shift_Del DEL A A - TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr4:39779392delA ENST00000261427.5 + 6 774 c.490delA c.(490-492)aafs p.K165fs UBE2K_ENST00000295963.6_Frame_Shift_Del_p.K104fs|UBE2K_ENST00000503368.1_Frame_Shift_Del_p.K114fs|UBE2K_ENST00000438068.2_3'UTR|UBE2K_ENST00000445950.2_Intron NM_001111112.1|NM_005339.4 NP_001104582.1|NP_005330.1 P61086 UBE2K_HUMAN ubiquitin-conjugating enzyme E2K 165 UBA. protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process cytoplasm ATP binding|ubiquitin protein ligase binding|ubiquitin-ubiquitin ligase activity large_intestine(1)|lung(1)|ovary(2) 4 AGAATACACCAAAAAAATAGA 0.363 8 951 --- --- --- --- GABRG1 2565 broad.mit.edu 37 4 46060358 46060358 + Frame_Shift_Del DEL A A - TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr4:46060358delA ENST00000295452.4 - 7 959 c.792delT c.(790-792)ttfs p.F264fs NM_173536.3 NP_775807.2 Q8N1C3 GBRG1_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 1 264 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity p.F264fs*3(1) breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 76 Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23) TGCTCAGGTCAAAAAAAATTG 0.294 13 439 --- --- --- --- CLOCK 9575 broad.mit.edu 37 4 56304530 56304532 + In_Frame_Del DEL CTG CTG - TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr4:56304530_56304532delCTG ENST00000309964.4 - 21 2528_2530 c.2278_2280delCAG c.(2278-2280)del p.Q760del CLOCK_ENST00000513440.1_In_Frame_Del_p.Q760del|CLOCK_ENST00000381322.1_In_Frame_Del_p.Q760del NM_004898.3 NP_004889.1 O15516 CLOCK_HUMAN clock circadian regulator 760 Gln-rich. circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter cytoplasm|transcription factor complex DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 38 Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101) LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107) cctgggagctctgctgctgctgc 0.512 10 344 --- --- --- --- C4orf22 255119 broad.mit.edu 37 4 81791254 81791254 + Frame_Shift_Del DEL A A - TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr4:81791254delA ENST00000358105.3 + 4 490 c.441delA c.(439-441)ggfs p.G147fs C4orf22_ENST00000508675.1_Frame_Shift_Del_p.G164fs NM_152770.2 NP_689983.2 Q6V702 CD022_HUMAN chromosome 4 open reading frame 22 147 NS(1)|large_intestine(3)|lung(5)|prostate(1)|skin(5) 15 ACTTTACTGGAAAAAAAAGAC 0.373 10 732 --- --- --- --- WDFY3 23001 broad.mit.edu 37 4 85611708 85611709 + Frame_Shift_Del DEL CA CA - TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr4:85611708_85611709delCA ENST00000322366.6 - 60 9669_9670 c.9262_9263delTG c.(9262-9264)gfs p.W3088fs WDFY3_ENST00000295888.4_Frame_Shift_Del_p.W3105fs Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 3105 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) GCCCATCTCCCACACACACACA 0.510 7 481 --- --- --- --- NAP1L5 266812 broad.mit.edu 37 4 89618431 89618433 + In_Frame_Del DEL CCT CCT - TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr4:89618431_89618433delCCT ENST00000323061.5 - 1 953_955 c.473_475delAGG c.(472-477)gct>g p.EA158del HERC3_ENST00000264345.3_Intron|HERC3_ENST00000543130.1_Intron|HERC3_ENST00000402738.1_Intron NM_153757.2 NP_715638.1 Q96NT1 NP1L5_HUMAN nucleosome assembly protein 1-like 5 158 Glu-rich. nucleosome assembly nucleus protein binding endometrium(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 7 OV - Ovarian serous cystadenocarcinoma(123;0.000181) TCTGCCGCAGcctcctcctcctc 0.626 8 772 --- --- --- --- NPNT 255743 broad.mit.edu 37 4 106863682 106863684 + In_Frame_Del DEL CCA CCA - TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr4:106863682_106863684delCCA ENST00000379987.2 + 8 1198_1200 c.982_984delCCA c.(982-984)del p.P333del NPNT_ENST00000305572.8_In_Frame_Del_p.P333del|NPNT_ENST00000506666.1_In_Frame_Del_p.P363del|NPNT_ENST00000453617.2_In_Frame_Del_p.P350del|NPNT_ENST00000514622.1_In_Frame_Del_p.P333del|NPNT_ENST00000427316.2_In_Frame_Del_p.P363del NM_001033047.2 NP_001028219.1 Q6UXI9 NPNT_HUMAN nephronectin 333 Pro-rich. cell differentiation membrane calcium ion binding kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1) 21 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;5.41e-07) AATTCCTACTCCACCACCACCAC 0.522 8 495 --- --- --- --- ADAD1 132612 broad.mit.edu 37 4 123302211 123302211 + Frame_Shift_Del DEL A A - TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr4:123302211delA ENST00000296513.2 + 4 422 c.237delA c.(235-237)ccfs p.P79fs ADAD1_ENST00000388725.2_Frame_Shift_Del_p.P61fs|ADAD1_ENST00000492454.1_3'UTR|ADAD1_ENST00000388724.2_Frame_Shift_Del_p.P79fs NM_139243.3 NP_640336.1 Q96M93 ADAD1_HUMAN adenosine deaminase domain containing 1 (testis-specific) 79 multicellular organismal development|RNA processing nucleus adenosine deaminase activity|double-stranded RNA binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 35 TCCTTCCTCCAAAAAAAATAC 0.358 9 613 --- --- --- --- LARP1B 55132 broad.mit.edu 37 4 129127627 129127627 + Frame_Shift_Del DEL A A - TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr4:129127627delA ENST00000326639.6 + 18 2565 c.2354delA c.(2353-2355)gafs p.E785fs LARP1B_ENST00000506199.1_3'UTR|LARP1B_ENST00000354456.3_Frame_Shift_Del_p.E204fs|LARP1B_ENST00000441387.1_Intron|LARP1B_ENST00000264584.5_Frame_Shift_Del_p.E726fs NM_018078.2 NP_060548.2 Q659C4 LAR1B_HUMAN La ribonucleoprotein domain family, member 1B 785 RNA binding endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3) 34 TATGGACTGGAAAAAAAATTC 0.289 11 753 --- --- --- --- OTUD4 54726 broad.mit.edu 37 4 146077123 146077125 + In_Frame_Del DEL CAG CAG - TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr4:146077123_146077125delCAG ENST00000454497.2 - 8 595_597 c.458_460delCTG c.(457-462)gat>g p.AD153del OTUD4_ENST00000455611.2_5'UTR|OTUD4_ENST00000447906.2_In_Frame_Del_p.AD218del NM_001102653.1 NP_001096123.1 Q01804 OTUD4_HUMAN OTU domain containing 4 218 OTU. protein binding breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 all_hematologic(180;0.151) CCATTCACATCAGCAGCAGCAGC 0.340 12 620 --- --- --- --- VEGFC 7424 broad.mit.edu 37 4 177608415 177608415 + Frame_Shift_Del DEL T T - TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr4:177608415delT ENST00000280193.2 - 6 1486 c.1071delA c.(1069-1071)aafs p.K357fs RP11-313E19.2_ENST00000509194.1_RNA|RP11-313E19.2_ENST00000504017.1_RNA NM_005429.2 NP_005420.1 P49767 VEGFC_HUMAN vascular endothelial growth factor C 357 4 X 16 AA repeats of C-X(10)-C-X-C- X(1,3)-C. angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway membrane|platelet alpha granule lumen chemoattractant activity|growth factor activity biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2) 41 Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397) CACAGGCACATTTTCCAGGAT 0.428 7 1680 --- --- --- --- FRG1 2483 broad.mit.edu 37 4 190873437 190873439 + In_Frame_Del DEL AAG AAG - TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr4:190873437_190873439delAAG ENST00000226798.4 + 3 476_478 c.254_256delAAG c.(253-258)aaa>a p.KE85del FRG1_ENST00000514482.1_3'UTR NM_004477.2 NP_004468.1 Q14331 FRG1_HUMAN FSHD region gene 1 85 rRNA processing Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1) 32 all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147) all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161) GCTCCACACAAAGAAGGTTTGTG 0.414 9 940 --- --- --- --- TRIM23 373 broad.mit.edu 37 5 64910015 64910016 + Frame_Shift_Ins INS - - T TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr5:64910015_64910016insT ENST00000231524.9 - 3 646_647 c.275_276insA c.(274-276)attfs p.I92fs TRIM23_ENST00000381018.3_Frame_Shift_Ins_p.I92fs|TRIM23_ENST00000274327.7_Frame_Shift_Ins_p.I92fs NM_001656.3 NP_001647.1 P36406 TRI23_HUMAN tripartite motif containing 23 92 interspecies interaction between organisms|small GTPase mediated signal transduction Golgi membrane|lysosomal membrane enzyme activator activity|GDP binding|GTP binding|GTPase activity|protein binding|ubiquitin-protein ligase activity|zinc ion binding p.N92I(1)|p.N92K(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 28 Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234) Lung(70;0.00473) ATAAAGCAAAATTTTTTTTCAA 0.356 7 596 --- --- --- --- MSH3 4437 broad.mit.edu 37 5 79970915 79970915 + Frame_Shift_Del DEL A A - TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr5:79970915delA ENST00000265081.6 + 7 1221 c.1141delA c.(1141-1143)aafs p.K383fs NM_002439.4 NP_002430.3 P20585 MSH3_HUMAN mutS homolog 3 383 maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments MutSbeta complex|nuclear chromosome ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244) OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33) TGTTAGGGACAAAAAAAAGGG 0.348 Mismatch excision repair (MMR) 7 740 --- --- --- --- RASGRF2 5924 broad.mit.edu 37 5 80409566 80409568 + In_Frame_Del DEL CCA CCA - TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr5:80409566_80409568delCCA ENST00000265080.4 + 15 2364_2366 c.2297_2299delCCA c.(2296-2301)ccc>c p.PT766del CTD-2193P3.2_ENST00000508993.1_RNA NM_006909.2 NP_008840.1 O14827 RGRF2_HUMAN Ras protein-specific guanine nucleotide-releasing factor 2 766 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|endoplasmic reticulum membrane|plasma membrane protein binding|Rho guanyl-nucleotide exchange factor activity biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357) OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29) TCCAGCAGTCCCACCACCACCAC 0.562 7 439 --- --- --- --- SLC22A4 6583 broad.mit.edu 37 5 131676327 131676327 + Frame_Shift_Del DEL T T - rs72552721 TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr5:131676327delT ENST00000200652.3 + 9 1688 c.1514delT c.(1513-1515)ctfs p.L505fs AC034220.3_ENST00000417795.1_RNA|AC034220.3_ENST00000437091.1_RNA NM_003059.2 NP_003050.2 Q9H015 S22A4_HUMAN solute carrier family 22 (organic cation/zwitterion transporter), member 4 505 body fluid secretion|sodium ion transport apical plasma membrane|integral to plasma membrane|mitochondrion ATP binding|carnitine transporter activity|cation:cation antiporter activity|PDZ domain binding|secondary active organic cation transmembrane transporter activity|symporter activity p.E509fs*1(1) endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1) 16 all_cancers(142;0.0752)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) L-Carnitine(DB00583) ATCCTCACCCTTTTTTTCCCT 0.418 9 1020 --- --- --- --- KDM3B 51780 broad.mit.edu 37 5 137754813 137754814 + Frame_Shift_Del DEL AG AG - TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr5:137754813_137754814delAG ENST00000314358.5 + 14 3807_3808 c.3607_3608delAG c.(3607-3609)tfs p.S1203fs KDM3B_ENST00000508386.1_3'UTR|KDM3B_ENST00000394866.1_Frame_Shift_Del_p.S859fs|KDM3B_ENST00000542866.1_Frame_Shift_Del_p.S235fs NM_016604.3 NP_057688.2 Q7LBC6 KDM3B_HUMAN lysine (K)-specific demethylase 3B 1203 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 65 AAATAGCAATAGTGAACTGAAA 0.520 91 216 --- --- --- --- PCDHGB7 0 broad.mit.edu 37 5 140799824 140799826 + In_Frame_Del DEL AAG AAG - TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr5:140799824_140799826delAAG ENST00000398594.2 + 1 2398_2400 c.2398_2400delAAG c.(2398-2400)del p.K801del PCDHGA7_ENST00000518325.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron NM_018927.3 NP_061750.1 central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3) 56 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGAAGCAGATAAGAAGATTCTTA 0.305 167 160 --- --- --- --- RNF145 153830 broad.mit.edu 37 5 158630629 158630630 + Frame_Shift_Ins INS - - T rs114633421 byFrequency TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr5:158630629_158630630insT ENST00000274542.2 - 2 106_107 c.80_81insA c.(79-81)aaafs p.K27fs RNF145_ENST00000519865.1_5'UTR|RNF145_ENST00000424310.2_5'UTR|RNF145_ENST00000520638.1_Frame_Shift_Ins_p.K13fs|RNF145_ENST00000518802.1_Frame_Shift_Ins_p.K29fs|RNF145_ENST00000521606.2_Frame_Shift_Ins_p.K16fs NM_144726.2 NP_653327.1 Q96MT1 RN145_HUMAN ring finger protein 145 0 integral to membrane zinc ion binding p.N27K(1) endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 30 Renal(175;0.00196) Medulloblastoma(196;0.0523) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CAGCCATGTTGttttttttttt 0.376 8 323 --- --- --- --- GRK6 2870 broad.mit.edu 37 5 176863219 176863221 + In_Frame_Del DEL GAA GAA - rs76969408 TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr5:176863219_176863221delGAA ENST00000355472.5 + 12 1371_1373 c.1203_1205delGAA c.(1201-1206)gtg>gt p.VK401del GRK6_ENST00000507633.1_In_Frame_Del_p.VK401del|GRK6_ENST00000355958.5_In_Frame_Del_p.VK401del|GRK6_ENST00000528793.1_In_Frame_Del_p.VK401del|GRK6_ENST00000393576.3_In_Frame_Del_p.VK367del NM_001004106.2|NM_002082.3 NP_001004106.1|NP_002073.2 P43250 GRK6_HUMAN G protein-coupled receptor kinase 6 401 Protein kinase. regulation of G-protein coupled receptor protein signaling pathway membrane ATP binding|G-protein coupled receptor kinase activity|signal transducer activity p.K402delK(1) breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(5)|stomach(1) 25 all_cancers(89;1.15e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) AGCGGCTGGTGAAGGAGGTCCCC 0.645 8 455 --- --- --- --- BTN2A3P 0 broad.mit.edu 37 6 26422388 26422390 + RNA DEL CCT CCT - rs113134648 TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr6:26422388_26422390delCCT ENST00000466808.2 + 0 42_44 GGCCAGCCTCCCTCCTCCTCCTC 0.586 10 466 --- --- --- --- HLA-DRB6 0 broad.mit.edu 37 6 32522756 32522756 + RNA DEL A A - TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr6:32522756delA ENST00000411500.1 - 0 458 NR_001298.1 GGACTAGGAGAAAAAAAGGTA 0.517 8 122 --- --- --- --- KIAA1009 22832 broad.mit.edu 37 6 84896233 84896233 + Frame_Shift_Del DEL A A - TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr6:84896233delA ENST00000403245.3 - 12 1332 c.1218delT c.(1216-1218)ttfs p.F406fs KIAA1009_ENST00000461137.1_5'UTR|KIAA1009_ENST00000257766.4_Frame_Shift_Del_p.F330fs NM_014895.2 NP_055710.2 Q5TB80 QN1_HUMAN KIAA1009 406 cell division|mitosis centrosome|nucleus|plasma membrane|spindle protein binding breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 43 all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258) BRCA - Breast invasive adenocarcinoma(397;0.089) CATTTTTGTCAAAAAAAAGGT 0.358 7 511 --- --- --- --- RNGTT 8732 broad.mit.edu 37 6 89638988 89638988 + Splice_Site DEL T T - rs111616936 TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr6:89638988delT ENST00000369485.4 - 3 361 c.e3-2 RNGTT_ENST00000538899.1_Splice_Site|RNGTT_ENST00000265607.6_Splice_Site|RNGTT_ENST00000369475.3_Splice_Site NM_003800.3 NP_003791.3 O60942 MCE1_HUMAN RNA guanylyltransferase and 5'-phosphatase interspecies interaction between organisms|mRNA capping|transcription from RNA polymerase II promoter|viral reproduction nucleoplasm GTP binding|mRNA guanylyltransferase activity|polynucleotide 5'-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 21 all_cancers(76;4.07e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;6.86e-05) BRCA - Breast invasive adenocarcinoma(108;0.151) CATTTTAACCTAAAAAAAAAA 0.299 8 339 --- --- --- --- GABRR2 2570 broad.mit.edu 37 6 89975427 89975429 + In_Frame_Del DEL AAG AAG - TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr6:89975427_89975429delAAG ENST00000402938.3 - 7 925_927 c.792_794delCTT c.(790-795)ttg>tt p.FL264del GABRR2_ENST00000602399.1_In_Frame_Del_p.FL289del P28476 GBRR2_HUMAN gamma-aminobutyric acid (GABA) A receptor, rho 2 289 synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(10)|prostate(2)|urinary_tract(1) 21 all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238) BRCA - Breast invasive adenocarcinoma(108;0.0158) TGTTTGGAGCAAGAAGAAGAAGA 0.517 9 265 --- --- --- --- PHACTR2 9749 broad.mit.edu 37 6 144081695 144081696 + Frame_Shift_Ins INS - - A TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr6:144081695_144081696insA ENST00000427704.2 + 5 709_710 c.579_580insA c.(577-582)ataaaafs p.IK193fs PHACTR2_ENST00000367582.3_Intron|PHACTR2_ENST00000367584.4_Intron|PHACTR2_ENST00000440869.2_Frame_Shift_Ins_p.IK204fs|PHACTR2_ENST00000305766.6_Intron NM_001100166.1|NM_014721.2 NP_001093636.1|NP_055536.2 O75167 PHAR2_HUMAN phosphatase and actin regulator 2 193 actin binding|protein phosphatase inhibitor activity NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 30 OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386) TGCCTCCCATTAAAAAAAATAC 0.569 7 325 --- --- --- --- HOXA1 3198 broad.mit.edu 37 7 27135317 27135319 + In_Frame_Del DEL TGG TGG - rs2074398 byFrequency TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr7:27135317_27135319delTGG ENST00000343060.4 - 1 274_276 c.213_215delCCA c.(211-216)cat>ca p.HH71del HOTAIRM1_ENST00000495032.1_RNA|HOXA1_ENST00000355633.5_In_Frame_Del_p.HH71del NM_005522.4 NP_005513.1 P49639 HXA1_HUMAN homeobox A1 71 Poly-His. nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 ggggtggcgatggtggtggtggt 0.640 OREG0003750 type=REGULATORY REGION|Gene=BC031342|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 7 357 --- --- --- --- PPP1R17 10842 broad.mit.edu 37 7 31735179 31735179 + Frame_Shift_Del DEL A A - TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr7:31735179delA ENST00000342032.3 + 3 807 c.179delA c.(178-180)cafs p.Q60fs PPP1R17_ENST00000409146.3_Intron NM_006658.4 NP_006649.2 O96001 GSUB_HUMAN protein phosphatase 1, regulatory subunit 17 60 behavior|central nervous system development|intracellular protein kinase cascade|protein phosphorylation soluble fraction GAGTCAGACCAAAAAAAACCA 0.438 9 1096 --- --- --- --- TRGC1 0 broad.mit.edu 37 7 38301855 38301856 + RNA DEL GT GT - TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr7:38301855_38301856delGT ENST00000443402.2 - 0 330 NM_001003799.1|NM_001003806.1 NP_001003799.1|NP_001003806.1 TCAATTGTTCGTGTGTGTGTGT 0.356 12 851 --- --- --- --- INHBA 3624 broad.mit.edu 37 7 41729741 41729743 + In_Frame_Del DEL TTC TTC - TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr7:41729741_41729743delTTC ENST00000242208.4 - 3 1032_1034 c.786_788delGAA c.(784-789)aaa>aa p.KK262del AC005027.3_ENST00000416150.1_RNA|INHBA_ENST00000464515.1_5'UTR|INHBA_ENST00000442711.1_In_Frame_Del_p.KK262del NM_002192.2 NP_002183.1 P08476 INHBA_HUMAN inhibin, beta A 262 cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway activin A complex|inhibin A complex cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 ctcctcttctttcttcttcttct 0.581 TSP Lung(11;0.080) 10 285 --- --- --- --- CCT6P3 0 broad.mit.edu 37 7 64528813 64528814 + RNA INS - - T TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr7:64528813_64528814insT ENST00000426828.1 + 0 621 NR_033416.1 CTTTCTGTAACTTTTTTTTTTT 0.317 7 93 --- --- --- --- STAG3L4 0 broad.mit.edu 37 7 66767610 66767611 + RNA INS - - G rs71293166 by1000genomes TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr7:66767610_66767611insG ENST00000416602.2 + 0 3_4 NR_040586.1 Q8TBR4 STG34_HUMAN endometrium(2)|lung(5) 7 Lung NSC(55;0.0839)|all_lung(88;0.181) CACCGGACTGCTTTTTTTTTTT 0.545 7 14 --- --- --- --- GTF2IRD2P1 0 broad.mit.edu 37 7 72683455 72683456 + RNA INS - - T TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr7:72683455_72683456insT ENST00000425256.1 - 0 120 NR_002164.1 CGTTCTACCAgtttttttttgt 0.441 8 566 --- --- --- --- STX1A 6804 broad.mit.edu 37 7 73123425 73123427 + In_Frame_Del DEL CAT CAT - TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr7:73123425_73123427delCAT ENST00000222812.3 - 2 82_84 c.56_58delATG c.(55-60)gtc>g p.DV19del STX1A_ENST00000395156.3_In_Frame_Del_p.DV19del|STX1A_ENST00000395154.3_In_Frame_Del_p.DV19del|STX1A_ENST00000395155.3_In_Frame_Del_p.DV19del NM_004603.3 NP_004594.1 Q16623 STX1A_HUMAN syntaxin 1A (brain) 19 energy reserve metabolic process|glutamate secretion|intracellular protein transport|regulation of insulin secretion cell junction|extracellular region|integral to membrane|neuron projection|synaptic vesicle membrane|synaptosome SNAP receptor activity large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 5 Lung NSC(55;0.0908)|all_lung(88;0.198) GTGACAGCGACATCATCATCATC 0.586 8 850 --- --- --- --- AKAP9 10142 broad.mit.edu 37 7 91671392 91671393 + Frame_Shift_Del DEL AG AG - TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr7:91671392_91671393delAG ENST00000359028.2 + 20 5211_5212 c.4986_4987delAG c.(4984-4989)tcagfs p.SE1662fs AKAP9_ENST00000356239.3_Frame_Shift_Del_p.SE1650fs|AKAP9_ENST00000358100.2_Frame_Shift_Del_p.SE1662fs Q99996 AKAP9_HUMAN A kinase (PRKA) anchor protein 9 1662 G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2) 155 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) ACCTGGTTTCAGAGAGAGAGAG 0.411 T BRAF papillary thyroid 8 443 --- --- --- --- GPC2 221914 broad.mit.edu 37 7 99771554 99771554 + Frame_Shift_Del DEL C C - TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr7:99771554delC ENST00000292377.2 - 5 963 c.796delG c.(796-798)tcfs p.V266fs GPC2_ENST00000471050.1_5'UTR NM_152742.1 NP_689955.1 Q8N158 GPC2_HUMAN glypican 2 266 anchored to membrane|endoplasmic reticulum|extracellular space|plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(3) 18 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) AGTGAGGGGACCCCCCGGCAC 0.642 7 1363 --- --- --- --- MEPCE 56257 broad.mit.edu 37 7 100028823 100028825 + In_Frame_Del DEL CCA CCA - rs71555278 TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr7:100028823_100028825delCCA ENST00000310512.2 + 1 1570_1572 c.1182_1184delCCA c.(1180-1185)cgc>cg p.RH394del MEPCE_ENST00000414441.1_5'UTR NM_019606.5 NP_062552.2 Q7L2J0 MEPCE_HUMAN methylphosphate capping enzyme 394 methyltransferase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 24 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) GGGGAGGCCGCCACCACCACCAC 0.581 7 455 --- --- --- --- GIGYF1 64599 broad.mit.edu 37 7 100284335 100284337 + In_Frame_Del DEL CCT CCT - TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr7:100284335_100284337delCCT ENST00000275732.5 - 7 1838_1840 c.629_631delAGG c.(628-633)ggc>g p.EG210del GIGYF1_ENST00000471340.2_Intron NM_022574.4 NP_072096.2 O75420 PERQ1_HUMAN GRB10 interacting GYF protein 1 210 Poly-Glu. p.E210delE(1) central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 23 Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817) CTCCAGCTGCcctcctcctcctc 0.700 11 384 --- --- --- --- WASL 8976 broad.mit.edu 37 7 123332839 123332841 + In_Frame_Del DEL AGG AGG - TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr7:123332839_123332841delAGG ENST00000223023.4 - 9 1239_1241 c.907_909delCCT c.(907-909)del p.P303del NM_003941.2 NP_003932.3 O00401 WASL_HUMAN Wiskott-Aldrich syndrome-like 303 Pro-rich. actin polymerization or depolymerization|axon guidance|cellular component movement|nitric oxide metabolic process|protein complex assembly|regulation of nitric-oxide synthase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent actin cytoskeleton|cytosol|nucleolus|plasma membrane actin binding|small GTPase regulator activity p.P303A(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 TTCCCCTagcaggaggaggagga 0.616 7 439 --- --- --- --- OR9A4 130075 broad.mit.edu 37 7 141619203 141619203 + Frame_Shift_Del DEL T T - TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr7:141619203delT ENST00000548136.1 + 1 587 c.528delT c.(526-528)aafs p.N176fs MGAM_ENST00000497554.1_Intron NM_001001656.1 NP_001001656.1 Q8NGU2 OR9A4_HUMAN olfactory receptor, family 9, subfamily A, member 4 176 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2) 22 Melanoma(164;0.0171) TGGTGAACAATTTTTTTTGTG 0.383 8 1354 --- --- --- --- TRBV29-1 0 broad.mit.edu 37 7 142448200 142448207 + RNA DEL GGTGGAAA GGTGGAAA - rs149832120 by1000genomes TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr7:142448200_142448207delGGTGGAAA ENST00000422143.2 + 0 101 GTTAACACTGGGTGGAAAGGTGGAAAGA 0.457 15 40 --- --- --- --- PRSS3P2 0 broad.mit.edu 37 7 142481996 142481997 + RNA INS - - C TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr7:142481996_142481997insC ENST00000603901.1 + 0 591 NR_001296.3 TCCCAAGGTGGGGGGCTGAGGA 0.564 15 94 --- --- --- --- EPHB6 0 broad.mit.edu 37 7 142562309 142562309 + Frame_Shift_Del DEL G G - TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr7:142562309delG ENST00000392957.2 + 7 1538 c.751delG c.(751-753)ggfs p.G252fs EPHB6_ENST00000411471.2_Intron|EPHB6_ENST00000442129.1_Frame_Shift_Del_p.G252fs NM_004445.3 NP_004436.2 O15197 EPHB6_HUMAN EPH receptor B6 252 Cys-rich. extracellular region|integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 87 Melanoma(164;0.059) CAGTGGGGCTGGGGGGGCCTC 0.682 7 978 --- --- --- --- DLC1 10395 broad.mit.edu 37 8 12957611 12957613 + In_Frame_Del DEL GCT GCT - rs137989738 TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr8:12957611_12957613delGCT ENST00000276297.4 - 9 2642_2644 c.2233_2235delAGC c.(2233-2235)del p.S745del DLC1_ENST00000358919.2_In_Frame_Del_p.S308del|DLC1_ENST00000520226.1_In_Frame_Del_p.S234del|DLC1_ENST00000512044.2_In_Frame_Del_p.S342del NM_182643.2 NP_872584.2 Q96QB1 RHG07_HUMAN deleted in liver cancer 1 745 Poly-Ser. actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction caveola|cytosol|focal adhesion|nucleus Rho GTPase activator activity|SH2 domain binding NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 110 TCTCCGACTGGCTGCTGCTGCTG 0.621 8 217 --- --- --- --- SFTPC 6440 broad.mit.edu 37 8 22020159 22020161 + In_Frame_Del DEL GTG GTG - TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr8:22020159_22020161delGTG ENST00000521315.1 + 2 147_149 c.115_117delGTG c.(115-117)del p.V44del SFTPC_ENST00000318561.3_In_Frame_Del_p.V44del|SFTPC_ENST00000522109.1_In_Frame_Del_p.V44del|SFTPC_ENST00000520605.1_Intron|SFTPC_ENST00000437090.2_In_Frame_Del_p.V44del|SFTPC_ENST00000524255.1_Intron P11686 PSPC_HUMAN surfactant protein C 44 respiratory gaseous exchange extracellular space autonomic_ganglia(1)|large_intestine(1)|lung(1) 3 Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1) CCTTCTTATCGTGGTGGTGGTGG 0.601 8 444 --- --- --- --- KAT6A 7994 broad.mit.edu 37 8 41798420 41798422 + In_Frame_Del DEL CTC CTC - TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr8:41798420_41798422delCTC ENST00000396930.3 - 16 3520_3522 c.2977_2979delGAG c.(2977-2979)del p.E993del KAT6A_ENST00000406337.1_In_Frame_Del_p.E993del|KAT6A_ENST00000265713.2_In_Frame_Del_p.E993del NM_001099412.1 NP_001092882.1 Q92794 MYST3_HUMAN K(lysine) acetyltransferase 6A 993 Poly-Glu. histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding GGCTTTCCGGCTCCTCCTCCTCC 0.567 7 605 --- --- --- --- TAF1L 138474 broad.mit.edu 37 9 32633584 32633584 + Frame_Shift_Del DEL T T - TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr9:32633584delT ENST00000242310.4 - 1 2083 c.1994delA c.(1993-1995)agfs p.K665fs RP11-555J4.4_ENST00000430787.1_RNA NM_153809.2 NP_722516.1 Q8IZX4 TAF1L_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like 665 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding p.K665fs*4(2) breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 159 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) CATCTTGGCCTTTTTTTTGAT 0.478 13 856 --- --- --- --- KIF24 347240 broad.mit.edu 37 9 34257623 34257623 + Frame_Shift_Del DEL T T - TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr9:34257623delT ENST00000379166.2 - 11 2101 c.1982delA c.(1981-1983)agfs p.K661fs KIF24_ENST00000379174.3_Frame_Shift_Del_p.K527fs|KIF24_ENST00000402558.2_Frame_Shift_Del_p.K661fs|KIF24_ENST00000345050.2_Frame_Shift_Del_p.K527fs NM_194313.2 NP_919289.2 Q5T7B8 KIF24_HUMAN kinesin family member 24 661 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity p.K143fs*34(1)|p.K661fs*34(1) breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 32 LUSC - Lung squamous cell carcinoma(29;0.0107) CTCTTCTGGCTTTTTTTTGGC 0.527 11 525 --- --- --- --- RUSC2 9853 broad.mit.edu 37 9 35560102 35560104 + In_Frame_Del DEL GCT GCT - TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr9:35560102_35560104delGCT ENST00000455600.1 + 10 4034_4036 c.3465_3467delGCT c.(3463-3468)gag>ga p.EL1155del NM_001135999.1 NP_001129471.1 Q8N2Y8 RUSC2_HUMAN RUN and SH3 domain containing 2 1155 RUN. cytosol NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194) TCTTTGAAGAGCTGCTGCTGCTG 0.616 7 1124 --- --- --- --- HRCT1 646962 broad.mit.edu 37 9 35906348 35906350 + In_Frame_Del DEL CTG CTG - TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr9:35906348_35906350delCTG ENST00000354323.2 + 1 160_162 c.64_66delCTG c.(64-66)del p.L28del NM_001039792.1 NP_001034881.1 Q6UXD1 HRCT1_HUMAN histidine rich carboxyl terminus 1 28 integral to membrane NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1) 4 TGTGGCGGTCctgctgctgctgc 0.670 13 149 --- --- --- --- ZCCHC7 84186 broad.mit.edu 37 9 37357249 37357250 + Frame_Shift_Ins INS - - A rs1051465 TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr9:37357249_37357250insA ENST00000336755.5 + 9 1722_1723 c.1616_1617insA c.(1615-1617)aaafs p.K539fs ZCCHC7_ENST00000534928.1_Frame_Shift_Ins_p.K249fs|ZCCHC7_ENST00000461038.1_3'UTR NM_032226.2 NP_115602.2 Q8N3Z6 ZCHC7_HUMAN zinc finger, CCHC domain containing 7 539 R -> K (in dbSNP:rs1051465). nucleic acid binding|zinc ion binding central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 30 GBM - Glioblastoma multiforme(29;0.0137) ATTAAGCAGAGAAAAAAAAAGT 0.411 11 345 --- --- --- --- FAM74A3 0 broad.mit.edu 37 9 40715923 40715924 + RNA DEL AA AA - rs62565543 TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr9:40715923_40715924delAA ENST00000604146.1 + 0 262_263 NR_026801.1 endometrium(1)|large_intestine(2)|lung(6)|skin(1) 10 GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681) GAAGACGTGGAAAGAGCTCAGA 0.569 13 147 --- --- --- --- ANKRD20A1 84210 broad.mit.edu 37 9 67934791 67934794 + Frame_Shift_Del DEL AAAG AAAG - TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr9:67934791_67934794delAAAG ENST00000377477.2 + 4 673_676 c.561_564delAAAG c.(559-564)aafs p.KK187fs NM_032250.3 NP_115626.2 ankyrin repeat domain 20 family, member A1 kidney(1)|large_intestine(4)|lung(5)|urinary_tract(1) 11 TTTTATTGAAAAAGAAAGCAAGTT 0.309 9 34 --- --- --- --- ROR2 4920 broad.mit.edu 37 9 94486026 94486028 + In_Frame_Del DEL TCC TCC - TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr9:94486026_94486028delTCC ENST00000375708.3 - 9 2946_2948 c.2748_2750delGGA c.(2746-2751)gaa>ga p.EE916del ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Intron NM_004560.3 NP_004551.2 Q01974 ROR2_HUMAN receptor tyrosine kinase-like orphan receptor 2 916 negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 71 GACAGAGCCTTCCTCCTCCTCCT 0.645 10 787 --- --- --- --- XPA 7507 broad.mit.edu 37 9 100455962 100455964 + In_Frame_Del DEL TTC TTC - rs3176652 TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr9:100455962_100455964delTTC ENST00000375128.4 - 2 314_316 c.250_252delGAA c.(250-252)del p.E84del NM_000380.3 NP_000371.1 P23025 XPA_HUMAN xeroderma pigmentosum, complementation group A 84 Interaction with CEP164 and required for UV resistance.|Poly-Glu. nucleotide-excision repair, DNA damage removal nucleoplasm damaged DNA binding|metal ion binding|nucleotide binding|protein domain specific binding|protein homodimerization activity p.E84*(1) breast(1)|endometrium(4)|large_intestine(1)|lung(4)|prostate(1) 11 Acute lymphoblastic leukemia(62;0.158) CAATTTTCTGTTCTTCTTCTTCT 0.340 """Mis, N, F, S""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum 7 520 --- --- --- --- DAB2IP 153090 broad.mit.edu 37 9 124522389 124522391 + In_Frame_Del DEL AAG AAG - TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr9:124522389_124522391delAAG ENST00000408936.3 + 6 1023_1025 c.841_843delAAG c.(841-843)del p.K285del DAB2IP_ENST00000309989.1_In_Frame_Del_p.K161del|DAB2IP_ENST00000259371.2_In_Frame_Del_p.K257del Q5VWQ8 DAB2P_HUMAN DAB2 interacting protein 285 C2. activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter cytoplasm|intrinsic to internal side of plasma membrane 14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 27 GGAGACCGACAAGAAGAAGAAGA 0.601 9 470 --- --- --- --- INPP5E 56623 broad.mit.edu 37 9 139333504 139333508 + Frame_Shift_Del DEL GCCCC GCCCC - TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr9:139333504_139333508delGCCCC ENST00000371712.3 - 1 766_770 c.364_368delGGGGC c.(364-369)cfs p.GA122fs NM_019892.4 NP_063945.2 Q9NRR6 INP5E_HUMAN inositol polyphosphate-5-phosphatase, 72 kDa 122 13 X 4 AA repeats of P-X-X-P. cilium axoneme|cytoskeleton|Golgi cisterna membrane inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity NS(1)|endometrium(1)|lung(4)|skin(3) 9 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;8.36e-06)|Epithelial(140;1.4e-05) GTGGGCGGGGGCCCCGGGGCCCTCG 0.698 12 41 --- --- --- --- INA 9118 broad.mit.edu 37 10 105048271 105048273 + In_Frame_Del DEL GAG GAG - TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr10:105048271_105048273delGAG ENST00000369849.4 + 3 1394_1396 c.1345_1347delGAG c.(1345-1347)del p.E454del NM_032727.3 NP_116116.1 Q16352 AINX_HUMAN internexin neuronal intermediate filament protein, alpha 454 Poly-Glu.|Tail. cell differentiation|nervous system development neurofilament structural constituent of cytoskeleton p.E449_E450delEE(1) breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(2) 13 Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198) ACTTAAGAAAGAGGAGGAGGAGG 0.458 12 344 --- --- --- --- TSPAN4 0 broad.mit.edu 37 11 864443 864445 + In_Frame_Del DEL CTG CTG - rs61867552 byFrequency TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr11:864443_864445delCTG ENST00000397404.1 + 5 521_523 c.262_264delCTG c.(262-264)del p.L92del TSPAN4_ENST00000409531.1_In_Frame_Del_p.L111del|TSPAN4_ENST00000397406.1_In_Frame_Del_p.L92del|TSPAN4_ENST00000525201.1_In_Frame_Del_p.L28del|TSPAN4_ENST00000397408.1_In_Frame_Del_p.L92del|TSPAN4_ENST00000346501.4_In_Frame_Del_p.L92del|TSPAN4_ENST00000397411.2_In_Frame_Del_p.L92del|TSPAN4_ENST00000397397.2_In_Frame_Del_p.L92del|TSPAN4_ENST00000397396.1_In_Frame_Del_p.L28del|TSPAN4_ENST00000409543.2_In_Frame_Del_p.L92del NM_001025237.1 NP_001020408.1 O14817 TSN4_HUMAN tetraspanin 4 92 protein complex assembly integral to plasma membrane breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1) 3 all_cancers(49;2.64e-08)|all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24) all cancers(45;4.32e-25)|Epithelial(43;3.29e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) ACAGTTCTTCCTGCTGCTGCTGC 0.650 15 476 --- --- --- --- SPON1 10418 broad.mit.edu 37 11 14063263 14063263 + RNA DEL A A - rs113227652 TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr11:14063263delA ENST00000310358.7 + 0 1017 Q9HCB6 SPON1_HUMAN spondin 1, extracellular matrix protein cell adhesion extracellular space|proteinaceous extracellular matrix protein binding NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1) 21 Epithelial(150;0.00898) GATTGCAGGGAAAAAAAAAAA 0.423 9 72 --- --- --- --- MALAT1 0 broad.mit.edu 37 11 65269610 65269610 + RNA DEL G G - TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr11:65269610delG ENST00000534336.1 + 0 4378 NR_002819.2 TACTGTATCTGTTTTCCTTCA 0.418 116 22 --- --- --- --- CADM1 23705 broad.mit.edu 37 11 115080312 115080314 + In_Frame_Del DEL TGG TGG - TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr11:115080312_115080314delTGG ENST00000537058.1 - 8 1078_1080 c.1058_1060delCCA c.(1057-1062)atc>a p.TI353del CADM1_ENST00000331581.6_In_Frame_Del_p.TI353del|CADM1_ENST00000536727.1_Intron|CADM1_ENST00000537140.1_Intron|CADM1_ENST00000542447.2_Intron|CADM1_ENST00000452722.2_In_Frame_Del_p.TI353del Q9BY67 CADM1_HUMAN cell adhesion molecule 1 353 PPTTIPPPTTTTTTTTTTTTTILTIIT -> TTATTEPAVH GLTQLPNSAEELDSEDLS (in Ref. 3; BAC11657). adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity basolateral plasma membrane|cell-cell junction|integral to membrane PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1) 32 all_hematologic(175;0.0628) all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237) BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303) atggtaaggatggtggtggtggt 0.429 7 233 --- --- --- --- IFT46 56912 broad.mit.edu 37 11 118427645 118427647 + In_Frame_Del DEL TCA TCA - TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr11:118427645_118427647delTCA ENST00000264020.2 - 5 689_691 c.312_314delTGA c.(310-315)gaa>ga p.DE104del IFT46_ENST00000530872.1_In_Frame_Del_p.DE104del|IFT46_ENST00000264021.3_In_Frame_Del_p.DE53del NM_020153.3 NP_064538.3 Q9NQC8 IFT46_HUMAN intraflagellar transport 46 homolog (Chlamydomonas) 53 flagellum assembly|intraflagellar transport|protein stabilization microtubule basal body|microtubule-based flagellum|nucleus protein C-terminus binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4) 9 TCCATGCTCTTCATCATCATCAT 0.473 7 633 --- --- --- --- CHD4 1108 broad.mit.edu 37 12 6711207 6711209 + In_Frame_Del DEL CTT CTT - TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr12:6711207_6711209delCTT ENST00000309577.6 - 4 518_520 c.355_357delAAG c.(355-357)del p.K119del CHD4_ENST00000544484.1_In_Frame_Del_p.K116del|CHD4_ENST00000357008.2_In_Frame_Del_p.K119del|CHD4_ENST00000544040.1_In_Frame_Del_p.K112del Q14839 CHD4_HUMAN chromodomain helicase DNA binding protein 4 119 Poly-Lys. chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding p.K119delK(3) central_nervous_system(2) 2 TAGGTCCAAGCTTCTTCTTCTTC 0.537 11 219 --- --- --- --- PLCZ1 89869 broad.mit.edu 37 12 18841025 18841025 + Frame_Shift_Del DEL T T - TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr12:18841025delT ENST00000266505.7 - 13 1852 c.1589delA c.(1588-1590)atfs p.N530fs PLCZ1_ENST00000541695.1_Frame_Shift_Del_p.N393fs|PLCZ1_ENST00000539875.1_Frame_Shift_Del_p.N337fs|PLCZ1_ENST00000435379.1_Frame_Shift_Del_p.N335fs|PLCZ1_ENST00000538330.1_Frame_Shift_Del_p.N312fs|PLCZ1_ENST00000447925.2_Frame_Shift_Del_p.N528fs|PLCZ1_ENST00000534932.1_Frame_Shift_Del_p.N11fs Q86YW0 PLCZ1_HUMAN phospholipase C, zeta 1 530 C2. intracellular signal transduction|lipid catabolic process|multicellular organismal development nucleus|perinuclear region of cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 31 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241) GAGCTCACCATTTTTTTTAAT 0.294 7 509 --- --- --- --- SENP1 29843 broad.mit.edu 37 12 48458896 48458896 + Frame_Shift_Del DEL T T - TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr12:48458896delT ENST00000004980.5 - 12 1705 c.1227delA c.(1225-1227)aafs p.K409fs SENP1_ENST00000339976.6_3'UTR|SENP1_ENST00000549518.1_Frame_Shift_Del_p.K409fs|SENP1_ENST00000549595.1_Frame_Shift_Del_p.K409fs|SENP1_ENST00000551330.1_Frame_Shift_Del_p.K409fs|SENP1_ENST00000448372.1_Frame_Shift_Del_p.K409fs Q9P0U3 SENP1_HUMAN SUMO1/sentrin specific peptidase 1 409 activation of caspase activity|induction of apoptosis by extracellular signals|protein desumoylation|proteolysis cytoplasm|nucleus endopeptidase activity|SUMO-specific protease activity p.G410fs*3(1)|p.G410fs*4(1) large_intestine(3)|lung(1)|pancreas(2)|stomach(1) 7 Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214) ATTTATGACCTTTTTTTTGTG 0.338 7 364 --- --- --- --- DDN 23109 broad.mit.edu 37 12 49392358 49392359 + Frame_Shift_Ins INS - - C TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr12:49392358_49392359insC ENST00000421952.2 - 2 321_322 c.300_301insG c.(298-303)ggccctfs p.GP100fs RP11-386G11.5_ENST00000552284.1_RNA|RP11-386G11.5_ENST00000547866.1_RNA|RP11-386G11.5_ENST00000547395.1_RNA|RP11-386G11.5_ENST00000552933.1_RNA NM_015086.1 NP_055901.2 O94850 DEND_HUMAN dendrin 100 dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1) 8 TCGGCCAGGGGCCCCGCCCGCC 0.723 7 188 --- --- --- --- OR6C75 390323 broad.mit.edu 37 12 55759192 55759192 + Frame_Shift_Del DEL T T - rs75456529 TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr12:55759192delT ENST00000343399.3 + 1 298 c.298delT c.(298-300)ttfs p.F102fs NM_001005497.1 NP_001005497.1 A6NL08 O6C75_HUMAN olfactory receptor, family 6, subfamily C, member 75 102 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2) 25 GGCTCAGCTATTTTTTTTCAT 0.438 8 1105 --- --- --- --- TMEM19 55266 broad.mit.edu 37 12 72094757 72094757 + Frame_Shift_Del DEL T T - TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr12:72094757delT ENST00000266673.5 + 6 1587 c.993delT c.(991-993)ggfs p.G331fs NM_018279.3 NP_060749.2 Q96HH6 TMM19_HUMAN transmembrane protein 19 331 integral to membrane large_intestine(1)|lung(8) 9 Breast(359;0.0889) GBM - Glioblastoma multiforme(134;0.044) CTGCTTGGGGTTTTTGGCCCA 0.433 9 1423 --- --- --- --- PLXNC1 10154 broad.mit.edu 37 12 94658979 94658980 + Frame_Shift_Ins INS - - G TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr12:94658979_94658980insG ENST00000258526.4 + 21 3824_3825 c.3575_3576insG c.(3574-3576)cgtfs p.R1192fs PLXNC1_ENST00000545312.1_5'UTR|PLXNC1_ENST00000547057.1_Frame_Shift_Ins_p.R239fs NM_005761.2 NP_005752.1 O60486 PLXC1_HUMAN plexin C1 1192 axon guidance|cell adhesion integral to membrane|intracellular|plasma membrane receptor activity|receptor binding breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 CTGTTGTGGCAGGTTCCGGAAT 0.465 9 1840 --- --- --- --- C12orf42 374470 broad.mit.edu 37 12 103695960 103695960 + Frame_Shift_Del DEL G G - TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr12:103695960delG ENST00000548048.1 - 9 1304 c.808delC c.(808-810)gcfs p.R270fs C12orf42_ENST00000378113.2_Frame_Shift_Del_p.R337fs|C12orf42_ENST00000315192.8_Intron|C12orf42_ENST00000548883.1_Frame_Shift_Del_p.R337fs Q96LP6 CL042_HUMAN chromosome 12 open reading frame 42 337 NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1) 22 CGGGTTGGGCGGGGGGGTGCT 0.587 8 741 --- --- --- --- SBNO1 55206 broad.mit.edu 37 12 123794283 123794283 + Frame_Shift_Del DEL T T - TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr12:123794283delT ENST00000420886.2 - 25 3415 c.3416delA c.(3415-3417)atfs p.N1139fs SBNO1_ENST00000267176.4_Frame_Shift_Del_p.N1138fs|SBNO1_ENST00000602398.1_Frame_Shift_Del_p.N1139fs|SBNO1_ENST00000602750.1_Frame_Shift_Del_p.N1138fs NM_001167856.1 NP_001161328.1 A3KN83 SBNO1_HUMAN strawberry notch homolog 1 (Drosophila) 1139 ATP binding|DNA binding|hydrolase activity p.N1138fs*9(1) NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2) 62 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197) ATATCTTCCATTTTTTTTGGC 0.388 13 1011 --- --- --- --- DDX55 57696 broad.mit.edu 37 12 124103201 124103202 + Translation_Start_Site DEL TG TG - TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr12:124103201_124103202delTG ENST00000421670.3 + 0 639_640 DDX55_ENST00000541259.1_Intron|DDX55_ENST00000238146.4_Intron|DDX55_ENST00000538744.1_Intron Q8NHQ9 DDX55_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 55 ATP binding|ATP-dependent helicase activity|RNA binding autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1) 14 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772) GAATGTGGTATGTGTGTGTGTG 0.520 OREG0022230 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 14 336 --- --- --- --- NCOR2 9612 broad.mit.edu 37 12 124848228 124848228 + Frame_Shift_Del DEL G G - rs12321697 TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr12:124848228delG ENST00000356219.3 - 22 3080 c.2925delC c.(2923-2925)ccfs p.P975fs NCOR2_ENST00000397355.1_Frame_Shift_Del_p.P958fs|NCOR2_ENST00000404121.2_Frame_Shift_Del_p.P528fs|NCOR2_ENST00000404621.1_Frame_Shift_Del_p.P957fs|NCOR2_ENST00000429285.2_Frame_Shift_Del_p.P957fs|NCOR2_ENST00000405201.1_Frame_Shift_Del_p.P975fs NM_006312.5 NP_006303.4 Q9Y618 NCOR2_HUMAN nuclear receptor corepressor 2 975 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) CACTCACGATGGGGGGGATGG 0.652 8 1075 --- --- --- --- POLE 5426 broad.mit.edu 37 12 133220099 133220100 + Frame_Shift_Del DEL CA CA - TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr12:133220099_133220100delCA ENST00000320574.5 - 34 4380_4381 c.4337_4338delTG c.(4336-4338)gfs p.V1447fs POLE_ENST00000535270.1_Frame_Shift_Del_p.V1420fs NM_006231.2 NP_006222.2 Q07864 DPOE1_HUMAN polymerase (DNA directed), epsilon, catalytic subunit 1447 base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|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 nucleoplasm chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 89 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0416) OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05) GTTTATTGACCACACACACACA 0.604 DNA polymerases (catalytic subunits) 32 1608 --- --- --- --- HSPH1 10808 broad.mit.edu 37 13 31715381 31715382 + Frame_Shift_Ins INS - - T TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr13:31715381_31715382insT ENST00000320027.5 - 13 2075_2076 c.1731_1732insA c.(1729-1734)aattgafs p.N*577fs HSPH1_ENST00000445273.2_Frame_Shift_Ins_p.N*579fs|HSPH1_ENST00000380405.4_Frame_Shift_Ins_p.N*533fs|HSPH1_ENST00000429785.2_Frame_Shift_Ins_p.N*396fs|HSPH1_ENST00000380406.5_Frame_Shift_Ins_p.N*536fs NM_006644.2 NP_006635.2 Q92598 HS105_HUMAN heat shock 105kDa/110kDa protein 1 577 positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein cytoplasm|extracellular region ATP binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 27 Lung SC(185;0.0257) all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125) GGCTGGTCAACTTTTTTTTCAT 0.376 8 647 --- --- --- --- ELF1 1997 broad.mit.edu 37 13 41532986 41532988 + In_Frame_Del DEL TCA TCA - TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr13:41532986_41532988delTCA ENST00000239882.3 - 3 551_553 c.237_239delTGA c.(235-240)gac>ga p.DD79del ELF1_ENST00000498824.1_5'UTR|ELF1_ENST00000442101.1_In_Frame_Del_p.DD79del NM_172373.3 NP_758961.1 P32519 ELF1_HUMAN E74-like factor 1 (ets domain transcription factor) 79 Poly-Asp. positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 37 Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367) all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072) AAGGGTGATGTCATCATCATCAT 0.483 7 647 --- --- --- --- SLITRK5 26050 broad.mit.edu 37 13 88329794 88329796 + In_Frame_Del DEL CGG CGG - TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr13:88329794_88329796delCGG ENST00000325089.6 + 2 2370_2372 c.2151_2153delCGG c.(2149-2154)tac>ta p.YG717del SLITRK5_ENST00000400028.3_In_Frame_Del_p.YG476del NM_015567.1 NP_056382.1 O94991 SLIK5_HUMAN SLIT and NTRK-like family, member 5 717 integral to membrane breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4) 81 all_neural(89;0.101)|Medulloblastoma(90;0.163) ACAGCGTGTACGGCGGCGGCGGC 0.645 8 515 --- --- --- --- ABCC4 10257 broad.mit.edu 37 13 95696016 95696016 + Frame_Shift_Del DEL T T - TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr13:95696016delT ENST00000376887.4 - 29 3769 c.3655delA c.(3655-3657)tcfs p.I1219fs ABCC4_ENST00000412704.1_Frame_Shift_Del_p.I1172fs NM_005845.3 NP_005836.2 O15439 MRP4_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 4 1219 ABC transporter 2. platelet activation|platelet degranulation integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane 15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 43 all_neural(89;0.0878)|Medulloblastoma(90;0.163) Cefazolin(DB01327) TTCTCCCGGATTTTTTTTTGT 0.378 8 564 --- --- --- --- IL25 0 broad.mit.edu 37 14 23845057 23845058 + Frame_Shift_Del DEL TG TG - TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr14:23845057_23845058delTG ENST00000329715.2 + 2 760_761 c.502_503delTG c.(502-504)tfs p.C168fs IL25_ENST00000397242.2_Frame_Shift_Del_p.C152fs NM_022789.3 NP_073626.1 Q9H293 IL25_HUMAN interleukin 25 168 inflammatory response extracellular space|membrane cytokine activity|interleukin-17E receptor binding NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1) 9 all_cancers(95;2e-05) GBM - Glioblastoma multiforme(265;0.00665)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0396) TTCCTTAGCTTGTGTGTGTGTG 0.604 14 905 --- --- --- --- MGAT2 4247 broad.mit.edu 37 14 50088327 50088327 + Frame_Shift_Del DEL C C - TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr14:50088327delC ENST00000305386.2 + 1 839 c.341delC c.(340-342)gcfs p.A114fs RP11-649E7.5_ENST00000555043.1_RNA NM_002408.3 NP_002399.1 Q10469 MGAT2_HUMAN mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase 114 oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|Golgi stack|integral to membrane|membrane fraction alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity cervix(1)|endometrium(3)|large_intestine(1)|lung(6) 11 all_epithelial(31;0.0021)|Breast(41;0.0124) GGCACCTGGGCCCCCCGGGAG 0.602 7 1182 --- --- --- --- HSP90AA1 3320 broad.mit.edu 37 14 102551161 102551163 + In_Frame_Del DEL TCT TCT - rs55793809 byFrequency TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr14:102551161_102551163delTCT ENST00000334701.7 - 6 1483_1485 c.1202_1204delAGA c.(1201-1206)att>a p.KI401del HSP90AA1_ENST00000441629.2_In_Frame_Del_p.KI100del|HSP90AA1_ENST00000216281.8_In_Frame_Del_p.KI279del NM_001017963.2 NP_001017963.2 P07900 HS90A_HUMAN heat shock protein 90kDa alpha (cytosolic), class A member 1 279 axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction cytosol|melanosome|plasma membrane ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1) 28 Rifabutin(DB00615) ttttccttaatcttcttcttctt 0.389 7 340 --- --- --- --- ZNF106 64397 broad.mit.edu 37 15 42742957 42742957 + Frame_Shift_Del DEL A A - TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr15:42742957delA ENST00000263805.4 - 2 1770 c.1444delT c.(1444-1446)ccfs p.S482fs ZNF106_ENST00000565380.1_Intron|ZNF106_ENST00000565611.1_Intron NM_022473.1 NP_071918.1 zinc finger protein 106 TCTCCAGGGGAAAAAAAATTT 0.393 7 817 --- --- --- --- HMGN2P46 0 broad.mit.edu 37 15 45848231 45848231 + RNA DEL T T - TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr15:45848231delT ENST00000409454.1 + 0 1226 TTTGTTTAGCTTTTTTTTTTT 0.323 15 59 --- --- --- --- ZNF609 23060 broad.mit.edu 37 15 64967246 64967247 + Frame_Shift_Ins INS - - A TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr15:64967246_64967247insA ENST00000326648.3 + 4 2321_2322 c.2193_2194insA c.(2191-2196)gaaaaafs p.EK731fs NM_015042.1 NP_055857.1 O15014 ZN609_HUMAN zinc finger protein 609 731 Poly-Lys. nucleus zinc ion binding p.K734fs*12(1) breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 AAAAGAAAGACAAAAAAAAGAA 0.490 7 638 --- --- --- --- PIAS1 8554 broad.mit.edu 37 15 68379085 68379089 + Splice_Site DEL CTAGG CTAGG - TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr15:68379085_68379089delCTAGG ENST00000545237.1 + 3 1213_1216 c.475_splice c.e3+1 p.158_splice PIAS1_ENST00000249636.6_Splice_Site_p.156_splice O75925 PIAS1_HUMAN protein inhibitor of activated STAT, 1 156 PINIT. androgen receptor signaling pathway|interferon-gamma-mediated signaling pathway|JAK-STAT cascade|positive regulation of protein sumoylation|positive regulation of transcription, DNA-dependent|regulation of interferon-gamma-mediated signaling pathway|transcription, DNA-dependent nuclear speck androgen receptor binding|DNA binding|enzyme binding|SUMO ligase activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding breast(2)|endometrium(5)|kidney(3)|large_intestine(5)|lung(8)|ovary(1) 24 ACCCACCAGTCTAGGTAAGATTATT 0.327 62 23 --- --- --- --- CSPG4P5 0 broad.mit.edu 37 15 84958415 84958426 + RNA DEL CGAGGACATTGG CGAGGACATTGG - TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr15:84958415_84958426delCGAGGACATTGG ENST00000558801.1 - 0 6303_6314 TCGGGCACCACGAGGACATTGGTGAGGACAGG 0.557 3 4 --- --- --- --- KNOP1 400506 broad.mit.edu 37 16 19722724 19722724 + Frame_Shift_Del DEL T T - TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr16:19722724delT ENST00000219837.7 - 3 1035 c.957delA c.(955-957)aafs p.K319fs AC002550.5_ENST00000565916.1_RNA|KNOP1_ENST00000568230.1_5'UTR NM_001012991.2 NP_001013009.2 lysine-rich nucleolar protein 1 p.G320fs*5(1)|p.K319N(1) CCATGTTGCCTTTTTTTTCCA 0.562 8 303 --- --- --- --- IRX6 79190 broad.mit.edu 37 16 55362674 55362676 + In_Frame_Del DEL GAG GAG - TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr16:55362674_55362676delGAG ENST00000290552.7 + 5 2116_2118 c.784_786delGAG c.(784-786)del p.E268del RP11-26L20.3_ENST00000558730.2_RNA NM_024335.2 NP_077311.2 P78412 IRX6_HUMAN iroquois homeobox 6 268 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 33 CCTggaggaagaggaggaggagg 0.626 11 270 --- --- --- --- NOB1 28987 broad.mit.edu 37 16 69782978 69782980 + In_Frame_Del DEL TCC TCC - TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr16:69782978_69782980delTCC ENST00000268802.5 - 6 596_598 c.567_569delGGA c.(565-570)gaa>ga p.EE189del NM_014062.1 NP_054781.1 Q9ULX3 NOB1_HUMAN NIN1/RPN12 binding protein 1 homolog (S. cerevisiae) 189 Poly-Glu. nucleus metal ion binding|protein binding breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 CCCGTTTTCTTCCTCCTCCTCCT 0.522 10 279 --- --- --- --- ADAMTS18 170692 broad.mit.edu 37 16 77356311 77356311 + Frame_Shift_Del DEL A A - TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr16:77356311delA ENST00000282849.5 - 14 2503 c.2085delT c.(2083-2085)ttfs p.F695fs NM_199355.2 NP_955387.1 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 18 695 Cys-rich. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.A696fs*18(2) NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 118 CGGACATTGCAAAAAAAAATT 0.403 8 385 --- --- --- --- SPIRE2 84501 broad.mit.edu 37 16 89916879 89916880 + In_Frame_Ins INS - - GAG rs146569219 by1000genomes TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr16:89916879_89916880insGAG ENST00000378247.3 + 3 499_500 c.456_457insGAG c.(454-459)ccagga>ccGAGagga p.152_153PG>PRG SPIRE2_ENST00000564878.1_3'UTR|SPIRE2_ENST00000393062.2_In_Frame_Ins_p.152_153PG>PRG NM_032451.1 NP_115827.1 Q8WWL2 SPIR2_HUMAN spire-type actin nucleation factor 2 152 KIND. transport cytoplasm|cytoskeleton actin binding central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.0286) ACGGGGGTCCCGAGGAGGAGGA 0.728 26 15 --- --- --- --- NDEL1 81565 broad.mit.edu 37 17 8370271 8370273 + In_Frame_Del DEL CTC CTC - TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr17:8370271_8370273delCTC ENST00000334527.7 + 9 1165_1167 c.968_970delCTC c.(967-972)gct>g p.AP323del NDEL1_ENST00000585098.1_Intron|NDEL1_ENST00000402554.3_3'UTR|NDEL1_ENST00000380025.4_3'UTR|NDEL1_ENST00000299734.7_Intron NM_030808.4 NP_110435.1 Q9GZM8 NDEL1_HUMAN nudE neurodevelopment protein 1-like 1 323 Interaction with CENPF.|Interaction with NEFL (By similarity). chromosome segregation|mitotic prometaphase condensed chromosome kinetochore|cytosol|microtubule|spindle large_intestine(6)|lung(4)|skin(3) 13 TTTGACCCCGCTCCTCCTCCTCC 0.576 9 772 --- --- --- --- MYH10 4628 broad.mit.edu 37 17 8415820 8415822 + In_Frame_Del DEL TTC TTC - TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr17:8415820_8415822delTTC ENST00000360416.3 - 24 3037_3039 c.2899_2901delGAA c.(2899-2901)del p.E967del MYH10_ENST00000396239.1_In_Frame_Del_p.E957del|MYH10_ENST00000269243.4_In_Frame_Del_p.E936del|MYH10_ENST00000379980.4_In_Frame_Del_p.E952del NM_001256012.1 NP_001242941.1 P35580 MYH10_HUMAN myosin, heavy chain 10, non-muscle 936 actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape cell cortex|cleavage furrow|midbody|myosin complex|stress fiber actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1) 52 TTTGGTTTCTTTCTTCTTCTTCT 0.350 7 598 --- --- --- --- WDR16 146845 broad.mit.edu 37 17 9503387 9503389 + In_Frame_Del DEL GAT GAT - TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr17:9503387_9503389delGAT ENST00000352665.5 + 6 709_711 c.640_642delGAT c.(640-642)del p.D217del WDR16_ENST00000396219.3_In_Frame_Del_p.D149del|WDR16_ENST00000299764.5_In_Frame_Del_p.D227del NM_145054.4 NP_659491.4 Q8N1V2 WDR16_HUMAN WD repeat domain 16 217 cytoplasm|intracellular membrane-bounded organelle protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 31 TCTTCAGGTGGATGATGATGATA 0.502 8 808 --- --- --- --- MYO15A 51168 broad.mit.edu 37 17 18023292 18023293 + Frame_Shift_Ins INS - - C TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr17:18023292_18023293insC ENST00000205890.5 + 2 1516_1517 c.1178_1179insC c.(1177-1179)tccfs p.S393fs NM_016239.3 NP_057323.3 Q9UKN7 MYO15_HUMAN myosin XVA 393 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) GAGGCCATCTACCCCCCCGAGG 0.619 11 872 --- --- --- --- SMCR7 0 broad.mit.edu 37 17 18167778 18167780 + In_Frame_Del DEL GCT GCT - TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr17:18167778_18167780delGCT ENST00000323019.4 + 4 1276_1278 c.1065_1067delGCT c.(1063-1068)cgg>cg p.RL355del SMCR7_ENST00000395706.2_In_Frame_Del_p.RL366del|SMCR7_ENST00000395704.4_3'UTR NM_001144900.1|NM_139162.3 NP_001138372.1|NP_631901.2 Q96C03 SMCR7_HUMAN 355 integral to membrane protein binding p.L356R(1) breast(1)|central_nervous_system(1)|endometrium(3)|lung(4) 9 all_neural(463;0.228) CTCGCCGGCGGCTGCTGCTGCTG 0.685 9 515 --- --- --- --- NSRP1 84081 broad.mit.edu 37 17 28505166 28505167 + Frame_Shift_Ins INS - - A rs143842750 byFrequency TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr17:28505166_28505167insA ENST00000247026.5 + 4 312_313 c.249_250insA c.(247-252)caaaaafs p.QK83fs NSRP1_ENST00000540900.3_3'UTR NM_001261467.1|NM_032141.3 NP_001248396.1|NP_115517.1 Q9H0G5 NSRP1_HUMAN nuclear speckle splicing regulatory protein 1 83 developmental process|nucleocytoplasmic transport|regulation of alternative nuclear mRNA splicing, via spliceosome nuclear speck|ribonucleoprotein complex mRNA binding|protein binding autonomic_ganglia(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1) 14 ATGAAATGCAGAAAAAAAAGGA 0.332 7 534 --- --- --- --- PLCD3 113026 broad.mit.edu 37 17 43192760 43192762 + In_Frame_Del DEL TCC TCC - TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr17:43192760_43192762delTCC ENST00000322765.5 - 9 1622_1624 c.1509_1511delGGA c.(1507-1512)gat>ga p.ED503del PLCD3_ENST00000540511.1_5'UTR NM_133373.3 NP_588614.1 Q8N3E9 PLCD3_HUMAN phospholipase C, delta 3 503 intracellular signal transduction|lipid catabolic process cleavage furrow|cytoplasm|membrane calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity p.E503D(2) breast(2)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2) 17 Phosphatidylserine(DB00144) ctcctcgtcatcctcctcctcct 0.670 8 145 --- --- --- --- COIL 8161 broad.mit.edu 37 17 55028016 55028016 + Frame_Shift_Del DEL T T - TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr17:55028016delT ENST00000240316.4 - 2 621 c.587delA c.(586-588)agfs p.K196fs NM_004645.2 NP_004636.1 P38432 COIL_HUMAN coilin 196 Lys-rich (basic). Cajal body|nucleolus protein C-terminus binding NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1) 15 Breast(9;6.15e-08) ATTCTTAGCCTTTTTTTTATA 0.393 8 726 --- --- --- --- LGALS3BP 3959 broad.mit.edu 37 17 76967722 76967723 + Frame_Shift_Ins INS - - G TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr17:76967722_76967723insG ENST00000262776.3 - 6 2001_2002 c.1693_1694insC c.(1693-1695)cttfs p.L565fs LGALS3BP_ENST00000591778.1_3'UTR NM_005567.3 NP_005558.1 Q08380 LG3BP_HUMAN lectin, galactoside-binding, soluble, 3 binding protein 565 cell adhesion|cellular defense response extracellular space|membrane|proteinaceous extracellular matrix protein binding|scavenger receptor activity NS(1)|breast(1)|central_nervous_system(5)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 17 BRCA - Breast invasive adenocarcinoma(99;0.0677)|OV - Ovarian serous cystadenocarcinoma(97;0.139) GCCGTTGAAGTGCCCTGCCGGG 0.634 OREG0024787 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 291 --- --- --- --- CXXC1 30827 broad.mit.edu 37 18 47812275 47812277 + In_Frame_Del DEL CTG CTG - TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr18:47812275_47812277delCTG ENST00000285106.6 - 5 1195_1197 c.481_483delCAG c.(481-483)del p.Q161del CXXC1_ENST00000589940.1_In_Frame_Del_p.Q161del|CXXC1_ENST00000412036.2_In_Frame_Del_p.Q161del NM_001101654.1|NM_014593.3 NP_001095124.1|NP_055408.2 Q9P0U4 CXXC1_HUMAN CXXC finger protein 1 161 histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck|Set1C/COMPASS complex protein binding|unmethylated CpG binding|zinc ion binding autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 24 ACCGTTTGATctgctgctgctgc 0.557 8 251 --- --- --- --- CATSPERD 257062 broad.mit.edu 37 19 5744474 5744474 + Frame_Shift_Del DEL T T - TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr19:5744474delT ENST00000381624.3 + 8 671 c.610delT c.(610-612)ttfs p.F205fs CATSPERD_ENST00000381614.2_5'UTR NM_152784.3 NP_689997.3 Q86XM0 TM146_HUMAN catsper channel auxiliary subunit delta 205 integral to membrane AATCTTCCACTTTTTTTCTTT 0.413 7 1075 --- --- --- --- PDE4A 5141 broad.mit.edu 37 19 10578143 10578144 + Frame_Shift_Ins INS - - C TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr19:10578143_10578144insC ENST00000380702.2 + 16 2441_2442 c.2441_2442insC c.(2440-2442)cccfs p.P814fs PDE4A_ENST00000440014.2_Frame_Shift_Ins_p.P775fs|PDE4A_ENST00000352831.6_Frame_Shift_Ins_p.P836fs|PDE4A_ENST00000592685.1_Frame_Shift_Ins_p.P814fs|PDE4A_ENST00000344979.3_Frame_Shift_Ins_p.P597fs|PDE4A_ENST00000293683.5_Frame_Shift_Ins_p.P810fs P27815 PDE4A_HUMAN phosphodiesterase 4A, cAMP-specific 836 signal transduction cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 27 OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06) Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277) GCCCCGGGCCTCCCGGGCCTCC 0.663 7 1139 --- --- --- --- FFAR2 2867 broad.mit.edu 37 19 35940788 35940790 + In_Frame_Del DEL CTG CTG - TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr19:35940788_35940790delCTG ENST00000599180.1 + 2 252_254 c.172_174delCTG c.(172-174)del p.L62del FFAR2_ENST00000246549.2_In_Frame_Del_p.L62del|FFAR2_ENST00000601590.1_Intron O15552 FFAR2_HUMAN free fatty acid receptor 2 62 integral to plasma membrane G-protein coupled receptor activity|lipid binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1) 22 all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) CGACCTCCTCCTGCTGCTGCTGC 0.645 9 298 --- --- --- --- ATP4A 495 broad.mit.edu 37 19 36054349 36054351 + In_Frame_Del DEL CTT CTT - TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr19:36054349_36054351delCTT ENST00000262623.3 - 2 119_121 c.91_93delAAG c.(91-93)del p.K31del NM_000704.2 NP_000695.2 P20648 ATP4A_HUMAN ATPase, H+/K+ exchanging, alpha polypeptide 31 ATP biosynthetic process|ATP hydrolysis coupled proton transport integral to plasma membrane ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 53 all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831) CGCCACCCGCCTTCTTCTTCTTG 0.601 7 1743 --- --- --- --- C19orf55 148137 broad.mit.edu 37 19 36255947 36255949 + In_Frame_Del DEL CTC CTC - TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr19:36255947_36255949delCTC ENST00000544099.1 + 7 702_704 c.639_641delCTC c.(637-642)atc>at p.IS213del C19orf55_ENST00000396908.4_In_Frame_Del_p.IS213del Q2NL68 CS055_HUMAN chromosome 19 open reading frame 55 213 Ser-rich. cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1) 15 all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) AAGCCTCCATCTCCTCCTCCTCC 0.631 14 1820 --- --- --- --- CD93 22918 broad.mit.edu 37 20 23065887 23065887 + Frame_Shift_Del DEL C C - TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr20:23065887delC ENST00000246006.4 - 1 1090 c.943delG c.(943-945)ccfs p.A315fs NM_012072.3 NP_036204.2 Q9NPY3 C1QR1_HUMAN CD93 molecule 315 EGF-like 2. cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis plasma membrane calcium ion binding|complement component C1q binding|receptor activity|sugar binding NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118) ACGCACGTGGCCCCCCCACGA 0.637 7 517 --- --- --- --- NCOA6 23054 broad.mit.edu 37 20 33330968 33330970 + In_Frame_Del DEL TGC TGC - rs140426729 byFrequency TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr20:33330968_33330970delTGC ENST00000374796.2 - 12 5660_5662 c.3090_3092delGCA c.(3088-3093)caa>ca p.QQ1030del NCOA6_ENST00000359003.2_In_Frame_Del_p.QQ1030del Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 1030 CREBBP-binding region.|Gln-rich.|NCOA1-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 CATCATTtgttgctgctgctgct 0.576 11 672 --- --- --- --- SYCP2 10388 broad.mit.edu 37 20 58452518 58452519 + Frame_Shift_Ins INS - - T TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr20:58452518_58452519insT ENST00000357552.3 - 33 3296_3297 c.3071_3072insA c.(3070-3072)atafs p.I1024fs SYCP2_ENST00000371001.2_Frame_Shift_Ins_p.I1024fs Q9BX26 SYCP2_HUMAN synaptonemal complex protein 2 1024 cell division|meiotic prophase I|synaptonemal complex assembly DNA binding NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 all_lung(29;0.00344) BRCA - Breast invasive adenocarcinoma(7;1.19e-09) GATCTTTATAGTTTTTTTTTGT 0.327 10 566 --- --- --- --- CBR3-AS1 0 broad.mit.edu 37 21 37518893 37518894 + RNA INS - - T rs113213749 TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr21:37518893_37518894insT ENST00000413862.1 - 0 79 CBR3-AS1_ENST00000427491.1_RNA|CBR3-AS1_ENST00000453159.1_RNA NR_038892.1 tatttctgttcttttttttttt 0.450 8 57 --- --- --- --- TPTEP1 0 broad.mit.edu 37 22 17127506 17127507 + RNA INS - - A TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr22:17127506_17127507insA ENST00000426585.1 + 0 442 AGGGCCTAGAGAAAAAAAAAAT 0.421 8 200 --- --- --- --- TRIOBP 11078 broad.mit.edu 37 22 38120323 38120325 + In_Frame_Del DEL CCT CCT - TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr22:38120323_38120325delCCT ENST00000406386.3 + 7 2015_2017 c.1760_1762delCCT c.(1759-1764)gcc>g p.AS587del RP1-37E16.12_ENST00000455236.1_RNA NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 587 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) AATCCCAGAGCCTCCTCTCCCAA 0.596 15 920 --- --- --- --- CYP2D7P1 0 broad.mit.edu 37 22 42537119 42537120 + RNA INS - - A rs142656198 by1000genomes TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chr22:42537119_42537120insA ENST00000435101.1 - 0 296 CYP2D7P1_ENST00000358097.4_RNA|CYP2D7P1_ENST00000433992.1_RNA endometrium(1) 1 GGGCTACCACCGGGGCTGATGC 0.614 4 5 --- --- --- --- XIST 0 broad.mit.edu 37 X 73071762 73071762 + RNA DEL A A - TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chrX:73071762delA ENST00000429829.1 - 0 826 NR_001564.2 GATCAGCAGCAAAAAAAAGTG 0.413 8 421 --- --- --- --- ATRX 546 broad.mit.edu 37 X 76778853 76778879 + Splice_Site DEL CTGAAGGAGCTCTGCAAGTATGGTATC CTGAAGGAGCTCTGCAAGTATGGTATC - TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chrX:76778853_76778879delCTGAAGGAGCTCTGCAAGTATGGTATC ENST00000373344.5 - 31 6914_6940 c.6699_splice c.e31-1 p.DTILAELLQ2234_splice ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Splice_Site_p.DTILAELLQ2196_splice NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 2234 DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding p.D2234G(1) bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) CTTTATGTATCTGAAGGAGCTCTGCAAGTATGGTATCCTGTTTAGAG 0.379 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 127 234 --- --- --- --- BHLHB9 80823 broad.mit.edu 37 X 102004419 102004421 + In_Frame_Del DEL GAG GAG - TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chrX:102004419_102004421delGAG ENST00000372735.1 + 4 1081_1083 c.496_498delGAG c.(496-498)del p.E171del BHLHB9_ENST00000448867.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000457056.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000361229.4_In_Frame_Del_p.E171del|BHLHB9_ENST00000447531.1_In_Frame_Del_p.E171del Q6PI77 BHLH9_HUMAN basic helix-loop-helix domain containing, class B, 9 171 Poly-Glu. cytoplasm|nucleus binding cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 GTCAGGGGCTGAGGAGGAGGAGG 0.488 17 768 --- --- --- --- PAK3 5063 broad.mit.edu 37 X 110406206 110406208 + In_Frame_Del DEL GAA GAA - TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chrX:110406206_110406208delGAA ENST00000519681.1 + 10 1037_1039 c.595_597delGAA c.(595-597)del p.E203del PAK3_ENST00000518291.1_In_Frame_Del_p.E218del|PAK3_ENST00000446737.1_In_Frame_Del_p.E182del|PAK3_ENST00000425146.1_In_Frame_Del_p.E182del|PAK3_ENST00000360648.4_In_Frame_Del_p.E218del|PAK3_ENST00000262836.4_In_Frame_Del_p.E197del|PAK3_ENST00000372007.4_In_Frame_Del_p.E182del|PAK3_ENST00000372010.1_In_Frame_Del_p.E197del|PAK3_ENST00000417227.1_In_Frame_Del_p.E203del O75914 PAK3_HUMAN p21 protein (Cdc42/Rac)-activated kinase 3 197 Linker. multicellular organismal development ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 41 agatgaagaggaagaagaagaag 0.394 TSP Lung(19;0.15) 8 535 --- --- --- --- MAMLD1 10046 broad.mit.edu 37 X 149639633 149639635 + In_Frame_Del DEL GCA GCA - TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57ebcf76-a502-4b1f-9d5c-f1d692e04e07 a7be39be-646d-47be-ba27-cc833afeac15 g.chrX:149639633_149639635delGCA ENST00000370401.2 + 4 2098_2100 c.1788_1790delGCA c.(1786-1791)ctg>ct p.LQ596del MAMLD1_ENST00000262858.5_In_Frame_Del_p.LQ596del|MAMLD1_ENST00000426613.2_In_Frame_Del_p.LQ571del|MAMLD1_ENST00000455522.2_In_Frame_Del_p.LQ77del|MAMLD1_ENST00000432680.2_In_Frame_Del_p.LQ571del Q13495 MAMD1_HUMAN mastermind-like domain containing 1 596 Poly-Gln. male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2) 37 Acute lymphoblastic leukemia(192;6.56e-05) CCTTgcagctgcagcagcagcag 0.611 8 392 --- --- --- ---