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 PTENP1 0 broad.mit.edu 37 9 33675379 33675379 + RNA SNP C C A TCGA-KC-A7FE-01A-12D-A33T-08 TCGA-KC-A7FE-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9eec79fd-cca8-4d92-bda0-c4d392cfa575 d917fdbc-60b4-4913-8359-0ed1fce972f3 g.chr9:33675379C>A ENST00000532280.1 - 0 2118 NR_023917.1 AAAAAGGTCCCTTTTCAGTTT 0.318000 3 29 1 1 1 1 0 EGFLAM 133584 broad.mit.edu 37 5 38438486 38438486 + Missense_Mutation SNP G G A TCGA-KC-A7FE-01A-12D-A33T-08 TCGA-KC-A7FE-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9eec79fd-cca8-4d92-bda0-c4d392cfa575 d917fdbc-60b4-4913-8359-0ed1fce972f3 g.chr5:38438486G>A ENST00000322350.5 + 17 2739 c.2393G>A c.(2392-2394)aGc>aAc p.S798N EGFLAM_ENST00000354891.3_Missense_Mutation_p.S798N|EGFLAM_ENST00000336740.6_Missense_Mutation_p.S564N|EGFLAM_ENST00000397202.2_Missense_Mutation_p.S164N NM_152403.3 NP_689616.2 Q63HQ2 EGFLA_HUMAN EGF-like, fibronectin type III and laminin G domains 798 EGF-like 3. cell junction|proteinaceous extracellular matrix|synapse NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 85 all_lung(31;0.000385) CATGGGGGCAGCTGCCGGCCC 0.607000 3 22 0 0 1 0 0 AGAP10 728127 broad.mit.edu 37 10 47207813 47207813 + Splice_Site SNP T T C TCGA-KC-A7FE-01A-12D-A33T-08 TCGA-KC-A7FE-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9eec79fd-cca8-4d92-bda0-c4d392cfa575 d917fdbc-60b4-4913-8359-0ed1fce972f3 g.chr10:47207813T>C ENST00000355232.3 - 5 3482 c.471_splice c.e5+1 p.H157_splice RP11-144G6.12_ENST00000605970.1_RNA|AGAP10_ENST00000452145.2_Splice_Site_p.H132_splice|AGAP10_ENST00000413193.2_Splice_Site_p.H228_splice ArfGAP with GTPase domain, ankyrin repeat and PH domain 10 p.H228R(20) endometrium(5)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1) 12 TTTACTTACATGGTTTGTACA 0.294000 3 42 0 0 1 0 0 FSTL5 56884 broad.mit.edu 37 4 162697126 162697126 + Silent SNP G G A TCGA-KC-A7FE-01A-12D-A33T-08 TCGA-KC-A7FE-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9eec79fd-cca8-4d92-bda0-c4d392cfa575 d917fdbc-60b4-4913-8359-0ed1fce972f3 g.chr4:162697126G>A ENST00000306100.5 - 5 946 c.510C>T c.(508-510)ggC>ggT p.G170G FSTL5_ENST00000427802.2_Silent_p.G169G|FSTL5_ENST00000536695.1_Silent_p.G169G|FSTL5_ENST00000379164.4_Silent_p.G169G NM_001128427.2|NM_020116.4 NP_001121899.1|NP_064501.2 Q8N475 FSTL5_HUMAN follistatin-like 5 170 extracellular region calcium ion binding central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 91 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.179) ATATGTCGTCGCCATTAGGAT 0.308000 7 48 0 0 1 0 0 CD48 962 broad.mit.edu 37 1 160651208 160651208 + Missense_Mutation SNP C C T TCGA-KC-A7FE-01A-12D-A33T-08 TCGA-KC-A7FE-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9eec79fd-cca8-4d92-bda0-c4d392cfa575 d917fdbc-60b4-4913-8359-0ed1fce972f3 g.chr1:160651208C>T ENST00000368046.3 - 3 523 c.436G>A c.(436-438)Gac>Aac p.D146N RP11-404F10.2_ENST00000588034.1_RNA|RP11-404F10.2_ENST00000443928.2_RNA NM_001778.3 NP_001769.2 P09326 CD48_HUMAN CD48 molecule 146 Ig-like C2-type 2. blood coagulation|defense response|leukocyte migration integral to plasma membrane|membrane raft protein binding breast(2)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|stomach(1) 10 all_cancers(52;2.18e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0175) TAACAGTTGTCATCCATGTCT 0.458000 21 100 0 0 1 0 0 JAZF1 221895 broad.mit.edu 37 7 27872484 27872484 + Missense_Mutation SNP G G A TCGA-KC-A7FE-01A-12D-A33T-08 TCGA-KC-A7FE-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9eec79fd-cca8-4d92-bda0-c4d392cfa575 d917fdbc-60b4-4913-8359-0ed1fce972f3 g.chr7:27872484G>A ENST00000283928.5 - 5 832 c.667C>T c.(667-669)Cgg>Tgg p.R223W JAZF1_ENST00000466516.1_5'UTR|TAX1BP1_ENST00000488564.1_Intron NM_175061.3 NP_778231.2 Q86VZ6 JAZF1_HUMAN JAZF zinc finger 1 223 negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent transcriptional repressor complex nucleic acid binding|transcription corepressor activity|zinc ion binding JAZF1/SUZ12(133) endometrium(1)|large_intestine(1)|lung(4) 6 GTGTGGTGCCGCAGGCCCTGA 0.488000 T SUZ12 endometrial stromal tumours 4 95 0 0 1 0 0 TPO 7173 broad.mit.edu 37 2 1426846 1426846 + Missense_Mutation SNP G G A rs147325430 byFrequency TCGA-KC-A7FE-01A-12D-A33T-08 TCGA-KC-A7FE-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9eec79fd-cca8-4d92-bda0-c4d392cfa575 d917fdbc-60b4-4913-8359-0ed1fce972f3 g.chr2:1426846G>A ENST00000345913.4 + 3 215 c.124G>A c.(124-126)Gtc>Atc p.V42I TPO_ENST00000497517.2_Intron|TPO_ENST00000382269.3_Missense_Mutation_p.V42I|TPO_ENST00000539820.1_Missense_Mutation_p.V42I|TPO_ENST00000346956.3_Missense_Mutation_p.V42I|TPO_ENST00000382201.3_Missense_Mutation_p.V42I|TPO_ENST00000329066.4_Missense_Mutation_p.V42I|TPO_ENST00000382198.1_Missense_Mutation_p.V42I|TPO_ENST00000337415.3_Missense_Mutation_p.V42I|TPO_ENST00000349624.3_Missense_Mutation_p.V42I NM_000547.5 NP_000538.3 P07202 PERT_HUMAN thyroid peroxidase 42 cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process cell surface|cytoplasm|integral to plasma membrane calcium ion binding|heme binding|iodide peroxidase activity breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12) Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550) TGTCTCTAGCGTCTTGGAGGA 0.572000 4 43 0 0 1 0 0 PNISR 25957 broad.mit.edu 37 6 99852521 99852521 + Missense_Mutation SNP T T G TCGA-KC-A7FE-01A-12D-A33T-08 TCGA-KC-A7FE-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9eec79fd-cca8-4d92-bda0-c4d392cfa575 d917fdbc-60b4-4913-8359-0ed1fce972f3 g.chr6:99852521T>G ENST00000369239.5 - 9 1264 c.1060A>C c.(1060-1062)Att>Ctt p.I354L PNISR_ENST00000438806.1_Missense_Mutation_p.I354L NM_032870.2 NP_116259.2 Q8TF01 PNISR_HUMAN PNN-interacting serine/arginine-rich protein 354 nuclear speck breast(2)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 24 ACGTAATAAATTTCTTCATCT 0.343000 7 45 0 0 1 0 0 AMZ2P1 0 broad.mit.edu 37 17 62968690 62968690 + RNA SNP A A G rs138671696 by1000genomes TCGA-KC-A7FE-01A-12D-A33T-08 TCGA-KC-A7FE-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9eec79fd-cca8-4d92-bda0-c4d392cfa575 d917fdbc-60b4-4913-8359-0ed1fce972f3 g.chr17:62968690A>G ENST00000430983.1 - 0 1554 NR_026903.1 AAAATTCCACAAGTCTCTTGG 0.373000 6 89 0 0 1 0 0 CYP4F11 57834 broad.mit.edu 37 19 16040304 16040304 + Silent SNP G G A TCGA-KC-A7FE-01A-12D-A33T-08 TCGA-KC-A7FE-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9eec79fd-cca8-4d92-bda0-c4d392cfa575 d917fdbc-60b4-4913-8359-0ed1fce972f3 g.chr19:16040304G>A ENST00000326742.7 - 2 307 c.306C>T c.(304-306)tgC>tgT p.C102C CYP4F11_ENST00000402119.3_Silent_p.C102C|CYP4F11_ENST00000248041.7_Silent_p.C102C Q9HBI6 CP4FB_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 11 102 inflammatory response|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome aromatase activity|electron carrier activity|heme binding NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3) 25 TGTCAGGGTGGCATAAAATGA 0.562000 4 175 0 0 1 0 0 INHBC 3626 broad.mit.edu 37 12 57843452 57843452 + Nonsense_Mutation SNP C C T TCGA-KC-A7FE-01A-12D-A33T-08 TCGA-KC-A7FE-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9eec79fd-cca8-4d92-bda0-c4d392cfa575 d917fdbc-60b4-4913-8359-0ed1fce972f3 g.chr12:57843452C>T ENST00000309668.2 + 2 833 c.706C>T c.(706-708)Cga>Tga p.R236* INHBC_ENST00000550133.1_Intron NM_005538.2 NP_005529.1 P55103 INHBC_HUMAN inhibin, beta C 236 growth extracellular region growth factor activity|hormone activity|transforming growth factor beta receptor binding breast(2)|endometrium(1)|large_intestine(6)|liver(2)|lung(4)|prostate(1) 16 GATTCACCGACGAGGCATCGA 0.582000 4 55 0 0 1 0 0 METTL4 64863 broad.mit.edu 37 18 2539121 2539121 + Missense_Mutation SNP G G C TCGA-KC-A7FE-01A-12D-A33T-08 TCGA-KC-A7FE-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9eec79fd-cca8-4d92-bda0-c4d392cfa575 d917fdbc-60b4-4913-8359-0ed1fce972f3 g.chr18:2539121G>C ENST00000319888.6 - 8 2003 c.1205C>G c.(1204-1206)gCc>gGc p.A402G METTL4_ENST00000574538.1_Missense_Mutation_p.P433A Q8N3J2 METL4_HUMAN methyltransferase like 4 0 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 TCCCCATCTGGCTTGATGTAG 0.343000 7 74 0 0 1 0 0 FAM212A 389119 broad.mit.edu 37 3 49842264 49842264 + Silent SNP G G A TCGA-KC-A7FE-01A-12D-A33T-08 TCGA-KC-A7FE-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9eec79fd-cca8-4d92-bda0-c4d392cfa575 d917fdbc-60b4-4913-8359-0ed1fce972f3 g.chr3:49842264G>A ENST00000333323.4 + 2 841 c.708G>A c.(706-708)cgG>cgA p.R236R NM_203370.1 NP_976248.1 Q96EL1 CC054_HUMAN family with sequence similarity 212, member A 234 TTCGGCGCCGGCTGGCCAGGG 0.667000 4 90 0 0 1 0 0 PCDHB7 0 broad.mit.edu 37 5 140554117 140554117 + Silent SNP C C T rs13189269 byFrequency TCGA-KC-A7FE-01A-12D-A33T-08 TCGA-KC-A7FE-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9eec79fd-cca8-4d92-bda0-c4d392cfa575 d917fdbc-60b4-4913-8359-0ed1fce972f3 g.chr5:140554117C>T ENST00000231137.3 + 1 1875 c.1701C>T c.(1699-1701)aaC>aaT p.N567N NM_018940.2 NP_061763.1 Q9Y5E2 PCDB7_HUMAN 567 calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CGCTGCAGAACAGCTCCGCGC 0.726000 4 88 0 0 1 0 0 RP11-156P1.3 0 broad.mit.edu 37 17 45128812 45128812 + RNA SNP C C T TCGA-KC-A7FE-01A-12D-A33T-08 TCGA-KC-A7FE-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9eec79fd-cca8-4d92-bda0-c4d392cfa575 d917fdbc-60b4-4913-8359-0ed1fce972f3 g.chr17:45128812C>T ENST00000575173.1 - 0 418 AGTCCTGTTTCTGTGTGGATT 0.373000 3 37 0 0 1 0 0 HSD17B7P2 0 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-KC-A7FE-01A-12D-A33T-08 TCGA-KC-A7FE-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9eec79fd-cca8-4d92-bda0-c4d392cfa575 d917fdbc-60b4-4913-8359-0ed1fce972f3 g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 3 32 0 0 1 0 0 TEKT3 64518 broad.mit.edu 37 17 15207272 15207272 + Missense_Mutation SNP C C T TCGA-KC-A7FE-01A-12D-A33T-08 TCGA-KC-A7FE-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9eec79fd-cca8-4d92-bda0-c4d392cfa575 d917fdbc-60b4-4913-8359-0ed1fce972f3 g.chr17:15207272C>T ENST00000395930.1 - 9 1640 c.1454G>A c.(1453-1455)cGg>cAg p.R485Q TEKT3_ENST00000338696.2_Missense_Mutation_p.R485Q|TEKT3_ENST00000462175.1_5'UTR NM_031898.2 NP_114104.1 Q9BXF9 TEKT3_HUMAN tektin 3 485 microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule endometrium(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 23 UCEC - Uterine corpus endometrioid carcinoma (92;0.0877) GCCGACCAGCCGGAGGGTGTT 0.532000 3 43 0 0 1 0 0 KIAA0907 22889 broad.mit.edu 37 1 155887387 155887387 + Missense_Mutation SNP T T G TCGA-KC-A7FE-01A-12D-A33T-08 TCGA-KC-A7FE-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9eec79fd-cca8-4d92-bda0-c4d392cfa575 d917fdbc-60b4-4913-8359-0ed1fce972f3 g.chr1:155887387T>G ENST00000368320.3 - 11 1368 c.1343A>C c.(1342-1344)cAg>cCg p.Q448P KIAA0907_ENST00000368321.3_Missense_Mutation_p.Q448P Q7Z7F0 K0907_HUMAN KIAA0907 448 Pro-rich. breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1) 21 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) OV - Ovarian serous cystadenocarcinoma(3;8.82e-06) gggctggggctggggctgggg 0.577000 5 22 0 0 1 0 0 CCDC13 152206 broad.mit.edu 37 3 42754746 42754746 + Missense_Mutation SNP C C T TCGA-KC-A7FE-01A-12D-A33T-08 TCGA-KC-A7FE-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9eec79fd-cca8-4d92-bda0-c4d392cfa575 d917fdbc-60b4-4913-8359-0ed1fce972f3 g.chr3:42754746C>T ENST00000310232.6 - 14 1864 c.1781G>A c.(1780-1782)cGc>cAc p.R594H NM_144719.3 NP_653320.3 Q8IYE1 CCD13_HUMAN coiled-coil domain containing 13 594 endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1) 25 CACCACGGTGCGGTGTCGCTC 0.607000 4 105 0 0 1 0 0 MYO9A 4649 broad.mit.edu 37 15 72119078 72119078 + Missense_Mutation SNP T T C TCGA-KC-A7FE-01A-12D-A33T-08 TCGA-KC-A7FE-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9eec79fd-cca8-4d92-bda0-c4d392cfa575 d917fdbc-60b4-4913-8359-0ed1fce972f3 g.chr15:72119078T>C ENST00000356056.5 - 42 7962 c.7490A>G c.(7489-7491)aAg>aGg p.K2497R MYO9A_ENST00000424560.1_Missense_Mutation_p.K2568R|MYO9A_ENST00000564571.1_3'UTR|MYO9A_ENST00000444904.1_Missense_Mutation_p.K2478R NM_006901.3 NP_008832.2 B2RTY4 MYO9A_HUMAN myosin IXA 2497 Tail. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception cytosol|integral to membrane|unconventional myosin complex actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 88 TTGTTTGCCCTTTTCCGGGTT 0.488000 3 119 0 0 1 0 0 GLOD4 51031 broad.mit.edu 37 17 663480 663480 + Splice_Site SNP T T G TCGA-KC-A7FE-01A-12D-A33T-08 TCGA-KC-A7FE-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9eec79fd-cca8-4d92-bda0-c4d392cfa575 d917fdbc-60b4-4913-8359-0ed1fce972f3 g.chr17:663480T>G ENST00000301329.6 - 9 917 c.e9-2 GLOD4_ENST00000536578.1_Splice_Site|GLOD4_ENST00000301328.5_Splice_Site NM_016080.3 NP_057164.3 Q9HC38 GLOD4_HUMAN glyoxalase domain containing 4 mitochondrion endometrium(1)|large_intestine(1)|prostate(1) 3 UCEC - Uterine corpus endometrioid carcinoma (25;0.022) TGCCATTGCCTGTAAAATAGA 0.383000 4 57 0 0 1 0 0 AC016995.3 0 broad.mit.edu 37 2 38710017 38710019 + RNA DEL AAT AAT - rs2005502 by1000genomes TCGA-KC-A7FE-01A-12D-A33T-08 TCGA-KC-A7FE-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9eec79fd-cca8-4d92-bda0-c4d392cfa575 d917fdbc-60b4-4913-8359-0ed1fce972f3 g.chr2:38710017_38710019delAAT ENST00000417039.1 - 0 696 TTCTTtaaaaaataaataaataa 0.246 3 5 --- --- --- --- POU4F1 5457 broad.mit.edu 37 13 79176484 79176486 + In_Frame_Del DEL TGG TGG - TCGA-KC-A7FE-01A-12D-A33T-08 TCGA-KC-A7FE-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9eec79fd-cca8-4d92-bda0-c4d392cfa575 d917fdbc-60b4-4913-8359-0ed1fce972f3 g.chr13:79176484_79176486delTGG ENST00000377208.5 - 2 535_537 c.324_326delCCA c.(322-327)cag>ca p.HQ108del RNF219-AS1_ENST00000560584.2_RNA|RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000606124.1_RNA|RNF219-AS1_ENST00000607220.1_RNA|RNF219-AS1_ENST00000560209.2_RNA|RNF219-AS1_ENST00000607860.1_RNA|RNF219-AS1_ENST00000444769.3_RNA|RNF219-AS1_ENST00000430549.2_RNA|RNF219-AS1_ENST00000607205.1_RNA|RNF219-AS1_ENST00000606376.1_RNA NM_006237.3 NP_006228.3 Q01851 PO4F1_HUMAN POU class 4 homeobox 1 108 Poly-His. axonogenesis|regulation of transcription from RNA polymerase II promoter|synapse assembly nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.H108delH(1) central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1) 16 Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848) GBM - Glioblastoma multiforme(99;0.129) TTCGAGCGCCtggtggtggtggt 0.729 3 3 --- --- --- --- ARHGAP6 395 broad.mit.edu 37 X 11157492 11157493 + Frame_Shift_Ins INS - - G TCGA-KC-A7FE-01A-12D-A33T-08 TCGA-KC-A7FE-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9eec79fd-cca8-4d92-bda0-c4d392cfa575 d917fdbc-60b4-4913-8359-0ed1fce972f3 g.chrX:11157492_11157493insG ENST00000337414.4 - 13 3287_3288 c.2415_2416insC c.(2413-2418)cccgacfs p.D806fs ARHGAP6_ENST00000534860.1_Intron|ARHGAP6_ENST00000380736.1_Frame_Shift_Ins_p.D603fs|ARHGAP6_ENST00000303025.6_Frame_Shift_Ins_p.D603fs NM_013427.2 NP_038286.2 O43182 RHG06_HUMAN Rho GTPase activating protein 6 806 actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction actin filament|cytosol phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 CCCTCCGTCGCGGGGGCTGCGG 0.733 2 4 --- --- --- ---