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 MST1R 4486 broad.mit.edu 37 3 49924789 49924789 + Missense_Mutation SNP C C A rs137882771 byFrequency TCGA-KS-A4I9-01A-11D-A257-08 TCGA-KS-A4I9-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 793cb62b-2e51-4307-9d52-3335cc63054d 7e5e2a63-f999-4600-b2ef-341036a6259e g.chr3:49924789C>A ENST00000296474.3 - 20 4181 c.4154G>T c.(4153-4155)gGg>gTg p.G1385V MST1R_ENST00000344206.4_Missense_Mutation_p.G1336V NM_002447.2 NP_002438.2 Q04912 RON_HUMAN macrophage stimulating 1 receptor (c-met-related tyrosine kinase) 1385 cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|macrophage colony-stimulating factor receptor activity|protein binding cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3) 37 BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625) GCGTACATTCCCTGGCATGGG 0.587000 6 103 0.00198382 0.00198382 1 1 0 SDHAP1 0 broad.mit.edu 37 3 195709088 195709088 + RNA SNP T T C rs62282854 by1000genomes TCGA-KS-A4I9-01A-11D-A257-08 TCGA-KS-A4I9-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 793cb62b-2e51-4307-9d52-3335cc63054d 7e5e2a63-f999-4600-b2ef-341036a6259e g.chr3:195709088T>C ENST00000427841.1 - 0 843 NR_003264.2 CCGTCCTGTATGCACAGTGCG 0.423000 5 15 0 0 1 0 0 SLCO4C1 353189 broad.mit.edu 37 5 101599455 101599455 + Missense_Mutation SNP G G C TCGA-KS-A4I9-01A-11D-A257-08 TCGA-KS-A4I9-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 793cb62b-2e51-4307-9d52-3335cc63054d 7e5e2a63-f999-4600-b2ef-341036a6259e g.chr5:101599455G>C ENST00000310954.6 - 4 1118 c.832C>G c.(832-834)Cct>Gct p.P278A NM_180991.4 NP_851322.3 Q6ZQN7 SO4C1_HUMAN solute carrier organic anion transporter family, member 4C1 278 cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis basolateral plasma membrane|integral to membrane sodium-independent organic anion transmembrane transporter activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5) 50 all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486) Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986) CCAATAGCAGGGCCTAAGATT 0.373000 21 41 0 0 1 0 0 ZFP41 286128 broad.mit.edu 37 8 144332178 144332178 + Missense_Mutation SNP A A C TCGA-KS-A4I9-01A-11D-A257-08 TCGA-KS-A4I9-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 793cb62b-2e51-4307-9d52-3335cc63054d 7e5e2a63-f999-4600-b2ef-341036a6259e g.chr8:144332178A>C ENST00000330701.4 + 2 534 c.165A>C c.(163-165)gaA>gaC p.E55D ZFP41_ENST00000522452.1_Missense_Mutation_p.E55D|ZFP41_ENST00000520584.1_Missense_Mutation_p.E55D NM_173832.3 NP_776193.1 Q8N8Y5 ZFP41_HUMAN ZFP41 zinc finger protein 55 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|lung(4)|ovary(1) 8 all_cancers(97;1.01e-10)|all_epithelial(106;4.6e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173) TGAGTCCTGAAGACGAAGAGC 0.547000 18 27 0 0 1 0 0 POTEC 388468 broad.mit.edu 37 18 14533105 14533105 + Missense_Mutation SNP G G C TCGA-KS-A4I9-01A-11D-A257-08 TCGA-KS-A4I9-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 793cb62b-2e51-4307-9d52-3335cc63054d 7e5e2a63-f999-4600-b2ef-341036a6259e g.chr18:14533105G>C ENST00000358970.5 - 5 1009 c.1010C>G c.(1009-1011)tCt>tGt p.S337C POTEC_ENST00000389891.4_5'UTR NM_001137671.1 NP_001131143.1 B2RU33 POTEC_HUMAN POTE ankyrin domain family, member C 337 S -> C (in Ref. 2; AAI40941). NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 CGTCTGTCCAGATAGATCTTG 0.358000 6 120 0 0 1 0 0 ZNF135 7694 broad.mit.edu 37 19 58578512 58578512 + Silent SNP A A G TCGA-KS-A4I9-01A-11D-A257-08 TCGA-KS-A4I9-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 793cb62b-2e51-4307-9d52-3335cc63054d 7e5e2a63-f999-4600-b2ef-341036a6259e g.chr19:58578512A>G ENST00000506786.1 + 5 1088 c.534A>G c.(532-534)ggA>ggG p.G178G ZNF135_ENST00000439855.2_Silent_p.G220G|ZNF135_ENST00000359978.6_Silent_p.G232G|ZNF135_ENST00000313434.5_Silent_p.G220G|ZNF135_ENST00000401053.4_Silent_p.G244G|ZNF135_ENST00000511556.1_Silent_p.G232G B4DHH9 B4DHH9_HUMAN zinc finger protein 135 232 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1) 41 Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161) AGGAATGCGGAAAGGCCTTTA 0.473000 6 119 0 0 1 0 0 FBLN1 2192 broad.mit.edu 37 22 45970525 45970525 + Missense_Mutation SNP G G A TCGA-KS-A4I9-01A-11D-A257-08 TCGA-KS-A4I9-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 793cb62b-2e51-4307-9d52-3335cc63054d 7e5e2a63-f999-4600-b2ef-341036a6259e g.chr22:45970525G>A ENST00000348697.2 + 18 1979 c.1832G>A c.(1831-1833)cGc>cAc p.R611H FBLN1_ENST00000327858.6_Missense_Mutation_p.R611H P23142 FBLN1_HUMAN fibulin 1 611 interspecies interaction between organisms extracellular space|soluble fraction calcium ion binding|extracellular matrix structural constituent|protein binding biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1) 30 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0182) GAGTTCACCCGCCCTGAAGGT 0.627000 5 15 0 0 1 0 0 KRT33B 3884 broad.mit.edu 37 17 39525654 39525654 + Splice_Site SNP C C A TCGA-KS-A4I9-01A-11D-A257-08 TCGA-KS-A4I9-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 793cb62b-2e51-4307-9d52-3335cc63054d 7e5e2a63-f999-4600-b2ef-341036a6259e g.chr17:39525654C>A ENST00000251646.3 - 1 398 c.e1+1 NM_002279.4 NP_002270.1 Q14525 KT33B_HUMAN keratin 33B intermediate filament protein binding|structural molecule activity NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1) 21 Breast(137;0.000496) CACCTCCTCACCTTCTGCTGG 0.507000 14 34 2.62699e-14 3.04731e-14 1 1 0 STAR 6770 broad.mit.edu 37 8 38005761 38005761 + Missense_Mutation SNP C C T TCGA-KS-A4I9-01A-11D-A257-08 TCGA-KS-A4I9-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 793cb62b-2e51-4307-9d52-3335cc63054d 7e5e2a63-f999-4600-b2ef-341036a6259e g.chr8:38005761C>T ENST00000276449.4 - 3 709 c.263G>A c.(262-264)gGc>gAc p.G88D NM_000349.2 NP_000340.2 P49675 STAR_HUMAN steroidogenic acute regulatory protein 88 START. C21-steroid hormone biosynthetic process mitochondrial intermembrane space cholesterol transporter activity breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1) 11 Colorectal(12;0.000442) all_lung(54;0.0151)|Lung NSC(58;0.0295) READ - Rectum adenocarcinoma(644;0.188) GCTAAGGATGCCCAAGGCCTT 0.582000 13 25 0 0 1 0 0 FAM86EP 0 broad.mit.edu 37 4 3944184 3944184 + RNA SNP C C T rs34583792 by1000genomes TCGA-KS-A4I9-01A-11D-A257-08 TCGA-KS-A4I9-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 793cb62b-2e51-4307-9d52-3335cc63054d 7e5e2a63-f999-4600-b2ef-341036a6259e g.chr4:3944184C>T ENST00000313946.8 - 0 2147 CTGCGGGAGTCGCAGCAGCTC 0.532000 3 22 0 0 1 0 0 SMURF2 64750 broad.mit.edu 37 17 62542046 62542046 + Missense_Mutation SNP G G A TCGA-KS-A4I9-01A-11D-A257-08 TCGA-KS-A4I9-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 793cb62b-2e51-4307-9d52-3335cc63054d 7e5e2a63-f999-4600-b2ef-341036a6259e g.chr17:62542046G>A ENST00000262435.9 - 19 2354 c.2167C>T c.(2167-2169)Cca>Tca p.P723S NM_022739.3 NP_073576.1 Q9HAU4 SMUF2_HUMAN SMAD specific E3 ubiquitin protein ligase 2 723 HECT. BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process cytosol|membrane raft|nucleus|plasma membrane|ubiquitin ligase complex identical protein binding|SMAD binding|ubiquitin-protein ligase activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(4) 22 Breast(5;1.32e-14) BRCA - Breast invasive adenocarcinoma(8;9.88e-12) TCATAGGGTGGAATGTCTATT 0.368000 19 26 0 0 1 0 0 NOLC1 9221 broad.mit.edu 37 10 103912209 103912209 + Silent SNP G G A rs116928523 byFrequency TCGA-KS-A4I9-01A-11D-A257-08 TCGA-KS-A4I9-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 793cb62b-2e51-4307-9d52-3335cc63054d 7e5e2a63-f999-4600-b2ef-341036a6259e g.chr10:103912209G>A ENST00000405356.1 + 1 277 c.42G>A c.(40-42)ctG>ctA p.L14L NOLC1_ENST00000605788.1_Silent_p.L14L|NOLC1_ENST00000488254.2_Silent_p.L14L|NOLC1_ENST00000603742.1_5'UTR Q14978 NOLC1_HUMAN nucleolar and coiled-body phosphoprotein 1 14 LisH. mitosis|rRNA processing cytoplasm|nucleolus ATP binding|GTP binding|protein binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1) 31 Colorectal(252;0.122) Epithelial(162;5.19e-08)|all cancers(201;9.43e-07) CCAGCGACCTGTATCCCCTCG 0.622000 5 67 0 0 1 0 0 STARD3 0 broad.mit.edu 37 17 37809863 37809863 + Missense_Mutation SNP T T G TCGA-KS-A4I9-01A-11D-A257-08 TCGA-KS-A4I9-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 793cb62b-2e51-4307-9d52-3335cc63054d 7e5e2a63-f999-4600-b2ef-341036a6259e g.chr17:37809863T>G ENST00000336308.5 + 2 297 c.79T>G c.(79-81)Tcc>Gcc p.S27A STARD3_ENST00000580611.1_Missense_Mutation_p.S27A|STARD3_ENST00000394250.4_Missense_Mutation_p.S27A|STARD3_ENST00000544210.2_Missense_Mutation_p.S27A|STARD3_ENST00000578232.1_Intron NM_001165937.1|NM_006804.3 NP_001159409.1|NP_006795.3 Q14849 STAR3_HUMAN StAR-related lipid transfer (START) domain containing 3 27 cholesterol metabolic process|mitochondrial transport|steroid biosynthetic process integral to membrane|late endosome membrane cholesterol binding|cholesterol transporter activity endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|prostate(2)|stomach(1) 14 Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171) CTCCTCACTGTCCCACAGCCA 0.662000 OREG0024381 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 17 23 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-KS-A4I9-01A-11D-A257-08 TCGA-KS-A4I9-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 793cb62b-2e51-4307-9d52-3335cc63054d 7e5e2a63-f999-4600-b2ef-341036a6259e g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 12 50 0 0 1 0 0 RP11-423O2.5 0 broad.mit.edu 37 1 142803646 142803646 + RNA SNP G G A TCGA-KS-A4I9-01A-11D-A257-08 TCGA-KS-A4I9-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 793cb62b-2e51-4307-9d52-3335cc63054d 7e5e2a63-f999-4600-b2ef-341036a6259e g.chr1:142803646G>A ENST00000423385.1 - 0 1319 gttgtattctgggctagacat 0.299000 5 46 0 0 1 0 0 PADI6 353238 broad.mit.edu 37 1 17721722 17721723 + RNA DEL GA GA - rs58784721 TCGA-KS-A4I9-01A-11D-A257-08 TCGA-KS-A4I9-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 793cb62b-2e51-4307-9d52-3335cc63054d 7e5e2a63-f999-4600-b2ef-341036a6259e g.chr1:17721722_17721723delGA ENST00000434762.2 + 0 1545 Q6TGC4 PADI6_HUMAN peptidyl arginine deiminase, type VI peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm|nucleus calcium ion binding|protein-arginine deiminase activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2) 29 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189) L-Citrulline(DB00155) tttgttttttgagagtcttgct 0.485 3 6 --- --- --- --- PABPC1 26986 broad.mit.edu 37 8 101730036 101730037 + Frame_Shift_Ins INS - - C TCGA-KS-A4I9-01A-11D-A257-08 TCGA-KS-A4I9-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 793cb62b-2e51-4307-9d52-3335cc63054d 7e5e2a63-f999-4600-b2ef-341036a6259e g.chr8:101730036_101730037insC ENST00000318607.5 - 3 1595_1596 c.467_468insG c.(466-468)gaafs p.E156fs PABPC1_ENST00000519004.1_Frame_Shift_Ins_p.E111fs|PABPC1_ENST00000522387.1_Frame_Shift_Ins_p.E124fs NM_002568.3 NP_002559.2 P11940 PABP1_HUMAN poly(A) binding protein, cytoplasmic 1 156 RRM 2. mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation catalytic step 2 spliceosome|cytosol nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1) 40 all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125) Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206) CATTCATTTTTTCAATAGCTCT 0.337 7 32 --- --- --- --- EBLN1 340900 broad.mit.edu 37 10 22498484 22498485 + In_Frame_Ins INS - - AGA rs145490621 by1000genomes TCGA-KS-A4I9-01A-11D-A257-08 TCGA-KS-A4I9-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 793cb62b-2e51-4307-9d52-3335cc63054d 7e5e2a63-f999-4600-b2ef-341036a6259e g.chr10:22498484_22498485insAGA ENST00000422359.2 - 1 465_466 c.428_429insTCT c.(427-429)cat>cTCTat p.143_143H>LY NM_001199938.1 NP_001186867.1 endogenous Bornavirus-like nucleoprotein 1 CAATGCCTATCAGATCACAGCA 0.455 4 4 --- --- --- --- RRN3P2 0 broad.mit.edu 37 16 29113498 29113498 + RNA DEL T T - rs11366120 TCGA-KS-A4I9-01A-11D-A257-08 TCGA-KS-A4I9-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 793cb62b-2e51-4307-9d52-3335cc63054d 7e5e2a63-f999-4600-b2ef-341036a6259e g.chr16:29113498delT ENST00000564580.1 + 0 1360 AGGAGGTGGAttttttttttc 0.542 4 7 --- --- --- --- RP5-1043L13.1 0 broad.mit.edu 37 20 58883399 58883400 + RNA INS - - T rs149794923 by1000genomes TCGA-KS-A4I9-01A-11D-A257-08 TCGA-KS-A4I9-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 793cb62b-2e51-4307-9d52-3335cc63054d 7e5e2a63-f999-4600-b2ef-341036a6259e g.chr20:58883399_58883400insT ENST00000432910.1 + 0 332 NR_046099.1 ggaccgggaaacagatgcttac 0.569 3 4 --- --- --- ---