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 SPRR3 6707 broad.mit.edu 37 1 152975781 152975781 + Silent SNP G G A TCGA-HC-7209-01A-11D-2114-08 TCGA-HC-7209-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12dd9452-9a7b-4193-85c7-573b088b1979 77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6 g.chr1:152975781G>A ENST00000331860.3 + 3 435 c.285G>A c.(283-285)gaG>gaA p.E95E SPRR3_ENST00000542696.1_Intron|SPRR3_ENST00000295367.4_Silent_p.E95E NM_005416.2 NP_005407.1 Q9UBC9 SPRR3_HUMAN small proline-rich protein 3 95 14 X 8 AA approximate tandem repeats. keratinization|peptide cross-linking|wound healing cytoplasm protein binding|structural molecule activity endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 11 Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) AGGTCCCTGAGCCAGGTTGTA 0.592 18 38 --- --- --- --- RPSA 3921 broad.mit.edu 37 3 39450137 39450137 + Silent SNP T T G TCGA-HC-7209-01A-11D-2114-08 TCGA-HC-7209-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12dd9452-9a7b-4193-85c7-573b088b1979 77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6 g.chr3:39450137T>G ENST00000301821.6 + 3 283 c.174T>G c.(172-174)ctT>ctG p.L58L RPSA_ENST00000478027.1_3'UTR|RPSA_ENST00000443003.1_Silent_p.L58L NM_001012321.1|NM_002295.4 NP_001012321.1|NP_002286.2 P08865 RSSA_HUMAN ribosomal protein SA 58 Interaction with PPP1R16B. cell adhesion|endocrine pancreas development|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 3'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|ribosomal small subunit assembly|rRNA export from nucleus|translational elongation|translational termination|viral transcription 90S preribosome|cytosolic small ribosomal subunit|nucleus|plasma membrane protein binding|receptor activity|ribosome binding|structural constituent of ribosome endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 7 KIRC - Kidney renal clear cell carcinoma(284;0.0509)|Kidney(284;0.064) GGGAGAAGCTTCTGCTGGCAG 0.458 16 46 --- --- --- --- FOXP1 27086 broad.mit.edu 37 3 71037204 71037204 + Nonsense_Mutation SNP G G A TCGA-HC-7209-01A-11D-2114-08 TCGA-HC-7209-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12dd9452-9a7b-4193-85c7-573b088b1979 77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6 g.chr3:71037204G>A ENST00000318789.4 - 14 1612 c.1087C>T c.(1087-1089)Caa>Taa p.Q363* FOXP1_ENST00000491238.1_Nonsense_Mutation_p.Q365*|FOXP1_ENST00000498215.1_Nonsense_Mutation_p.Q363*|FOXP1_ENST00000493089.1_Nonsense_Mutation_p.Q363*|FOXP1_ENST00000475937.1_Nonsense_Mutation_p.Q363*|FOXP1_ENST00000484350.1_Nonsense_Mutation_p.Q287*|FOXP1_ENST00000468577.1_Nonsense_Mutation_p.Q363* NM_001244810.1|NM_001244813.1|NM_032682.5 NP_001231739.1|NP_001231742.1|NP_116071.2 Q9H334 FOXP1_HUMAN forkhead box P1 363 Leucine-zipper. cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209) BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05) ATCATGGCTTGCAGGCGTTCT 0.428 T PAX5 ALL 63 154 --- --- --- --- TLR1 7096 broad.mit.edu 37 4 38798749 38798749 + Silent SNP C C T TCGA-HC-7209-01A-11D-2114-08 TCGA-HC-7209-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12dd9452-9a7b-4193-85c7-573b088b1979 77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6 g.chr4:38798749C>T ENST00000308979.2 - 4 1977 c.1704G>A c.(1702-1704)aaG>aaA p.K568K TLR1_ENST00000502213.2_Silent_p.K568K NM_003263.3 NP_003254.2 Q15399 TLR1_HUMAN toll-like receptor 1 568 LRRCT. cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex protein heterodimerization activity|transmembrane receptor activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2) 28 TGTGAAAGTCCTTTAGTAGGG 0.448 32 111 --- --- --- --- DCHS2 54798 broad.mit.edu 37 4 155158120 155158120 + Missense_Mutation SNP C C A TCGA-HC-7209-01A-11D-2114-08 TCGA-HC-7209-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12dd9452-9a7b-4193-85c7-573b088b1979 77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6 g.chr4:155158120C>A ENST00000357232.4 - 25 6318 c.6319G>T c.(6319-6321)Gct>Tct p.A2107S NM_017639.3 NP_060109.2 Q6V1P9 PCD23_HUMAN dachsous cadherin-related 2 Cadherin 19. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 176 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) CCAACCAGAGCATCCTCACTT 0.398 5 207 --- --- --- --- NYAP1 222950 broad.mit.edu 37 7 100084560 100084560 + Missense_Mutation SNP C C T TCGA-HC-7209-01A-11D-2114-08 TCGA-HC-7209-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12dd9452-9a7b-4193-85c7-573b088b1979 77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6 g.chr7:100084560C>T ENST00000423930.1 + 3 344 c.185C>T c.(184-186)aCg>aTg p.T62M NYAP1_ENST00000300179.2_Missense_Mutation_p.T62M|NYAP1_ENST00000454988.1_Missense_Mutation_p.T5M Q6ZVC0 CG051_HUMAN neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1 62 GGTTTCATGACGATGCCCGCC 0.751 4 11 --- --- --- --- KIFC2 90990 broad.mit.edu 37 8 145697577 145697577 + Silent SNP G G A TCGA-HC-7209-01A-11D-2114-08 TCGA-HC-7209-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12dd9452-9a7b-4193-85c7-573b088b1979 77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6 g.chr8:145697577G>A ENST00000301332.2 + 14 1919 c.1542G>A c.(1540-1542)gaG>gaA p.E514E KIFC2_ENST00000531423.1_3'UTR|KIFC2_ENST00000301331.5_Silent_p.E262E NM_145754.2 NP_665697.1 Q96AC6 KIFC2_HUMAN kinesin family member C2 514 Kinesin-motor. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity|protein binding central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(3)|prostate(3)|skin(2)|urinary_tract(1) 19 all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055) TGTTCCGGGAGATGGGGGCCG 0.652 3 74 --- --- --- --- ABL1 25 broad.mit.edu 37 9 133753877 133753877 + Missense_Mutation SNP A A G TCGA-HC-7209-01A-11D-2114-08 TCGA-HC-7209-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12dd9452-9a7b-4193-85c7-573b088b1979 77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6 g.chr9:133753877A>G ENST00000318560.5 + 8 1727 c.1346A>G c.(1345-1347)tAt>tGt p.Y449C NM_005157.4 NP_005148.2 P00519 ABL1_HUMAN c-abl oncogene 1, non-receptor tyrosine kinase 449 Protein kinase. actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 1195 all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.4e-05) Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619) TCCCAGGTGTATGAGCTGCTA 0.507 """T, Mis""" """BCR, ETV6, NUP214""" """CML, ALL, T-ALL""" 62 178 --- --- --- --- LDB3 11155 broad.mit.edu 37 10 88447004 88447004 + Nonsense_Mutation SNP C C T TCGA-HC-7209-01A-11D-2114-08 TCGA-HC-7209-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12dd9452-9a7b-4193-85c7-573b088b1979 77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6 g.chr10:88447004C>T ENST00000429277.2 + 6 1013 c.868C>T c.(868-870)Caa>Taa p.Q290* LDB3_ENST00000542786.1_3'UTR|LDB3_ENST00000458213.2_Nonsense_Mutation_p.Q175*|LDB3_ENST00000372066.3_Nonsense_Mutation_p.Q175*|LDB3_ENST00000372056.4_Nonsense_Mutation_p.Q290*|LDB3_ENST00000361373.4_Intron|LDB3_ENST00000263066.6_Nonsense_Mutation_p.Q175*|LDB3_ENST00000310944.6_Intron|LDB3_ENST00000352360.5_Intron NM_001171610.1 NP_001165081.1 O75112 LDB3_HUMAN LIM domain binding 3 280 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 TGGGCAGGCCCAAGCCCAAGG 0.637 21 82 --- --- --- --- CHAMP1 283489 broad.mit.edu 37 13 115090966 115090966 + Missense_Mutation SNP T T C TCGA-HC-7209-01A-11D-2114-08 TCGA-HC-7209-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12dd9452-9a7b-4193-85c7-573b088b1979 77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6 g.chr13:115090966T>C ENST00000361283.1 + 3 1958 c.1649T>C c.(1648-1650)cTt>cCt p.L550P NM_001164144.1|NM_001164145.1|NM_032436.2 NP_001157616.1|NP_001157617.1|NP_115812.1 Q96JM3 ZN828_HUMAN chromosome alignment maintaining phosphoprotein 1 550 Mediates localization to the spindle and the kinetochore and is required for the attachment of spindle microtubules to the kinetochore.|Pro-rich. attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation condensed chromosome kinetochore|cytoplasm|nucleus|spindle nucleic acid binding|protein binding|zinc ion binding AAACGTGCCCTTTTTCCAGAG 0.517 5 328 --- --- --- --- C14orf159 80017 broad.mit.edu 37 14 91655506 91655506 + Missense_Mutation SNP T T G TCGA-HC-7209-01A-11D-2114-08 TCGA-HC-7209-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12dd9452-9a7b-4193-85c7-573b088b1979 77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6 g.chr14:91655506T>G ENST00000518868.1 + 12 1877 c.1187T>G c.(1186-1188)gTt>gGt p.V396G C14orf159_ENST00000523816.1_Missense_Mutation_p.V391G|C14orf159_ENST00000256324.10_Missense_Mutation_p.V396G|C14orf159_ENST00000521077.2_Missense_Mutation_p.V396G|C14orf159_ENST00000428926.2_Missense_Mutation_p.V391G|C14orf159_ENST00000525393.2_Missense_Mutation_p.V267G|C14orf159_ENST00000523771.1_Missense_Mutation_p.V391G|C14orf159_ENST00000412671.2_Missense_Mutation_p.V396G|C14orf159_ENST00000522322.1_Missense_Mutation_p.V391G|C14orf159_ENST00000520328.1_Missense_Mutation_p.V379G Q7Z3D6 CN159_HUMAN chromosome 14 open reading frame 159 391 mitochondrion NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 21 all_cancers(154;0.0191)|all_epithelial(191;0.241) Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207) GAAGATGCTGTTGAGCAAGGT 0.532 19 87 --- --- --- --- KNOP1 400506 broad.mit.edu 37 16 19725711 19725711 + Missense_Mutation SNP T T G TCGA-HC-7209-01A-11D-2114-08 TCGA-HC-7209-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12dd9452-9a7b-4193-85c7-573b088b1979 77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6 g.chr16:19725711T>G ENST00000219837.7 - 2 725 c.647A>C c.(646-648)aAa>aCa p.K216T AC002550.5_ENST00000565916.1_RNA NM_001012991.2 NP_001013009.2 lysine-rich nucleolar protein 1 GTGGATTTTTTTTTTCTTCTT 0.532 3 59 --- --- --- --- KIAA1328 57536 broad.mit.edu 37 18 34802090 34802090 + Missense_Mutation SNP G G T TCGA-HC-7209-01A-11D-2114-08 TCGA-HC-7209-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12dd9452-9a7b-4193-85c7-573b088b1979 77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6 g.chr18:34802090G>T ENST00000591619.1 + 10 2408 c.1622G>T c.(1621-1623)cGa>cTa p.R541L KIAA1328_ENST00000280020.5_Missense_Mutation_p.R545L|KIAA1328_ENST00000543923.1_Intron|KIAA1328_ENST00000586135.1_3'UTR Q86T90 K1328_HUMAN KIAA1328 545 central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(2)|upper_aerodigestive_tract(1) 14 COAD - Colon adenocarcinoma(74;0.195) GGTACTTTCCGACTCAGTCCT 0.478 4 15 --- --- --- --- YJEFN3 374887 broad.mit.edu 37 19 19645880 19645880 + Missense_Mutation SNP C C T TCGA-HC-7209-01A-11D-2114-08 TCGA-HC-7209-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12dd9452-9a7b-4193-85c7-573b088b1979 77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6 g.chr19:19645880C>T ENST00000555938.1 + 5 365 c.353C>T c.(352-354)aCg>aTg p.T118M YJEFN3_ENST00000436027.5_Missense_Mutation_p.T69M|YJEFN3_ENST00000514277.4_Missense_Mutation_p.T119M|YJEFN3_ENST00000608404.1_Missense_Mutation_p.T118M AAGCAGAGGACGGTGCTGGTC 0.642 73 152 --- --- --- --- VPS16 64601 broad.mit.edu 37 20 2842496 2842496 + Silent SNP G G A TCGA-HC-7209-01A-11D-2114-08 TCGA-HC-7209-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12dd9452-9a7b-4193-85c7-573b088b1979 77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6 g.chr20:2842496G>A ENST00000380445.3 + 10 1017 c.945G>A c.(943-945)ggG>ggA p.G315G VPS16_ENST00000380469.3_Intron|VPS16_ENST00000481812.2_3'UTR NM_022575.2 NP_072097.2 Q9H269 VPS16_HUMAN vacuolar protein sorting 16 homolog (S. cerevisiae) 315 intracellular protein transport early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 37 AGCTCGATGGGGTCCGCATCT 0.592 7 24 --- --- --- --- IL3RA 3563 broad.mit.edu 37 X 1501315 1501315 + Missense_Mutation SNP A A G TCGA-HC-7209-01A-11D-2114-08 TCGA-HC-7209-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12dd9452-9a7b-4193-85c7-573b088b1979 77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6 g.chrX:1501315A>G ENST00000331035.4 + 12 1443 c.1094A>G c.(1093-1095)gAg>gGg p.E365G IL3RA_ENST00000381469.2_Missense_Mutation_p.E287G NM_001267713.1|NM_002183.3 NP_001254642.1|NP_002174.1 P26951 IL3RA_HUMAN interleukin 3 receptor, alpha (low affinity) 365 integral to membrane|plasma membrane interleukin-3 receptor activity lung(1)|skin(2) 3 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) Sargramostim(DB00020) GCCGGCCTGGAGGAGTGTCTG 0.637 32 161 --- --- --- --- RXFP1 59350 broad.mit.edu 37 4 159549858 159549858 + Frame_Shift_Del DEL A A - TCGA-HC-7209-01A-11D-2114-08 TCGA-HC-7209-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12dd9452-9a7b-4193-85c7-573b088b1979 77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6 g.chr4:159549858delA ENST00000307765.5 + 11 1147 c.896delA c.(895-897)gaafs p.E299fs RXFP1_ENST00000460056.2_Frame_Shift_Del_p.E218fs|RXFP1_ENST00000343542.5_Frame_Shift_Del_p.E299fs|RXFP1_ENST00000470033.1_Frame_Shift_Del_p.E266fs|RXFP1_ENST00000448688.2_Frame_Shift_Del_p.E194fs NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3 NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2 Q9HBX9 RXFP1_HUMAN relaxin/insulin-like family peptide receptor 1 299 integral to membrane|plasma membrane G-protein coupled receptor activity|metal ion binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10) 49 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.0219) AAACTGGATGAATTGTAAGTA 0.264 11 31 --- --- --- ---