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 PDCD4 27250 broad.mit.edu 37 10 112649373 112649373 + Missense_Mutation SNP A A G TCGA-EM-A3O3-01A-11D-A21Z-08 TCGA-EM-A3O3-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdb360bf-44b7-4550-80df-f34bcddbcb0c 69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c g.chr10:112649373A>G ENST00000393104.2 + 8 1187 c.827A>G c.(826-828)gAt>gGt p.D276G PDCD4_ENST00000280154.7_Missense_Mutation_p.D287G|PDCD4_ENST00000481353.1_3'UTR NM_145341.3 NP_663314.1 Q53EL6 PDCD4_HUMAN programmed cell death 4 (neoplastic transformation inhibitor) 287 MI 1. apoptosis|cell aging|negative regulation of cell cycle|negative regulation of JUN kinase activity|negative regulation of transcription, DNA-dependent cytosol|nucleus protein binding|RNA binding breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1) 13 Breast(234;0.0848)|Lung NSC(174;0.238) Epithelial(162;0.000526)|all cancers(201;0.00794)|BRCA - Breast invasive adenocarcinoma(275;0.125) GGAACTGTAGATTGTGTGCAG 0.338000 12 57 0 0 1 0 0 ZMIZ1 57178 broad.mit.edu 37 10 81060655 81060655 + Missense_Mutation SNP C C G TCGA-EM-A3O3-01A-11D-A21Z-08 TCGA-EM-A3O3-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdb360bf-44b7-4550-80df-f34bcddbcb0c 69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c g.chr10:81060655C>G ENST00000334512.5 + 17 2547 c.1975C>G c.(1975-1977)Ccg>Gcg p.P659A NM_020338.3 NP_065071.1 Q9ULJ6 ZMIZ1_HUMAN zinc finger, MIZ-type containing 1 659 transcription, DNA-dependent cytoplasm|nuclear speck zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1) 30 all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985) Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229) CGTGTGCCAGCCGGGCCGCAA 0.667000 36 73 0 0 1 0 0 NINL 22981 broad.mit.edu 37 20 25507167 25507167 + Silent SNP G G A TCGA-EM-A3O3-01A-11D-A21Z-08 TCGA-EM-A3O3-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdb360bf-44b7-4550-80df-f34bcddbcb0c 69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c g.chr20:25507167G>A ENST00000278886.6 - 2 130 c.57C>T c.(55-57)tgC>tgT p.C19C NINL_ENST00000422516.1_Silent_p.C19C NM_025176.4 NP_079452.3 Q9Y2I6 NINL_HUMAN ninein-like 19 EF-hand 1. G2/M transition of mitotic cell cycle cytosol|microtubule|microtubule organizing center calcium ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 57 CCGTGGTGTCGCAGCTGCTGT 0.577000 48 66 0 0 1 0 0 ZFYVE27 118813 broad.mit.edu 37 10 99498333 99498333 + Silent SNP A A G TCGA-EM-A3O3-01A-11D-A21Z-08 TCGA-EM-A3O3-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdb360bf-44b7-4550-80df-f34bcddbcb0c 69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c g.chr10:99498333A>G ENST00000393677.4 + 2 303 c.99A>G c.(97-99)ccA>ccG p.P33P ZFYVE27_ENST00000356257.4_Silent_p.P33P|ZFYVE27_ENST00000357540.4_Silent_p.P33P|ZFYVE27_ENST00000359980.3_Silent_p.P33P|ZFYVE27_ENST00000337540.7_Silent_p.P33P|ZFYVE27_ENST00000370613.3_Silent_p.P33P|ZFYVE27_ENST00000453958.2_Silent_p.P33P|ZFYVE27_ENST00000370610.3_Intron NM_144588.6 NP_653189.3 Q5T4F4 ZFY27_HUMAN zinc finger, FYVE domain containing 27 33 cell death|nerve growth factor receptor signaling pathway|neuron projection development|protein localization in plasma membrane axon|dendrite|endoplasmic reticulum membrane|growth cone membrane|integral to membrane|recycling endosome membrane metal ion binding|protein binding endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1) 8 Colorectal(252;0.0846) Epithelial(162;7.08e-10)|all cancers(201;5.18e-08) CCAAGTCCCCAGCGTTTGACC 0.562000 28 60 0 0 1 0 0 C7orf57 136288 broad.mit.edu 37 7 48086188 48086188 + Missense_Mutation SNP A A C TCGA-EM-A3O3-01A-11D-A21Z-08 TCGA-EM-A3O3-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdb360bf-44b7-4550-80df-f34bcddbcb0c 69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c g.chr7:48086188A>C ENST00000348904.3 + 5 694 c.482A>C c.(481-483)gAg>gCg p.E161A C7orf57_ENST00000435376.1_Missense_Mutation_p.E39A|C7orf57_ENST00000539619.1_Missense_Mutation_p.E161A|C7orf57_ENST00000420324.1_Missense_Mutation_p.E206A|C7orf57_ENST00000430738.1_Missense_Mutation_p.E206A NM_001100159.2 NP_001093629.1 Q8NEG2 CG057_HUMAN chromosome 7 open reading frame 57 161 breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1) 9 AGAGAGGCTGAGGAACTTGAA 0.463000 5 12 0 0 1 0 0 OR10G4 390264 broad.mit.edu 37 11 123886643 123886643 + Missense_Mutation SNP G G A TCGA-EM-A3O3-01A-11D-A21Z-08 TCGA-EM-A3O3-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdb360bf-44b7-4550-80df-f34bcddbcb0c 69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c g.chr11:123886643G>A ENST00000320891.4 + 1 362 c.362G>A c.(361-363)cGc>cAc p.R121H NM_001004462.1 NP_001004462.1 Q8NGN3 O10G4_HUMAN olfactory receptor, family 10, subfamily G, member 4 121 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1) 48 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401) TCCTATGATCGCTACTTGGCC 0.572000 33 118 0 0 1 0 0 PCGF2 7703 broad.mit.edu 37 17 36895858 36895858 + Missense_Mutation SNP G G A TCGA-EM-A3O3-01A-11D-A21Z-08 TCGA-EM-A3O3-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdb360bf-44b7-4550-80df-f34bcddbcb0c 69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c g.chr17:36895858G>A ENST00000580830.1 - 5 891 c.190C>T c.(190-192)Cgg>Tgg p.R64W PCGF2_ENST00000579882.1_Missense_Mutation_p.R64W|PCGF2_ENST00000360797.2_Missense_Mutation_p.R64W|PCGF2_ENST00000578109.1_Missense_Mutation_p.R10W|PCGF2_ENST00000581345.1_Missense_Mutation_p.R64W|PCGF2_ENST00000585100.1_Missense_Mutation_p.R64W P35227 PCGF2_HUMAN polycomb group ring finger 2 64 negative regulation of transcription from RNA polymerase II promoter PcG protein complex DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.R64W(1) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1) 10 Breast(7;9.07e-22) AGCAGCGGCCGGGTTTTATGG 0.617000 32 96 0 0 1 0 0 SCAF1 58506 broad.mit.edu 37 19 50154329 50154329 + Missense_Mutation SNP A A G TCGA-EM-A3O3-01A-11D-A21Z-08 TCGA-EM-A3O3-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdb360bf-44b7-4550-80df-f34bcddbcb0c 69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c g.chr19:50154329A>G ENST00000360565.3 + 7 807 c.683A>G c.(682-684)tAt>tGt p.Y228C NM_021228.2 NP_067051.2 Q9H7N4 SFR19_HUMAN SR-related CTD-associated factor 1 228 Pro-rich. mRNA processing|RNA splicing nucleus RNA binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 20 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204) TTCGATATCTATGACCCCTTC 0.657000 27 52 0 0 1 0 0 ZNF613 79898 broad.mit.edu 37 19 52443516 52443516 + Missense_Mutation SNP C C T TCGA-EM-A3O3-01A-11D-A21Z-08 TCGA-EM-A3O3-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdb360bf-44b7-4550-80df-f34bcddbcb0c 69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c g.chr19:52443516C>T ENST00000293471.6 + 4 749 c.70C>T c.(70-72)Ctc>Ttc p.L24F ZNF613_ENST00000391794.4_5'UTR NM_001031721.3 NP_001026891.2 Q6PF04 ZN613_HUMAN zinc finger protein 613 24 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1) 19 all_neural(266;0.117) GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183) GGAGTGGCAGCTCCTCGGCCC 0.512000 52 78 0 0 1 0 0 BTBD3 22903 broad.mit.edu 37 20 11904148 11904148 + Missense_Mutation SNP C C T TCGA-EM-A3O3-01A-11D-A21Z-08 TCGA-EM-A3O3-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdb360bf-44b7-4550-80df-f34bcddbcb0c 69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c g.chr20:11904148C>T ENST00000405977.1 + 5 2028 c.1403C>T c.(1402-1404)aCa>aTa p.T468I BTBD3_ENST00000254977.3_Missense_Mutation_p.T407I|BTBD3_ENST00000399006.2_Missense_Mutation_p.T407I|BTBD3_ENST00000378226.2_Missense_Mutation_p.T468I Q9Y2F9 BTBD3_HUMAN BTB (POZ) domain containing 3 468 breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(18)|ovary(3)|skin(2) 34 ACCTTCTACACAGCCAGTGTG 0.493000 10 33 0 0 1 0 0 ZNF860 344787 broad.mit.edu 37 3 32031962 32031962 + Missense_Mutation SNP A A G rs1808125 by1000genomes TCGA-EM-A3O3-01A-11D-A21Z-08 TCGA-EM-A3O3-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdb360bf-44b7-4550-80df-f34bcddbcb0c 69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c g.chr3:32031962A>G ENST00000360311.4 + 2 1940 c.1391A>G c.(1390-1392)cAt>cGt p.H464R NM_001137674.2 NP_001131146.2 A6NHJ4 ZN860_HUMAN zinc finger protein 860 464 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|lung(4)|ovary(1) 8 AAGACCTTCCATCACAATTCA 0.418000 4 50 0 0 1 0 0 ZAN 7455 broad.mit.edu 37 7 100349973 100349973 + RNA SNP A A C TCGA-EM-A3O3-01A-11D-A21Z-08 TCGA-EM-A3O3-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdb360bf-44b7-4550-80df-f34bcddbcb0c 69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c g.chr7:100349973A>C ENST00000542585.1 + 0 2393 ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000348028.3_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) CACCATCCCCACAGAAAAACC 0.517000 6 147 0 0 1 0 0 C1orf56 54964 broad.mit.edu 37 1 151020356 151020356 + Silent SNP C C T TCGA-EM-A3O3-01A-11D-A21Z-08 TCGA-EM-A3O3-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdb360bf-44b7-4550-80df-f34bcddbcb0c 69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c g.chr1:151020356C>T ENST00000368926.5 + 1 141 c.33C>T c.(31-33)gtC>gtT p.V11V NM_017860.3 NP_060330.2 Q9BUN1 CA056_HUMAN chromosome 1 open reading frame 56 11 extracellular region endometrium(1)|kidney(1)|lung(3)|ovary(1)|prostate(1) 7 Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) TGCTGTGGGTCCTGCTGCTGA 0.697000 9 31 0 0 1 0 0 DSTYK 25778 broad.mit.edu 37 1 205138578 205138578 + Missense_Mutation SNP A A T TCGA-EM-A3O3-01A-11D-A21Z-08 TCGA-EM-A3O3-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdb360bf-44b7-4550-80df-f34bcddbcb0c 69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c g.chr1:205138578A>T ENST00000367162.3 - 3 1067 c.1037T>A c.(1036-1038)tTt>tAt p.F346Y DSTYK_ENST00000367161.3_Missense_Mutation_p.F346Y|DSTYK_ENST00000367160.4_Missense_Mutation_p.F346Y NM_015375.2 NP_056190.1 Q6XUX3 DUSTY_HUMAN dual serine/threonine and tyrosine protein kinase 346 cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2) 14 CTGGTGAGAAAATGTGCTCAA 0.522000 5 101 0 0 1 0 0 CRNN 49860 broad.mit.edu 37 1 152382520 152382520 + Silent SNP G G A TCGA-EM-A3O3-01A-11D-A21Z-08 TCGA-EM-A3O3-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdb360bf-44b7-4550-80df-f34bcddbcb0c 69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c g.chr1:152382520G>A ENST00000271835.3 - 3 1100 c.1038C>T c.(1036-1038)caC>caT p.H346H RP1-91G5.3_ENST00000411804.1_RNA NM_016190.2 NP_057274.1 Q9UBG3 CRNN_HUMAN cornulin 346 Gln-rich. cell-cell adhesion|response to heat cytoplasm|membrane calcium ion binding breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) GTATCTGAGTGTGTCCTCCTG 0.597000 8 364 0 0 1 0 0 FLT3LG 0 broad.mit.edu 37 19 49979779 49979779 + Missense_Mutation SNP C C T TCGA-EM-A3O3-01A-11D-A21Z-08 TCGA-EM-A3O3-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdb360bf-44b7-4550-80df-f34bcddbcb0c 69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c g.chr19:49979779C>T ENST00000595510.1 + 4 353 c.52C>T c.(52-54)Cgc>Tgc p.R18C FLT3LG_ENST00000344019.3_Missense_Mutation_p.R100C|FLT3LG_ENST00000594009.1_Missense_Mutation_p.R100C|FLT3LG_ENST00000204637.2_Missense_Mutation_p.R18C|FLT3LG_ENST00000597551.1_Missense_Mutation_p.R100C|FLT3LG_ENST00000595815.1_3'UTR|FLT3LG_ENST00000596435.1_Missense_Mutation_p.R100C|CTD-3148I10.9_ENST00000599536.1_Intron|FLT3LG_ENST00000600429.1_Missense_Mutation_p.R100C P49771 FLT3L_HUMAN fms-related tyrosine kinase 3 ligand 100 positive regulation of cell proliferation|signal transduction extracellular space|integral to membrane|plasma membrane|soluble fraction cytokine activity large_intestine(2)|lung(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 10 all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246) CTTGCTGGAGCGCGTGAACAC 0.592000 OREG0025623 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 13 51 0 0 1 0 0 PRB2 653247 broad.mit.edu 37 12 11546430 11546430 + Silent SNP G G A TCGA-EM-A3O3-01A-11D-A21Z-08 TCGA-EM-A3O3-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdb360bf-44b7-4550-80df-f34bcddbcb0c 69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c g.chr12:11546430G>A ENST00000389362.4 - 3 617 c.582C>T c.(580-582)ccC>ccT p.P194P PRB1_ENST00000546254.1_Intron NM_006248.3 NP_006239.3 proline-rich protein BstNI subfamily 2 NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1) 37 all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09) OV - Ovarian serous cystadenocarcinoma(49;0.185) GAGGAGGTGGGGGACCTTGGG 0.607000 6 224 0 0 1 0 0 AC006293.3 0 broad.mit.edu 37 19 55221570 55221570 + RNA SNP A A C TCGA-EM-A3O3-01A-11D-A21Z-08 TCGA-EM-A3O3-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdb360bf-44b7-4550-80df-f34bcddbcb0c 69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c g.chr19:55221570A>C ENST00000413439.1 + 0 1350 TACAGATGCTACGGTGCACAC 0.677000 4 87 0 0 1 0 0 ZNF714 148206 broad.mit.edu 37 19 21301008 21301008 + Missense_Mutation SNP A A G TCGA-EM-A3O3-01A-11D-A21Z-08 TCGA-EM-A3O3-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdb360bf-44b7-4550-80df-f34bcddbcb0c 69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c g.chr19:21301008A>G ENST00000596143.1 + 5 1863 c.1538A>G c.(1537-1539)aAc>aGc p.N513S ZNF714_ENST00000601416.1_3'UTR|ZNF714_ENST00000596053.1_Intron|ZNF714_ENST00000291770.7_3'UTR NM_182515.3 NP_872321.2 Q96N38 ZN714_HUMAN zinc finger protein 714 514 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(3)|lung(11)|urinary_tract(2) 18 tgtaatcccaacactttgaga 0.428000 3 15 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228465534 228465534 + Silent SNP A A G TCGA-EM-A3O3-01A-11D-A21Z-08 TCGA-EM-A3O3-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdb360bf-44b7-4550-80df-f34bcddbcb0c 69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c g.chr1:228465534A>G ENST00000570156.2 + 30 8195 c.8121A>G c.(8119-8121)gaA>gaG p.E2707E OBSCN_ENST00000284548.11_Silent_p.E2278E|OBSCN_ENST00000422127.1_Silent_p.E2278E|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000359599.6_Silent_p.E1125E|OBSCN_ENST00000366709.4_5'UTR NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 1704 Ig-like 26. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) AAAATGCAGAATCGCGAGCCC 0.617000 26 195 0 0 1 0 0 NFATC1 4772 broad.mit.edu 37 18 77171140 77171140 + Missense_Mutation SNP G G A TCGA-EM-A3O3-01A-11D-A21Z-08 TCGA-EM-A3O3-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdb360bf-44b7-4550-80df-f34bcddbcb0c 69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c g.chr18:77171140G>A ENST00000253506.5 + 2 1234 c.865G>A c.(865-867)Ggc>Agc p.G289S NFATC1_ENST00000397790.2_Intron|NFATC1_ENST00000587635.1_Missense_Mutation_p.G289S|NFATC1_ENST00000592223.1_Missense_Mutation_p.G276S|NFATC1_ENST00000329101.4_Missense_Mutation_p.G276S|NFATC1_ENST00000591814.1_Missense_Mutation_p.G289S|NFATC1_ENST00000586434.1_Missense_Mutation_p.G276S|NFATC1_ENST00000545796.1_Intron|NFATC1_ENST00000542384.1_Missense_Mutation_p.G289S|NFATC1_ENST00000318065.5_Missense_Mutation_p.G276S|NFATC1_ENST00000427363.2_Missense_Mutation_p.G289S NM_006162.3 NP_006153.2 O95644 NFAC1_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1 289 3 X SP repeats. intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleus FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1) 40 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257) GTCCCCGCACGGCTCCCCGCG 0.687000 39 64 0 0 1 0 0 MT-ND1 4535 broad.mit.edu 37 MT 3608 3608 + Missense_Mutation SNP G G A TCGA-EM-A3O3-01A-11D-A21Z-08 TCGA-EM-A3O3-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdb360bf-44b7-4550-80df-f34bcddbcb0c 69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c g.chrM:3608G>A ENST00000361390.2 + 1 302 c.302G>A c.(301-303)gGc>gAc p.101_101insD mitochondrially encoded NADH dehydrogenase 1 breast(1)|endometrium(13)|kidney(17)|lung(2)|prostate(1) 34 CCTCAACCTAGGCCTCCTATT 0.547000 20 33 0 0 1 0 0 STAB2 55576 broad.mit.edu 37 12 104153016 104153016 + Missense_Mutation SNP C C A TCGA-EM-A3O3-01A-11D-A21Z-08 TCGA-EM-A3O3-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdb360bf-44b7-4550-80df-f34bcddbcb0c 69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c g.chr12:104153016C>A ENST00000388887.2 + 65 7417 c.7213C>A c.(7213-7215)Ctg>Atg p.L2405M RP11-341G23.4_ENST00000551299.1_RNA NM_017564.9 NP_060034.9 Q8WWQ8 STAB2_HUMAN stabilin 2 2405 FAS1 7. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 GGGAAGCAAGCTGCTCATCAC 0.547000 23 49 1.28384e-07 1.3039e-07 1 1 0 HK3 3101 broad.mit.edu 37 5 176311066 176311066 + Silent SNP A A G TCGA-EM-A3O3-01A-11D-A21Z-08 TCGA-EM-A3O3-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdb360bf-44b7-4550-80df-f34bcddbcb0c 69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c g.chr5:176311066A>G ENST00000292432.5 - 14 2018 c.1927T>C c.(1927-1929)Ttg>Ctg p.L643L NM_002115.2 NP_002106.2 P52790 HXK3_HUMAN hexokinase 3 (white cell) 643 Catalytic. glucose transport|glycolysis|transmembrane transport cytosol|membrane ATP binding|glucokinase activity breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115) Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GCTTCCCGCAACAGACTCACG 0.577000 47 81 0 0 1 0 0 CPS1 1373 broad.mit.edu 37 2 211457603 211457603 + Splice_Site SNP G G A TCGA-EM-A3O3-01A-11D-A21Z-08 TCGA-EM-A3O3-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdb360bf-44b7-4550-80df-f34bcddbcb0c 69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c g.chr2:211457603G>A ENST00000233072.5 + 11 1283 c.1086_splice c.e11-1 p.G363_splice CPS1_ENST00000430249.2_Splice_Site_p.G369_splice NM_001875.4 NP_001866.2 P31327 CPSM_HUMAN carbamoyl-phosphate synthase 1, mitochondrial 363 Glutamine amidotransferase type-1. carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle mitochondrial nucleoid ATP binding|carbamoyl-phosphate synthase (ammonia) activity breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 142 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) ATTCCTTTAGGGGATTATGCA 0.423000 26 58 0 0 1 0 0 OR5D13 390142 broad.mit.edu 37 11 55541409 55541409 + Missense_Mutation SNP C C A TCGA-EM-A3O3-01A-11D-A21Z-08 TCGA-EM-A3O3-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdb360bf-44b7-4550-80df-f34bcddbcb0c 69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c g.chr11:55541409C>A ENST00000361760.1 + 1 496 c.496C>A c.(496-498)Ctt>Att p.L166I NM_001001967.1 NP_001001967.1 Q8NGL4 OR5DD_HUMAN olfactory receptor, family 5, subfamily D, member 13 166 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1) 40 all_epithelial(135;0.196) ATATTTTCTTCTTGACTTATC 0.423000 24 65 1.64293e-13 1.69509e-13 1 1 0 SOAT1 6646 broad.mit.edu 37 1 179310209 179310209 + Missense_Mutation SNP C C T TCGA-EM-A3O3-01A-11D-A21Z-08 TCGA-EM-A3O3-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdb360bf-44b7-4550-80df-f34bcddbcb0c 69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c g.chr1:179310209C>T ENST00000367619.3 + 7 687 c.544C>T c.(544-546)Cct>Tct p.P182S SOAT1_ENST00000539888.1_Missense_Mutation_p.P117S|SOAT1_ENST00000540564.1_Missense_Mutation_p.P124S|SOAT1_ENST00000535686.1_5'UTR NM_003101.5 NP_003092.4 P35610 SOAT1_HUMAN sterol O-acyltransferase 1 182 cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly endoplasmic reticulum membrane|integral to membrane|microsome cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1) 20 Ezetimibe(DB00973)|Hesperetin(DB01094) TGGCAAATTTCCTACCGTTGT 0.418000 43 48 0 0 1 0 0 CPS1 1373 broad.mit.edu 37 2 211457604 211457604 + Splice_Site SNP G G A TCGA-EM-A3O3-01A-11D-A21Z-08 TCGA-EM-A3O3-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdb360bf-44b7-4550-80df-f34bcddbcb0c 69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c g.chr2:211457604G>A ENST00000233072.5 + 11 1284 c.1086_splice c.e11-1 p.G363_splice CPS1_ENST00000430249.2_Splice_Site_p.G369_splice NM_001875.4 NP_001866.2 P31327 CPSM_HUMAN carbamoyl-phosphate synthase 1, mitochondrial 363 Glutamine amidotransferase type-1. carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle mitochondrial nucleoid ATP binding|carbamoyl-phosphate synthase (ammonia) activity breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 142 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) TTCCTTTAGGGGATTATGCAT 0.423000 27 59 0 0 1 0 0 PKHD1 5314 broad.mit.edu 37 6 51921515 51921515 + Silent SNP G G A TCGA-EM-A3O3-01A-11D-A21Z-08 TCGA-EM-A3O3-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdb360bf-44b7-4550-80df-f34bcddbcb0c 69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c g.chr6:51921515G>A ENST00000371117.3 - 18 1949 c.1674C>T c.(1672-1674)ctC>ctT p.L558L PKHD1_ENST00000340994.4_Silent_p.L558L NM_138694.3 NP_619639.3 P08F94 PKHD1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive) 558 cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) ATCCAAGCCGGAGAAGGATGT 0.393000 24 54 0 0 1 0 0 DDX42 11325 broad.mit.edu 37 17 61885116 61885116 + Missense_Mutation SNP G G A TCGA-EM-A3O3-01A-11D-A21Z-08 TCGA-EM-A3O3-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdb360bf-44b7-4550-80df-f34bcddbcb0c 69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c g.chr17:61885116G>A ENST00000578681.1 + 10 1480 c.879G>A c.(877-879)atG>atA p.M293I DDX42_ENST00000583590.1_Missense_Mutation_p.M293I|DDX42_ENST00000457800.2_Missense_Mutation_p.M293I|DDX42_ENST00000389924.2_Missense_Mutation_p.M293I|DDX42_ENST00000359353.5_Missense_Mutation_p.M174I NM_007372.2 NP_031398.2 Q86XP3 DDX42_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 42 293 Helicase ATP-binding. protein localization|regulation of anti-apoptosis Cajal body|cytoplasm|nuclear speck ATP binding|ATP-dependent helicase activity|protein binding|RNA binding NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3) 46 GTAGAGACATGATTGGTATTG 0.413000 37 76 0 0 1 0 0 TCHH 7062 broad.mit.edu 37 1 152082180 152082180 + Silent SNP G G C TCGA-EM-A3O3-01A-11D-A21Z-08 TCGA-EM-A3O3-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdb360bf-44b7-4550-80df-f34bcddbcb0c 69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c g.chr1:152082180G>C ENST00000368804.1 - 2 3512 c.3513C>G c.(3511-3513)cgC>cgG p.R1171R NM_007113.2 NP_009044.2 Q07283 TRHY_HUMAN trichohyalin 1171 10 X 30 AA tandem repeats. keratinization cytoskeleton calcium ion binding p.R1171R(1) NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4) 105 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) cctcttcctcGCGGTATTGCC 0.607000 7 213 0 0 1 0 0 CASP6 839 broad.mit.edu 37 4 110617580 110617580 + Missense_Mutation SNP A A T TCGA-EM-A3O3-01A-11D-A21Z-08 TCGA-EM-A3O3-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdb360bf-44b7-4550-80df-f34bcddbcb0c 69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c g.chr4:110617580A>T ENST00000265164.2 - 4 370 c.293T>A c.(292-294)cTc>cAc p.L98H CASP6_ENST00000352981.3_Intron|CASP6_ENST00000505486.1_Intron NM_001226.3 NP_001217.2 P55212 CASP6_HUMAN caspase 6, apoptosis-related cysteine peptidase 98 cellular component disassembly involved in apoptosis|induction of apoptosis|proteolysis cytosol|nucleoplasm cysteine-type endopeptidase activity|protein binding breast(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1) 8 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000171) ATGAATTTTGAGCAGTAGTTC 0.328000 13 15 0 0 1 0 0 TRPV3 162514 broad.mit.edu 37 17 3438882 3438882 + Missense_Mutation SNP C C G TCGA-EM-A3O3-01A-11D-A21Z-08 TCGA-EM-A3O3-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdb360bf-44b7-4550-80df-f34bcddbcb0c 69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c g.chr17:3438882C>G ENST00000301365.4 - 7 900 c.769G>C c.(769-771)Gaa>Caa p.E257Q TRPV3_ENST00000576742.1_Missense_Mutation_p.E257Q|TRPV3_ENST00000572519.1_Missense_Mutation_p.E257Q Q8NET8 TRPV3_HUMAN transient receptor potential cation channel, subfamily V, member 3 257 integral to membrane calcium channel activity breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 35 Menthol(DB00825) TAGAAGCCTTCGTGTTGGTAC 0.692000 20 38 0 0 1 0 0 KIAA1755 85449 broad.mit.edu 37 20 36869104 36869104 + Missense_Mutation SNP T T C TCGA-EM-A3O3-01A-11D-A21Z-08 TCGA-EM-A3O3-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdb360bf-44b7-4550-80df-f34bcddbcb0c 69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c g.chr20:36869104T>C ENST00000279024.4 - 3 1700 c.1429A>G c.(1429-1431)Aga>Gga p.R477G NM_001029864.1 NP_001025035.1 Q5JYT7 K1755_HUMAN KIAA1755 477 breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1) 54 Myeloproliferative disorder(115;0.00874) CTCTGCCCTCTCAAGAATGAG 0.572000 4 51 0 0 1 0 0 HDGFRP2 0 broad.mit.edu 37 19 4498373 4498373 + Splice_Site SNP G G A TCGA-EM-A3O3-01A-11D-A21Z-08 TCGA-EM-A3O3-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdb360bf-44b7-4550-80df-f34bcddbcb0c 69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c g.chr19:4498373G>A ENST00000301284.4 + 12 1537 c.1473_splice c.e12+1 p.P491_splice HDGFRP2_ENST00000586684.1_Splice_Site_p.P491_splice NM_001001520.1|NM_032631.2 NP_001001520.1|NP_116020.1 Q7Z4V5 HDGR2_HUMAN 491 transcription, DNA-dependent nucleus DNA binding|protein binding TCGACAGCCCGGTAAGACCCT 0.627000 7 16 0 0 1 0 0 CCDC157 550631 broad.mit.edu 37 22 30772567 30772567 + Missense_Mutation SNP T T C TCGA-EM-A3O3-01A-11D-A21Z-08 TCGA-EM-A3O3-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdb360bf-44b7-4550-80df-f34bcddbcb0c 69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c g.chr22:30772567T>C ENST00000405659.1 + 12 2801 c.2092T>C c.(2092-2094)Tct>Cct p.S698P CCDC157_ENST00000338306.3_Missense_Mutation_p.S698P|RP1-130H16.16_ENST00000332468.4_RNA Q569K6 CC157_HUMAN coiled-coil domain containing 157 698 central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(1) 15 CACATCCCCATCTCGGCAGCC 0.667000 8 287 0 0 1 0 0 GULP1 51454 broad.mit.edu 37 2 189452645 189452645 + Missense_Mutation SNP C C T TCGA-EM-A3O3-01A-11D-A21Z-08 TCGA-EM-A3O3-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdb360bf-44b7-4550-80df-f34bcddbcb0c 69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c g.chr2:189452645C>T ENST00000409580.1 + 12 1526 c.812C>T c.(811-813)cCa>cTa p.P271L GULP1_ENST00000409830.1_Missense_Mutation_p.P271L|GULP1_ENST00000359135.3_Missense_Mutation_p.P271L|GULP1_ENST00000409805.1_Missense_Mutation_p.P168L|GULP1_ENST00000409609.1_Missense_Mutation_p.P271L|GULP1_ENST00000409843.1_Missense_Mutation_p.P271L Q9UBP9 GULP1_HUMAN GULP, engulfment adaptor PTB domain containing 1 271 apoptosis|lipid transport|phagocytosis, engulfment cytoplasm|intracellular membrane-bounded organelle signal transducer activity endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(2) 13 OV - Ovarian serous cystadenocarcinoma(117;0.0423)|Epithelial(96;0.158) GATTTCCCTCCAGATATTCAA 0.358000 16 33 0 0 1 0 0 MUC5B 727897 broad.mit.edu 37 11 1269180 1269180 + Silent SNP C C A TCGA-EM-A3O3-01A-11D-A21Z-08 TCGA-EM-A3O3-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdb360bf-44b7-4550-80df-f34bcddbcb0c 69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c g.chr11:1269180C>A ENST00000447027.1 + 31 11137 c.11079C>A c.(11077-11079)acC>acA p.T3693T MUC5B_ENST00000529681.1_Silent_p.T3690T|RP11-532E4.2_ENST00000532061.2_RNA Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 3690 11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich. Missing (in Ref. 6; AAB61398). cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) CGGGGACGACCTGGATCCTCA 0.622000 123 245 6.82392e-85 7.15411e-85 1 1 0 FAM101B 359845 broad.mit.edu 37 17 293075 293075 + Silent SNP C C T TCGA-EM-A3O3-01A-11D-A21Z-08 TCGA-EM-A3O3-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdb360bf-44b7-4550-80df-f34bcddbcb0c 69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c g.chr17:293075C>T ENST00000329099.4 - 2 314 c.315G>A c.(313-315)aaG>aaA p.K105K NM_182705.2 NP_874364.1 Q8N5W9 F101B_HUMAN family with sequence similarity 101, member B 175 breast(1)|endometrium(3)|large_intestine(2)|lung(4)|prostate(1)|stomach(1)|urinary_tract(1) 13 Myeloproliferative disorder(207;0.204) UCEC - Uterine corpus endometrioid carcinoma (25;0.0216) TGTAGACGGCCTTGGGGTACT 0.642000 16 36 0 0 1 0 0 ZNF497 162968 broad.mit.edu 37 19 58868467 58868467 + Missense_Mutation SNP G G C TCGA-EM-A3O3-01A-11D-A21Z-08 TCGA-EM-A3O3-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdb360bf-44b7-4550-80df-f34bcddbcb0c 69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c g.chr19:58868467G>C ENST00000311044.3 - 3 723 c.535C>G c.(535-537)Cac>Gac p.H179D CTD-2619J13.8_ENST00000599109.1_RNA|ZNF497_ENST00000425453.3_Missense_Mutation_p.H179D NM_198458.2 NP_940860.2 Q6ZNH5 ZN497_HUMAN zinc finger protein 497 179 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(2)|lung(3)|skin(2) 7 all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0278) TCCTGGTGGTGGATGAGCTGC 0.677000 8 22 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-EM-A3O3-01A-11D-A21Z-08 TCGA-EM-A3O3-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdb360bf-44b7-4550-80df-f34bcddbcb0c 69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c 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 17 32 0 0 1 0 0 ITGB8 3696 broad.mit.edu 37 7 20403260 20403260 + Splice_Site SNP A A C TCGA-EM-A3O3-01A-11D-A21Z-08 TCGA-EM-A3O3-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdb360bf-44b7-4550-80df-f34bcddbcb0c 69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c g.chr7:20403260A>C ENST00000222573.3 + 2 812 c.127_splice c.e2-1 p.E43_splice ITGB8_ENST00000537992.1_5'UTR NM_002214.2 NP_002205.1 P26012 ITB8_HUMAN integrin, beta 8 43 cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development integrin complex protein binding|receptor activity NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1) 37 TTCATTGCAGAAGACAATAGA 0.368000 8 15 0 0 1 0 0 BRAT1 221927 broad.mit.edu 37 7 2582951 2582951 + Silent SNP G G A TCGA-EM-A3O3-01A-11D-A21Z-08 TCGA-EM-A3O3-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdb360bf-44b7-4550-80df-f34bcddbcb0c 69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c g.chr7:2582951G>A ENST00000340611.4 - 6 1066 c.810C>T c.(808-810)ccC>ccT p.P270P NM_152743.3 NP_689956.2 Q6PJG6 BRAT1_HUMAN BRCA1-associated ATM activator 1 270 response to ionizing radiation nucleus protein binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 23 AACTGAACACGGGAGAACTGC 0.627000 28 51 0 0 1 0 0 UBBP4 0 broad.mit.edu 37 17 21731144 21731144 + Missense_Mutation SNP T T G rs149119138 by1000genomes TCGA-EM-A3O3-01A-11D-A21Z-08 TCGA-EM-A3O3-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdb360bf-44b7-4550-80df-f34bcddbcb0c 69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c g.chr17:21731144T>G ENST00000584755.1 + 2 843 c.446T>G c.(445-447)cTg>cGg p.L149R UBBP4_ENST00000584398.1_3'UTR|UBBP4_ENST00000578713.1_Missense_Mutation_p.L149R|UBBP4_ENST00000583708.1_3'UTR p.L149R(18) endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 GTCCTGCGTCTGAGAGGTGGT 0.542000 3 78 0 0 1 0 0 OTUD7B 56957 broad.mit.edu 37 1 149943019 149943019 + Silent SNP G G A TCGA-EM-A3O3-01A-11D-A21Z-08 TCGA-EM-A3O3-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdb360bf-44b7-4550-80df-f34bcddbcb0c 69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c g.chr1:149943019G>A ENST00000369135.3 - 3 540 c.246C>T c.(244-246)atC>atT p.I82I OTUD7B_ENST00000479905.1_5'UTR NM_020205.2 NP_064590.2 Q6GQQ9 OTU7B_HUMAN OTU domain containing 7B 82 negative regulation of I-kappaB kinase/NF-kappaB cascade cytoplasm|microtubule cytoskeleton|nucleus cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247) GCCGCTGGAGGATGGGTCGGG 0.532000 8 141 0 0 1 0 0 ZAN 7455 broad.mit.edu 37 7 100349878 100349878 + RNA SNP C C T TCGA-EM-A3O3-01A-11D-A21Z-08 TCGA-EM-A3O3-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdb360bf-44b7-4550-80df-f34bcddbcb0c 69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c g.chr7:100349878C>T ENST00000542585.1 + 0 2298 ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000348028.3_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane p.P717L(2) NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) CCAGAAAAACCCACCATCCCC 0.507000 7 134 0 0 1 0 0 SMG7 9887 broad.mit.edu 37 1 183520210 183520210 + Missense_Mutation SNP C C T TCGA-EM-A3O3-01A-11D-A21Z-08 TCGA-EM-A3O3-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdb360bf-44b7-4550-80df-f34bcddbcb0c 69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c g.chr1:183520210C>T ENST00000367537.3 + 23 3479 c.3284C>T c.(3283-3285)tCa>tTa p.S1095L SMG7_ENST00000456731.2_Missense_Mutation_p.S974L|SMG7_ENST00000347615.2_Missense_Mutation_p.S1062L|SMG7_ENST00000515829.2_Missense_Mutation_p.S1016L|SMG7_ENST00000507469.1_Missense_Mutation_p.S1066L|SMG7_ENST00000508461.1_Missense_Mutation_p.S1070L Q92540 SMG7_HUMAN SMG7 nonsense mediated mRNA decay factor 1062 mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation cytoplasm|intermediate filament cytoskeleton|nucleus protein phosphatase 2A binding breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 GATTATCTCTCAGCAACGTCA 0.517000 16 56 0 0 1 0 0 CRNN 49860 broad.mit.edu 37 1 152382519 152382519 + Missense_Mutation SNP T T C TCGA-EM-A3O3-01A-11D-A21Z-08 TCGA-EM-A3O3-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdb360bf-44b7-4550-80df-f34bcddbcb0c 69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c g.chr1:152382519T>C ENST00000271835.3 - 3 1101 c.1039A>G c.(1039-1041)Act>Gct p.T347A RP1-91G5.3_ENST00000411804.1_RNA NM_016190.2 NP_057274.1 Q9UBG3 CRNN_HUMAN cornulin 347 Gln-rich. cell-cell adhesion|response to heat cytoplasm|membrane calcium ion binding breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) TGTATCTGAGTGTGTCCTCCT 0.592000 9 362 0 0 1 0 0 BDP1 55814 broad.mit.edu 37 5 70800541 70800541 + Nonsense_Mutation SNP C C T TCGA-EM-A3O3-01A-11D-A21Z-08 TCGA-EM-A3O3-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdb360bf-44b7-4550-80df-f34bcddbcb0c 69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c g.chr5:70800541C>T ENST00000358731.4 + 16 2598 c.2335C>T c.(2335-2337)Cag>Tag p.Q779* BDP1_ENST00000380675.2_5'UTR NM_018429.2 NP_060899.2 A6H8Y1 BDP1_HUMAN B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB 779 regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm DNA binding NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50) TCAAAATGTGCAGCCAGATGA 0.333000 11 27 0 0 1 0 0 COL11A1 1301 broad.mit.edu 37 1 103355065 103355065 + Frame_Shift_Del DEL T T - TCGA-EM-A3O3-01A-11D-A21Z-08 TCGA-EM-A3O3-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdb360bf-44b7-4550-80df-f34bcddbcb0c 69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c g.chr1:103355065delT ENST00000358392.2 - 59 4763 c.4446delA c.(4444-4446)aafs p.K1482fs COL11A1_ENST00000370096.3_Frame_Shift_Del_p.K1470fs|COL11A1_ENST00000353414.4_Frame_Shift_Del_p.K1431fs|COL11A1_ENST00000512756.1_Frame_Shift_Del_p.K1354fs NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 1470 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) CTCGGTCACCTTTTTCCCCTT 0.408 7 157 --- --- --- --- PRG4 10216 broad.mit.edu 37 1 186276374 186276376 + In_Frame_Del DEL CCA CCA - TCGA-EM-A3O3-01A-11D-A21Z-08 TCGA-EM-A3O3-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdb360bf-44b7-4550-80df-f34bcddbcb0c 69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c g.chr1:186276374_186276376delCCA ENST00000445192.2 + 7 1568_1570 c.1523_1525delCCA c.(1522-1527)ccc>c p.PT508del PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_In_Frame_Del_p.PT467del|PRG4_ENST00000367485.4_In_Frame_Del_p.PT415del|PRG4_ENST00000367486.3_In_Frame_Del_p.PT465del NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 508 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity p.P508H(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 GAGCCTGCACCCACCACCACCAA 0.645 12 622 --- --- --- --- PRG4 10216 broad.mit.edu 37 1 186276524 186276526 + In_Frame_Del DEL AGG AGG - TCGA-EM-A3O3-01A-11D-A21Z-08 TCGA-EM-A3O3-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdb360bf-44b7-4550-80df-f34bcddbcb0c 69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c g.chr1:186276524_186276526delAGG ENST00000445192.2 + 7 1718_1720 c.1673_1675delAGG c.(1672-1677)aag>a p.KE558del PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_In_Frame_Del_p.KE517del|PRG4_ENST00000367485.4_In_Frame_Del_p.KE465del|PRG4_ENST00000367486.3_In_Frame_Del_p.KE515del NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 558 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 ACCACCACCAAGGAGCCTGCACC 0.635 18 524 --- --- --- --- PRG4 10216 broad.mit.edu 37 1 186276548 186276550 + In_Frame_Del DEL AGG AGG - TCGA-EM-A3O3-01A-11D-A21Z-08 TCGA-EM-A3O3-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdb360bf-44b7-4550-80df-f34bcddbcb0c 69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c g.chr1:186276548_186276550delAGG ENST00000445192.2 + 7 1742_1744 c.1697_1699delAGG c.(1696-1701)aag>a p.KE566del PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_In_Frame_Del_p.KE525del|PRG4_ENST00000367485.4_In_Frame_Del_p.KE473del|PRG4_ENST00000367486.3_In_Frame_Del_p.KE523del NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 566 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 ACCACTCCCAAGGAGCCTGCACC 0.635 7 465 --- --- --- --- OR2T7 81458 broad.mit.edu 37 1 248604559 248604560 + Frame_Shift_Ins INS - - TC rs58223479 by1000genomes TCGA-EM-A3O3-01A-11D-A21Z-08 TCGA-EM-A3O3-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdb360bf-44b7-4550-80df-f34bcddbcb0c 69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c g.chr1:248604559_248604560insTC ENST00000460972.3 + 1 52_53 c.52_53insTC c.(52-54)cttfs p.L18fs olfactory receptor, family 2, subfamily T, member 7 TTCCCCTGGCTTCTTTGCCCTC 0.515 2 4 --- --- --- --- AC019118.2 0 broad.mit.edu 37 2 2910834 2910835 + RNA INS - - C TCGA-EM-A3O3-01A-11D-A21Z-08 TCGA-EM-A3O3-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdb360bf-44b7-4550-80df-f34bcddbcb0c 69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c g.chr2:2910834_2910835insC ENST00000457478.1 - 0 594 acagccgcccaccctacacctt 0.698 4 8 --- --- --- --- AC114765.1 0 broad.mit.edu 37 2 221311230 221311234 + RNA DEL CTCTT CTCTT - rs73087736 by1000genomes TCGA-EM-A3O3-01A-11D-A21Z-08 TCGA-EM-A3O3-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdb360bf-44b7-4550-80df-f34bcddbcb0c 69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c g.chr2:221311230_221311234delCTCTT ENST00000432993.1 + 0 427 ccctccttccctctttccccacttc 0.527 2 4 --- --- --- --- STK19 8859 broad.mit.edu 37 6 31939825 31939826 + Frame_Shift_Ins INS - - G TCGA-EM-A3O3-01A-11D-A21Z-08 TCGA-EM-A3O3-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdb360bf-44b7-4550-80df-f34bcddbcb0c 69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c g.chr6:31939825_31939826insG ENST00000375331.2 + 1 218_219 c.52_53insG c.(52-54)ggcfs p.G18fs DOM3Z_ENST00000478221.1_5'UTR|DOM3Z_ENST00000337523.5_5'UTR|DOM3Z_ENST00000375349.3_5'UTR|STK19_ENST00000375333.2_Frame_Shift_Ins_p.G18fs NM_004197.1 NP_004188.1 P49842 STK19_HUMAN serine/threonine kinase 19 18 nucleus ATP binding|protein binding|protein serine/threonine kinase activity skin(5)|upper_aerodigestive_tract(2) 7 GCGACAGTGGCGGGCAAACCCC 0.634 11 201 --- --- --- --- MLLT4-AS1 0 broad.mit.edu 37 6 168227187 168227189 + RNA DEL CAT CAT - TCGA-EM-A3O3-01A-11D-A21Z-08 TCGA-EM-A3O3-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdb360bf-44b7-4550-80df-f34bcddbcb0c 69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c g.chr6:168227187_168227189delCAT ENST00000359760.5 - 0 200_202 NR_027906.1 CCATCGGACCCATCACCGCCCGT 0.680 8 238 --- --- --- --- UBN2 254048 broad.mit.edu 37 7 138968642 138968642 + Frame_Shift_Del DEL C C - TCGA-EM-A3O3-01A-11D-A21Z-08 TCGA-EM-A3O3-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdb360bf-44b7-4550-80df-f34bcddbcb0c 69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c g.chr7:138968642delC ENST00000288561.8 + 15 2991 c.2742delC c.(2740-2742)cafs p.H914fs UBN2_ENST00000473989.2_Frame_Shift_Del_p.H997fs NM_173569.3 NP_775840.3 Q6ZU65 UBN2_HUMAN ubinuclein 2 997 Ser-rich. NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 42 AAGGGTCCCACCCCCTGGTTT 0.493 22 45 --- --- --- --- SSPO 23145 broad.mit.edu 37 7 149527565 149527565 + RNA DEL T T - TCGA-EM-A3O3-01A-11D-A21Z-08 TCGA-EM-A3O3-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdb360bf-44b7-4550-80df-f34bcddbcb0c 69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c g.chr7:149527565delT ENST00000378016.2 + 0 15142 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) TCCTGTGTCCTCCTCCACAGT 0.627 4 5 --- --- --- --- ERICH1-AS1 0 broad.mit.edu 37 8 844731 844732 + RNA INS - - G TCGA-EM-A3O3-01A-11D-A21Z-08 TCGA-EM-A3O3-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdb360bf-44b7-4550-80df-f34bcddbcb0c 69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c g.chr8:844731_844732insG ENST00000524139.1 + 0 151 ERICH1-AS1_ENST00000578889.1_RNA|ERICH1-AS1_ENST00000522092.1_RNA|ERICH1-AS1_ENST00000577187.1_RNA GGTGGCTGGCAGGGCAGGGTGG 0.713 7 19 --- --- --- --- PCDH15 65217 broad.mit.edu 37 10 55587198 55587200 + In_Frame_Del DEL GGC GGC - rs12246234 TCGA-EM-A3O3-01A-11D-A21Z-08 TCGA-EM-A3O3-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdb360bf-44b7-4550-80df-f34bcddbcb0c 69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c g.chr10:55587198_55587200delGGC ENST00000373965.2 - 33 4735_4737 c.4341_4343delGCC c.(4339-4344)cct>cc p.PP1449del PCDH15_ENST00000395430.1_In_Frame_Del_p.PP1439del|PCDH15_ENST00000395433.1_In_Frame_Del_p.PP1417del|PCDH15_ENST00000361849.3_In_Frame_Del_p.PP1442del|PCDH15_ENST00000409834.1_In_Frame_Del_p.PP1053del|PCDH15_ENST00000395445.1_In_Frame_Del_p.PP1449del|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395438.1_In_Frame_Del_p.PP1442del|PCDH15_ENST00000437009.1_In_Frame_Del_p.PP1371del|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395432.2_In_Frame_Del_p.PP1402del|PCDH15_ENST00000414778.1_In_Frame_Del_p.PP1444del|PCDH15_ENST00000320301.6_In_Frame_Del_p.PP1442del|PCDH15_ENST00000373957.3_Intron NM_001142771.1|NM_001142772.1 NP_001136243.1|NP_001136244.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 1442 equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) ACCTggcggaggcggcggcggcg 0.571 HNSCC(58;0.16) 7 197 --- --- --- --- RP11-25I15.2 0 broad.mit.edu 37 12 43072603 43072603 + RNA DEL T T - TCGA-EM-A3O3-01A-11D-A21Z-08 TCGA-EM-A3O3-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdb360bf-44b7-4550-80df-f34bcddbcb0c 69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c g.chr12:43072603delT ENST00000548764.1 + 0 465 AGAACTCTGCttttttttttt 0.413 2 4 --- --- --- --- TRAV24 0 broad.mit.edu 37 14 22573825 22573826 + RNA INS - - A rs33991650 by1000genomes TCGA-EM-A3O3-01A-11D-A21Z-08 TCGA-EM-A3O3-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdb360bf-44b7-4550-80df-f34bcddbcb0c 69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c g.chr14:22573825_22573826insA ENST00000390453.1 + 0 55 GACTCTTTTTTAAAAAAACAGG 0.450 4 4 --- --- --- --- PRR25 388199 broad.mit.edu 37 16 863356 863372 + Frame_Shift_Del DEL GGACGCCGGACCGACAC GGACGCCGGACCGACAC - rs113623365 TCGA-EM-A3O3-01A-11D-A21Z-08 TCGA-EM-A3O3-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdb360bf-44b7-4550-80df-f34bcddbcb0c 69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c g.chr16:863356_863372delGGACGCCGGACCGACAC ENST00000301698.1 + 3 704_720 c.704_720delGGACGCCGGACCGACAC c.(703-720)afs p.RTPDRH235fs NM_001013638.1 NP_001013660.1 Q96S07 PRR25_HUMAN proline rich 25 235 large_intestine(1)|lung(1)|skin(1) 3 GGACCGGCAAGGACGCCGGACCGACACGGCCTCCCCA 0.714 3 4 --- --- --- ---