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 KRT15 3866 broad.mit.edu 37 17 39673194 39673194 + Missense_Mutation SNP G G A TCGA-S9-A7R2-01A-21D-A34J-08 TCGA-S9-A7R2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a5cf4b7-7bf9-4246-bb02-4490457998e8 c60fce17-9f90-426d-ac1f-8a0faa38b361 g.chr17:39673194G>A ENST00000254043.3 - 3 4189 c.604C>T c.(604-606)Cgc>Tgc p.R202C KRT15_ENST00000393974.3_Missense_Mutation_p.R37C|KRT15_ENST00000393981.3_Missense_Mutation_p.R37C|KRT15_ENST00000393976.2_Missense_Mutation_p.R202C NM_002275.3 NP_002266.2 P19012 K1C15_HUMAN keratin 15 202 Coil 1B.|Rod. epidermis development intermediate filament protein binding|structural constituent of cytoskeleton NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 Breast(137;0.000286) ACGCCCTGGCGCAGGGCCAGC 0.597000 23 80 0 0 1 0 0 ZAN 7455 broad.mit.edu 37 7 100349693 100349693 + RNA SNP C C T TCGA-S9-A7R2-01A-21D-A34J-08 TCGA-S9-A7R2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a5cf4b7-7bf9-4246-bb02-4490457998e8 c60fce17-9f90-426d-ac1f-8a0faa38b361 g.chr7:100349693C>T ENST00000542585.1 + 0 2113 ZAN_ENST00000449052.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546292.1_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) AAAAACCCACCGTCCCCACAG 0.517000 34 152 0 0 1 0 0 OR4K13 390433 broad.mit.edu 37 14 20502322 20502322 + Missense_Mutation SNP A A G TCGA-S9-A7R2-01A-21D-A34J-08 TCGA-S9-A7R2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a5cf4b7-7bf9-4246-bb02-4490457998e8 c60fce17-9f90-426d-ac1f-8a0faa38b361 g.chr14:20502322A>G ENST00000315693.2 - 1 597 c.596T>C c.(595-597)gTc>gCc p.V199A NM_001004714.1 NP_001004714.1 Q8NH42 OR4KD_HUMAN olfactory receptor, family 4, subfamily K, member 13 199 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4) 24 all_cancers(95;0.00108) Epithelial(56;4.65e-07)|all cancers(55;2.9e-06) GBM - Glioblastoma multiforme(265;0.0064) GTCAGCAATGACCAGGAGCTG 0.488000 5 70 0 0 1 0 0 CDCA7L 55536 broad.mit.edu 37 7 21948089 21948089 + Missense_Mutation SNP A A C TCGA-S9-A7R2-01A-21D-A34J-08 TCGA-S9-A7R2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a5cf4b7-7bf9-4246-bb02-4490457998e8 c60fce17-9f90-426d-ac1f-8a0faa38b361 g.chr7:21948089A>C ENST00000406877.3 - 4 619 c.340T>G c.(340-342)Tct>Gct p.S114A CDCA7L_ENST00000465490.1_5'UTR|CDCA7L_ENST00000373934.4_Missense_Mutation_p.S68A|CDCA7L_ENST00000356195.5_Missense_Mutation_p.S80A NM_018719.4 NP_061189.2 Q96GN5 CDA7L_HUMAN cell division cycle associated 7-like 114 PSIP1-binding. positive regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1) 29 CTCACCAAAGATGCTTTGCCA 0.418000 9 91 0 0 1 0 0 RIPK4 54101 broad.mit.edu 37 21 43161239 43161239 + Missense_Mutation SNP G G A TCGA-S9-A7R2-01A-21D-A34J-08 TCGA-S9-A7R2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a5cf4b7-7bf9-4246-bb02-4490457998e8 c60fce17-9f90-426d-ac1f-8a0faa38b361 g.chr21:43161239G>A ENST00000352483.2 - 9 2322 c.2258C>T c.(2257-2259)aCg>aTg p.T753M RIPK4_ENST00000542057.1_Missense_Mutation_p.T642M|AP001615.9_ENST00000423276.1_RNA|RIPK4_ENST00000332512.3_Missense_Mutation_p.T705M|RIPK4_ENST00000544709.1_Missense_Mutation_p.T642M Q96T11 Q96T11_HUMAN receptor-interacting serine-threonine kinase 4 705 cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 GTGCAGCGCCGTCTGGTTCAG 0.677000 8 126 0 0 1 0 0 KIAA0947 23379 broad.mit.edu 37 5 5463794 5463794 + Silent SNP T T A TCGA-S9-A7R2-01A-21D-A34J-08 TCGA-S9-A7R2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a5cf4b7-7bf9-4246-bb02-4490457998e8 c60fce17-9f90-426d-ac1f-8a0faa38b361 g.chr5:5463794T>A ENST00000296564.7 + 13 4569 c.4347T>A c.(4345-4347)ccT>ccA p.P1449P NM_015325.2 NP_056140.1 Q9Y2F5 K0947_HUMAN KIAA0947 1449 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1) 35 GAGACATCCCTATTTCTCAGG 0.522000 8 73 0 0 1 0 0 CCNF 899 broad.mit.edu 37 16 2498903 2498903 + Missense_Mutation SNP C C T TCGA-S9-A7R2-01A-21D-A34J-08 TCGA-S9-A7R2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a5cf4b7-7bf9-4246-bb02-4490457998e8 c60fce17-9f90-426d-ac1f-8a0faa38b361 g.chr16:2498903C>T ENST00000397066.4 + 11 1230 c.1142C>T c.(1141-1143)aCg>aTg p.T381M NM_001761.2 NP_001752.2 P41002 CCNF_HUMAN cyclin F 381 Cyclin N-terminal. cell division|mitosis|negative regulation of centrosome duplication|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process centriole|nucleus|SCF ubiquitin ligase complex protein binding breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1) 20 Ovarian(90;0.17) GTATGGCTCACGGACAACACT 0.557000 4 110 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100678561 100678561 + Silent SNP G G T TCGA-S9-A7R2-01A-21D-A34J-08 TCGA-S9-A7R2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a5cf4b7-7bf9-4246-bb02-4490457998e8 c60fce17-9f90-426d-ac1f-8a0faa38b361 g.chr7:100678561G>T ENST00000306151.4 + 3 3928 c.3864G>T c.(3862-3864)acG>acT p.T1288T NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 1288 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity p.T1288T(1) NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) TCAGCACCACGCTGGTGACCA 0.473000 7 744 6.94344e-10 7.14183e-10 1 1 0 ZNF479 90827 broad.mit.edu 37 7 57194409 57194409 + Missense_Mutation SNP C C G TCGA-S9-A7R2-01A-21D-A34J-08 TCGA-S9-A7R2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a5cf4b7-7bf9-4246-bb02-4490457998e8 c60fce17-9f90-426d-ac1f-8a0faa38b361 g.chr7:57194409C>G ENST00000331162.4 - 3 326 c.56G>C c.(55-57)aGa>aCa p.R19T NM_033273.1 NP_150376.1 Q96JC4 ZN479_HUMAN zinc finger protein 479 19 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 84 GBM - Glioblastoma multiforme(1;9.18e-12) AGCTATGTCTCTGAATGTCAA 0.413000 15 101 0 0 1 0 0 CD300C 10871 broad.mit.edu 37 17 72541027 72541027 + Missense_Mutation SNP C C T TCGA-S9-A7R2-01A-21D-A34J-08 TCGA-S9-A7R2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a5cf4b7-7bf9-4246-bb02-4490457998e8 c60fce17-9f90-426d-ac1f-8a0faa38b361 g.chr17:72541027C>T ENST00000330793.1 - 2 481 c.121G>A c.(121-123)Gtg>Atg p.V41M NM_006678.3 NP_006669.1 Q08708 CLM6_HUMAN CD300c molecule 41 Ig-like V-type. cellular defense response integral to plasma membrane transmembrane receptor activity endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|skin(2)|upper_aerodigestive_tract(1) 21 CGACACTGCACACTCAGGGAT 0.537000 22 75 0 0 1 0 0 CDKN2AIP 55602 broad.mit.edu 37 4 184367380 184367380 + Silent SNP G G A TCGA-S9-A7R2-01A-21D-A34J-08 TCGA-S9-A7R2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a5cf4b7-7bf9-4246-bb02-4490457998e8 c60fce17-9f90-426d-ac1f-8a0faa38b361 g.chr4:184367380G>A ENST00000504169.1 + 3 750 c.543G>A c.(541-543)tcG>tcA p.S181S CDKN2AIP_ENST00000506835.1_3'UTR|CDKN2AIP_ENST00000302350.4_3'UTR NM_017632.2 NP_060102.1 Q9NXV6 CARF_HUMAN CDKN2A interacting protein 181 Ser-rich. negative regulation of cell growth|positive regulation of signal transduction|regulation of protein stability granular component|nucleoplasm double-stranded RNA binding|p53 binding endometrium(1)|kidney(2)|large_intestine(2)|lung(1) 6 all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749) all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155) GTATAGGGTCGGCCATCAAAT 0.483000 4 64 0 0 1 0 0 RP11-417J8.6 0 broad.mit.edu 37 1 142713773 142713773 + RNA SNP C C G TCGA-S9-A7R2-01A-21D-A34J-08 TCGA-S9-A7R2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a5cf4b7-7bf9-4246-bb02-4490457998e8 c60fce17-9f90-426d-ac1f-8a0faa38b361 g.chr1:142713773C>G ENST00000369381.2 - 0 832 TCTTTTTCCACATTGTCATTT 0.284000 5 125 0 0 1 0 0 ATF6B 1388 broad.mit.edu 37 6 32089121 32089121 + Silent SNP G G C TCGA-S9-A7R2-01A-21D-A34J-08 TCGA-S9-A7R2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a5cf4b7-7bf9-4246-bb02-4490457998e8 c60fce17-9f90-426d-ac1f-8a0faa38b361 g.chr6:32089121G>C ENST00000375201.4 - 6 519 c.474C>G c.(472-474)gtC>gtG p.V158V ATF6B_ENST00000375203.3_Silent_p.V161V Q99941 ATF6B_HUMAN activating transcription factor 6 beta 161 response to unfolded protein|signal transduction endoplasmic reticulum membrane|integral to membrane|nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1) 22 TCTTGGTCTGGACATCTGTGG 0.547000 10 20 0 0 1 0 0 CKMT1A 548596 broad.mit.edu 37 15 43990947 43990947 + Nonsense_Mutation SNP C C T rs150214356 TCGA-S9-A7R2-01A-21D-A34J-08 TCGA-S9-A7R2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a5cf4b7-7bf9-4246-bb02-4490457998e8 c60fce17-9f90-426d-ac1f-8a0faa38b361 g.chr15:43990947C>T ENST00000413453.2 + 8 1644 c.1120C>T c.(1120-1122)Cga>Tga p.R374* CKMT1A_ENST00000434505.1_Nonsense_Mutation_p.R374*|STRC_ENST00000541030.1_Intron P12532 KCRU_HUMAN creatine kinase, mitochondrial 1A 374 Phosphagen kinase C-terminal. creatine metabolic process mitochondrial inner membrane ATP binding|creatine kinase activity lung(4) 4 all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.56e-07) Creatine(DB00148) TAATTTGGACCGACTAGGCAA 0.502000 19 64 0 0 1 0 0 DOCK11 139818 broad.mit.edu 37 X 117739300 117739300 + Missense_Mutation SNP G G A TCGA-S9-A7R2-01A-21D-A34J-08 TCGA-S9-A7R2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a5cf4b7-7bf9-4246-bb02-4490457998e8 c60fce17-9f90-426d-ac1f-8a0faa38b361 g.chrX:117739300G>A ENST00000276204.6 + 24 2736 c.2662G>A c.(2662-2664)Gtt>Att p.V888I DOCK11_ENST00000276202.7_Missense_Mutation_p.V888I Q5JSL3 DOC11_HUMAN dedicator of cytokinesis 11 888 blood coagulation cytosol GTP binding p.V888I(1) breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1) 84 TGAAGATGACGTTCCTATCAA 0.348000 54 43 0 0 1 0 0 SIPA1L1 26037 broad.mit.edu 37 14 72055540 72055540 + Silent SNP A A G TCGA-S9-A7R2-01A-21D-A34J-08 TCGA-S9-A7R2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a5cf4b7-7bf9-4246-bb02-4490457998e8 c60fce17-9f90-426d-ac1f-8a0faa38b361 g.chr14:72055540A>G ENST00000555818.1 + 2 1299 c.951A>G c.(949-951)cgA>cgG p.R317R SIPA1L1_ENST00000358550.2_Silent_p.R317R|SIPA1L1_ENST00000381232.3_Silent_p.R317R NM_015556.1 NP_056371.1 O43166 SI1L1_HUMAN signal-induced proliferation-associated 1 like 1 317 actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome GTPase activator activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1) 78 all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109) AAGATAACCGATCAGAAGACT 0.413000 18 59 0 0 1 0 0 CROCCP2 0 broad.mit.edu 37 1 16946434 16946434 + RNA SNP C C T rs367060 TCGA-S9-A7R2-01A-21D-A34J-08 TCGA-S9-A7R2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a5cf4b7-7bf9-4246-bb02-4490457998e8 c60fce17-9f90-426d-ac1f-8a0faa38b361 g.chr1:16946434C>T ENST00000412962.1 - 0 1085 CTCAGCCTTCCGCCGGGCCAG 0.672000 5 22 0 0 1 0 0 ALOX12 239 broad.mit.edu 37 17 6913672 6913672 + Missense_Mutation SNP G G A TCGA-S9-A7R2-01A-21D-A34J-08 TCGA-S9-A7R2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a5cf4b7-7bf9-4246-bb02-4490457998e8 c60fce17-9f90-426d-ac1f-8a0faa38b361 g.chr17:6913672G>A ENST00000251535.6 + 14 1975 c.1922G>A c.(1921-1923)cGg>cAg p.R641Q AC027763.2_ENST00000574377.1_Intron|AC027763.2_ENST00000399540.2_Intron|AC027763.2_ENST00000399541.2_Intron|RP11-589P10.7_ENST00000572547.1_RNA|AC027763.2_ENST00000575727.1_Intron|AC027763.2_ENST00000573939.1_Intron NM_000697.2 NP_000688.2 P18054 LOX12_HUMAN arachidonate 12-lipoxygenase 641 Lipoxygenase. anti-apoptosis|cellular component movement|fatty acid oxidation|leukotriene biosynthetic process|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of cell proliferation|superoxide anion generation cytosol|sarcolemma arachidonate 12-lipoxygenase activity|hepoxilin-epoxide hydrolase activity|iron ion binding|lipoxygenase activity|protein binding breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1) 19 ATTACAGCCCGGAATGAGCAA 0.473000 9 64 0 0 1 0 0 ANKRD30B 374860 broad.mit.edu 37 18 14791432 14791432 + Silent SNP G G C TCGA-S9-A7R2-01A-21D-A34J-08 TCGA-S9-A7R2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a5cf4b7-7bf9-4246-bb02-4490457998e8 c60fce17-9f90-426d-ac1f-8a0faa38b361 g.chr18:14791432G>C ENST00000358984.4 + 16 1947 c.1767G>C c.(1765-1767)gtG>gtC p.V589V ANKRD30B_ENST00000447268.2_Silent_p.V589V|ANKRD30B_ENST00000579292.1_Intron NM_001145029.1 NP_001138501.1 Q9BXX2 AN30B_HUMAN ankyrin repeat domain 30B 589 breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1) 22 AGAAGGATGTGTATTTACCCA 0.284000 16 50 0 0 1 0 0 ADAM2 2515 broad.mit.edu 37 8 39645770 39645770 + Splice_Site SNP T T C TCGA-S9-A7R2-01A-21D-A34J-08 TCGA-S9-A7R2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a5cf4b7-7bf9-4246-bb02-4490457998e8 c60fce17-9f90-426d-ac1f-8a0faa38b361 g.chr8:39645770T>C ENST00000265708.4 - 9 746 c.642_splice c.e9-1 p.I215_splice ADAM2_ENST00000347580.4_Splice_Site_p.I196_splice|ADAM2_ENST00000379853.2_Intron|ADAM2_ENST00000521880.1_Splice_Site_p.I215_splice NM_001464.3 NP_001455.3 Q99965 ADAM2_HUMAN ADAM metallopeptidase domain 2 215 Peptidase M12B. cell adhesion|fusion of sperm to egg plasma membrane|proteolysis integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1) 53 all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246) LUSC - Lung squamous cell carcinoma(45;0.000149) READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162) GAAACAAAAATCTAAAATAGA 0.239000 20 70 0 0 1 0 0 UGT2A1 10941 broad.mit.edu 37 4 70460268 70460268 + Missense_Mutation SNP C C A TCGA-S9-A7R2-01A-21D-A34J-08 TCGA-S9-A7R2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a5cf4b7-7bf9-4246-bb02-4490457998e8 c60fce17-9f90-426d-ac1f-8a0faa38b361 g.chr4:70460268C>A ENST00000503640.1 - 5 1286 c.1231G>T c.(1231-1233)Gtg>Ttg p.V411L UGT2A1_ENST00000502343.1_5'UTR|UGT2A2_ENST00000457664.2_Missense_Mutation_p.V420L|UGT2A1_ENST00000512704.1_Missense_Mutation_p.V367L|UGT2A1_ENST00000286604.4_Missense_Mutation_p.V411L|UGT2A1_ENST00000514019.1_Missense_Mutation_p.V577L NM_006798.3 NP_006789.2 Q9Y4X1 UD2A1_HUMAN UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus 411 detection of chemical stimulus|sensory perception of smell integral to membrane glucuronosyltransferase activity NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2) 30 TTCACTTCCACAGCTGCTCCT 0.443000 20 112 7.21436e-19 7.75275e-19 1 1 0 TRBV20-1 0 broad.mit.edu 37 7 142334679 142334679 + RNA SNP A A C TCGA-S9-A7R2-01A-21D-A34J-08 TCGA-S9-A7R2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a5cf4b7-7bf9-4246-bb02-4490457998e8 c60fce17-9f90-426d-ac1f-8a0faa38b361 g.chr7:142334679A>C ENST00000390394.3 + 0 179 ACCTCTGTGAAGATCGAGTGC 0.527000 OREG0018395 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 146 0 0 1 0 0 LRRC7 57554 broad.mit.edu 37 1 70488940 70488940 + Missense_Mutation SNP G G T TCGA-S9-A7R2-01A-21D-A34J-08 TCGA-S9-A7R2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a5cf4b7-7bf9-4246-bb02-4490457998e8 c60fce17-9f90-426d-ac1f-8a0faa38b361 g.chr1:70488940G>T ENST00000310961.5 + 18 1996 c.1578G>T c.(1576-1578)caG>caT p.Q526H RP11-181B18.1_ENST00000414132.1_RNA|LRRC7_ENST00000035383.5_Missense_Mutation_p.Q521H|LRRC7_ENST00000415775.2_Intron Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 521 centrosome|focal adhesion|nucleolus protein binding breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 162 CCGTCCCCCAGAATGACCCAC 0.562000 19 60 1.01871e-10 1.063e-10 1 1 0 NCF1B 0 broad.mit.edu 37 7 72639953 72639953 + RNA SNP G G A TCGA-S9-A7R2-01A-21D-A34J-08 TCGA-S9-A7R2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a5cf4b7-7bf9-4246-bb02-4490457998e8 c60fce17-9f90-426d-ac1f-8a0faa38b361 g.chr7:72639953G>A ENST00000423083.1 + 0 158 NR_003186.1 GCGGGCCGCCGAGAACCACCA 0.637000 13 37 0 0 1 0 0 LTBP1 4052 broad.mit.edu 37 2 33412100 33412100 + Nonsense_Mutation SNP C C G TCGA-S9-A7R2-01A-21D-A34J-08 TCGA-S9-A7R2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a5cf4b7-7bf9-4246-bb02-4490457998e8 c60fce17-9f90-426d-ac1f-8a0faa38b361 g.chr2:33412100C>G ENST00000404816.2 + 6 1732 c.1379C>G c.(1378-1380)tCa>tGa p.S460* LTBP1_ENST00000418533.2_Nonsense_Mutation_p.S134*|LTBP1_ENST00000404525.1_Nonsense_Mutation_p.S134*|LTBP1_ENST00000402934.1_Nonsense_Mutation_p.S134*|LTBP1_ENST00000407925.1_Nonsense_Mutation_p.S134*|LTBP1_ENST00000354476.3_Nonsense_Mutation_p.S460*|LTBP1_ENST00000390003.4_Nonsense_Mutation_p.S134* Q14766 LTBP1_HUMAN latent transforming growth factor beta binding protein 1 460 negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3) 108 all_hematologic(175;0.115) Medulloblastoma(90;0.215) GTCATCCATTCAACACATACC 0.512000 10 46 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628251 29628251 + Missense_Mutation SNP A A G TCGA-S9-A7R2-01A-21D-A34J-08 TCGA-S9-A7R2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a5cf4b7-7bf9-4246-bb02-4490457998e8 c60fce17-9f90-426d-ac1f-8a0faa38b361 g.chr20:29628251A>G ENST00000278882.3 + 6 633 c.253A>G c.(253-255)Aat>Gat p.N85D FRG1B_ENST00000439954.2_Missense_Mutation_p.N90D|FRG1B_ENST00000358464.4_Missense_Mutation_p.N85D p.N85D(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GTTGGCCTCAAATAGCTGCTT 0.358000 10 174 0 0 1 0 0 KIAA1109 84162 broad.mit.edu 37 4 123151111 123151111 + Missense_Mutation SNP G G A TCGA-S9-A7R2-01A-21D-A34J-08 TCGA-S9-A7R2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a5cf4b7-7bf9-4246-bb02-4490457998e8 c60fce17-9f90-426d-ac1f-8a0faa38b361 g.chr4:123151111G>A ENST00000264501.4 + 26 3441 c.3068G>A c.(3067-3069)tGt>tAt p.C1023Y KIAA1109_ENST00000495260.1_3'UTR|KIAA1109_ENST00000388738.3_Missense_Mutation_p.C1023Y|KIAA1109_ENST00000455637.1_Missense_Mutation_p.C1023Y Q2LD37 K1109_HUMAN KIAA1109 1023 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3) 172 GTTGCAAACTGTAATCTCCAC 0.343000 13 49 0 0 1 0 0 HMGCLL1 54511 broad.mit.edu 37 6 55406633 55406633 + Splice_Site SNP A A G TCGA-S9-A7R2-01A-21D-A34J-08 TCGA-S9-A7R2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a5cf4b7-7bf9-4246-bb02-4490457998e8 c60fce17-9f90-426d-ac1f-8a0faa38b361 g.chr6:55406633A>G ENST00000398661.2 - 4 412 c.279_splice c.e4-1 p.V94_splice HMGCLL1_ENST00000308161.4_Splice_Site_p.V64_splice|HMGCLL1_ENST00000428842.1_Splice_Site_p.V64_splice|HMGCLL1_ENST00000370850.2_Splice_Site_p.V64_splice|HMGCLL1_ENST00000508459.1_Splice_Site_p.V64_splice|HMGCLL1_ENST00000274901.4_Splice_Site_p.V64_splice NM_019036.2 NP_061909.2 Q8TB92 HMGC2_HUMAN 3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1 94 hydroxymethylglutaryl-CoA lyase activity|metal ion binding breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 31 Lung NSC(77;0.0875) LUSC - Lung squamous cell carcinoma(124;0.23) AGGAACTATAACCTATGAAAA 0.294000 26 89 0 0 1 0 0 NAA25 80018 broad.mit.edu 37 12 112499080 112499080 + Missense_Mutation SNP G G A TCGA-S9-A7R2-01A-21D-A34J-08 TCGA-S9-A7R2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a5cf4b7-7bf9-4246-bb02-4490457998e8 c60fce17-9f90-426d-ac1f-8a0faa38b361 g.chr12:112499080G>A ENST00000261745.4 - 12 1510 c.1262C>T c.(1261-1263)aCg>aTg p.T421M NM_024953.3 NP_079229.2 Q14CX7 NAA25_HUMAN N(alpha)-acetyltransferase 25, NatB auxiliary subunit 421 cytoplasm protein binding autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 46 AAGTAACCTCGTCAGCTGCAC 0.463000 7 35 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628263 29628263 + Missense_Mutation SNP A A G TCGA-S9-A7R2-01A-21D-A34J-08 TCGA-S9-A7R2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a5cf4b7-7bf9-4246-bb02-4490457998e8 c60fce17-9f90-426d-ac1f-8a0faa38b361 g.chr20:29628263A>G ENST00000278882.3 + 6 645 c.265A>G c.(265-267)Att>Gtt p.I89V FRG1B_ENST00000439954.2_Missense_Mutation_p.I94V|FRG1B_ENST00000358464.4_Missense_Mutation_p.I89V p.I89V(4) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TAGCTGCTTTATTAGATGCAA 0.363000 4 163 0 0 1 0 0 MYO5C 55930 broad.mit.edu 37 15 52532038 52532038 + Silent SNP G G A TCGA-S9-A7R2-01A-21D-A34J-08 TCGA-S9-A7R2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a5cf4b7-7bf9-4246-bb02-4490457998e8 c60fce17-9f90-426d-ac1f-8a0faa38b361 g.chr15:52532038G>A ENST00000261839.7 - 21 2756 c.2595C>T c.(2593-2595)taC>taT p.Y865Y MYO5C_ENST00000443683.2_Intron NM_018728.3 NP_061198.2 Q9NQX4 MYO5C_HUMAN myosin VC 865 IQ 5. myosin complex actin binding|ATP binding|calmodulin binding|motor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 all cancers(107;0.0137) ACGCCCGTGCGTATTTCTGTA 0.453000 27 63 0 0 1 0 0 RP11-417J8.6 0 broad.mit.edu 37 1 142713774 142713774 + RNA SNP A A G TCGA-S9-A7R2-01A-21D-A34J-08 TCGA-S9-A7R2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a5cf4b7-7bf9-4246-bb02-4490457998e8 c60fce17-9f90-426d-ac1f-8a0faa38b361 g.chr1:142713774A>G ENST00000369381.2 - 0 831 CTTTTTCCACATTGTCATTTT 0.284000 5 126 0 0 1 0 0 CSN3 1448 broad.mit.edu 37 4 71114860 71114860 + Missense_Mutation SNP G G A TCGA-S9-A7R2-01A-21D-A34J-08 TCGA-S9-A7R2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a5cf4b7-7bf9-4246-bb02-4490457998e8 c60fce17-9f90-426d-ac1f-8a0faa38b361 g.chr4:71114860G>A ENST00000304954.3 + 4 319 c.233G>A c.(232-234)cGc>cAc p.R78H NM_005212.2 NP_005203.2 P07498 CASK_HUMAN casein kappa 78 extracellular region protein binding central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 18 TATGTGCCTCGCACATATTAT 0.448000 16 43 0 0 1 0 0 EPM2AIP1 9852 broad.mit.edu 37 3 37032873 37032873 + Nonsense_Mutation SNP G G A TCGA-S9-A7R2-01A-21D-A34J-08 TCGA-S9-A7R2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a5cf4b7-7bf9-4246-bb02-4490457998e8 c60fce17-9f90-426d-ac1f-8a0faa38b361 g.chr3:37032873G>A ENST00000322716.5 - 1 1922 c.1696C>T c.(1696-1698)Cga>Tga p.R566* NM_014805.3 NP_055620.1 Q7L775 EPMIP_HUMAN EPM2A (laforin) interacting protein 1 566 endoplasmic reticulum breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(12)|ovary(2) 27 TGTTGGTTTCGAGTCAAATAT 0.453000 26 69 0 0 1 0 0 PCM1 5108 broad.mit.edu 37 8 17823519 17823519 + Missense_Mutation SNP A A G TCGA-S9-A7R2-01A-21D-A34J-08 TCGA-S9-A7R2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a5cf4b7-7bf9-4246-bb02-4490457998e8 c60fce17-9f90-426d-ac1f-8a0faa38b361 g.chr8:17823519A>G ENST00000325083.8 + 19 3306 c.2867A>G c.(2866-2868)aAt>aGt p.N956S PCM1_ENST00000524226.1_Missense_Mutation_p.N957S|PCM1_ENST00000519253.1_Missense_Mutation_p.N956S NM_006197.3 NP_006188.3 Q15154 PCM1_HUMAN pericentriolar material 1 956 centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome centriolar satellite|cytosol|nuclear membrane|pericentriolar material identical protein binding PCM1/JAK2(30) breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 48 Colorectal(111;0.0789) TGGAAGAACAATTGCCCTTTT 0.388000 T """RET, JAK2""" """papillary thyroid, CML, MPD""" 6 30 0 0 1 0 0 RRBP1 6238 broad.mit.edu 37 20 17602584 17602584 + Silent SNP C C T TCGA-S9-A7R2-01A-21D-A34J-08 TCGA-S9-A7R2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a5cf4b7-7bf9-4246-bb02-4490457998e8 c60fce17-9f90-426d-ac1f-8a0faa38b361 g.chr20:17602584C>T ENST00000377813.1 - 14 3459 c.3156G>A c.(3154-3156)tcG>tcA p.S1052S RRBP1_ENST00000360807.4_Silent_p.S619S|RRBP1_ENST00000246043.4_Silent_p.S1052S|RRBP1_ENST00000455029.2_Silent_p.S393S|RRBP1_ENST00000377807.2_Silent_p.S619S Q9P2E9 RRBP1_HUMAN ribosome binding protein 1 1052 protein transport|translation|transmembrane transport integral to endoplasmic reticulum membrane|ribosome receptor activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6) 28 GCTGCTTCTCCGATTCCTCCT 0.617000 5 58 0 0 1 0 0 IL17F 112744 broad.mit.edu 37 6 52101833 52101833 + Missense_Mutation SNP C C T rs141798304 byFrequency TCGA-S9-A7R2-01A-21D-A34J-08 TCGA-S9-A7R2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a5cf4b7-7bf9-4246-bb02-4490457998e8 c60fce17-9f90-426d-ac1f-8a0faa38b361 g.chr6:52101833C>T ENST00000336123.4 - 3 495 c.388G>A c.(388-390)Gtc>Atc p.V130I NM_052872.3 NP_443104.1 Q96PD4 IL17F_HUMAN interleukin 17F 130 cartilage development|inflammatory response|lymphotoxin A biosynthetic process|negative regulation of angiogenesis|proteoglycan metabolic process|regulation of granulocyte macrophage colony-stimulating factor biosynthetic process|regulation of interleukin-2 biosynthetic process|regulation of interleukin-6 biosynthetic process|regulation of interleukin-8 biosynthetic process|regulation of transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|cytokine binding|protein homodimerization activity NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1) 14 Lung NSC(77;0.116) TTCCTCCGGACGACCAGGGTC 0.542000 8 44 0 0 1 0 0 GTF2IRD2P1 0 broad.mit.edu 37 7 72658179 72658179 + RNA SNP T T C rs147293416 by1000genomes TCGA-S9-A7R2-01A-21D-A34J-08 TCGA-S9-A7R2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a5cf4b7-7bf9-4246-bb02-4490457998e8 c60fce17-9f90-426d-ac1f-8a0faa38b361 g.chr7:72658179T>C ENST00000425256.1 - 0 1732 NR_002164.1 cagagtgatttcggatgaatt 0.507000 4 96 0 0 1 0 0 EPB41L2 2037 broad.mit.edu 37 6 131211436 131211436 + Missense_Mutation SNP C C G TCGA-S9-A7R2-01A-21D-A34J-08 TCGA-S9-A7R2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a5cf4b7-7bf9-4246-bb02-4490457998e8 c60fce17-9f90-426d-ac1f-8a0faa38b361 g.chr6:131211436C>G ENST00000337057.3 - 11 1839 c.1658G>C c.(1657-1659)gGa>gCa p.G553A EPB41L2_ENST00000525271.1_Missense_Mutation_p.G553A|EPB41L2_ENST00000527659.1_Missense_Mutation_p.G553A|EPB41L2_ENST00000530481.1_Missense_Mutation_p.G553A|EPB41L2_ENST00000445890.2_Missense_Mutation_p.G553A|EPB41L2_ENST00000529208.1_Missense_Mutation_p.G553A|EPB41L2_ENST00000528282.1_Missense_Mutation_p.G553A|EPB41L2_ENST00000525193.1_Missense_Mutation_p.G553A|EPB41L2_ENST00000368128.2_Missense_Mutation_p.G553A|EPB41L2_ENST00000527411.1_Missense_Mutation_p.G553A|EPB41L2_ENST00000392427.3_Missense_Mutation_p.G553A NM_001431.3 NP_001422.1 O43491 E41L2_HUMAN erythrocyte membrane protein band 4.1-like 2 553 Hydrophilic. cortical actin cytoskeleton organization extrinsic to membrane|plasma membrane|spectrin actin binding|structural molecule activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2) 44 Breast(56;0.0639) OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355) GTGTTTACCTCCATCTAGACT 0.448000 26 132 0 0 1 0 0 FAM47C 442444 broad.mit.edu 37 X 37029461 37029461 + Missense_Mutation SNP T T C TCGA-S9-A7R2-01A-21D-A34J-08 TCGA-S9-A7R2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a5cf4b7-7bf9-4246-bb02-4490457998e8 c60fce17-9f90-426d-ac1f-8a0faa38b361 g.chrX:37029461T>C ENST00000358047.3 + 1 3030 c.2978T>C c.(2977-2979)aTg>aCg p.M993T NM_001013736.2 NP_001013758.1 Q5HY64 FA47C_HUMAN family with sequence similarity 47, member C 993 breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 120 GGCTATGAAATGCCTGGCATC 0.438000 40 62 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152281967 152281967 + Missense_Mutation SNP C C A TCGA-S9-A7R2-01A-21D-A34J-08 TCGA-S9-A7R2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a5cf4b7-7bf9-4246-bb02-4490457998e8 c60fce17-9f90-426d-ac1f-8a0faa38b361 g.chr1:152281967C>A ENST00000368799.1 - 3 5430 c.5395G>T c.(5395-5397)Gac>Tac p.D1799Y FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 1799 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTGGAGCTGTCTCGTGCCTGC 0.602000 Ichthyosis 56 412 5.47352e-35 5.97112e-35 1 1 0 IL18RAP 8807 broad.mit.edu 37 2 103061723 103061723 + Missense_Mutation SNP G G A TCGA-S9-A7R2-01A-21D-A34J-08 TCGA-S9-A7R2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a5cf4b7-7bf9-4246-bb02-4490457998e8 c60fce17-9f90-426d-ac1f-8a0faa38b361 g.chr2:103061723G>A ENST00000264260.2 + 9 1584 c.995G>A c.(994-996)cGc>cAc p.R332H IL18RAP_ENST00000409369.1_Missense_Mutation_p.R190H NM_003853.2 NP_003844.1 O95256 I18RA_HUMAN interleukin 18 receptor accessory protein 332 Ig-like C2-type 2. cell surface receptor linked signaling pathway|inflammatory response|innate immune response integral to membrane transmembrane receptor activity autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4) 37 CGTGATCTTCGCAGGAAGTTT 0.423000 4 78 0 0 1 0 0 KRT2 3849 broad.mit.edu 37 12 53045508 53045508 + Missense_Mutation SNP C C T TCGA-S9-A7R2-01A-21D-A34J-08 TCGA-S9-A7R2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a5cf4b7-7bf9-4246-bb02-4490457998e8 c60fce17-9f90-426d-ac1f-8a0faa38b361 g.chr12:53045508C>T ENST00000309680.3 - 1 440 c.419G>A c.(418-420)gGc>gAc p.G140D NM_000423.2 NP_000414.2 P35908 K22E_HUMAN keratin 2 140 Head. keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation Golgi apparatus|keratin filament protein binding|structural constituent of cytoskeleton endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 32 BRCA - Breast invasive adenocarcinoma(357;0.19) AGGCCCAAAGCCACCAGGACC 0.592000 22 45 0 0 1 0 0 FAM71F2 346653 broad.mit.edu 37 7 128317737 128317737 + Missense_Mutation SNP T T C TCGA-S9-A7R2-01A-21D-A34J-08 TCGA-S9-A7R2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a5cf4b7-7bf9-4246-bb02-4490457998e8 c60fce17-9f90-426d-ac1f-8a0faa38b361 g.chr7:128317737T>C ENST00000480462.1 + 3 591 c.485T>C c.(484-486)aTt>aCt p.I162T FAM71F2_ENST00000460349.1_3'UTR|FAM71F2_ENST00000477515.1_Intron|FAM71F2_ENST00000378704.3_Missense_Mutation_p.I153T Q6NXP2 F71F2_HUMAN family with sequence similarity 71, member F2 162 NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(2) 7 CACCCAGAGATTGTGTTTCAA 0.507000 7 113 0 0 1 0 0 TBC1D10A 83874 broad.mit.edu 37 22 30688392 30688392 + Missense_Mutation SNP G G C TCGA-S9-A7R2-01A-21D-A34J-08 TCGA-S9-A7R2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a5cf4b7-7bf9-4246-bb02-4490457998e8 c60fce17-9f90-426d-ac1f-8a0faa38b361 g.chr22:30688392G>C ENST00000215790.7 - 9 1663 c.1499C>G c.(1498-1500)tCc>tGc p.S500C TBC1D10A_ENST00000403362.1_Missense_Mutation_p.S412C|TBC1D10A_ENST00000403477.3_Missense_Mutation_p.S507C|RP1-130H16.18_ENST00000447976.1_Intron NM_031937.2 NP_114143.1 Q9BXI6 TB10A_HUMAN TBC1 domain family, member 10A 500 intracellular|microvillus guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 ACTCTCTTGGGACGTCAAGCT 0.592000 55 144 0 0 1 0 0 HECW1 23072 broad.mit.edu 37 7 43591856 43591856 + Silent SNP C C T TCGA-S9-A7R2-01A-21D-A34J-08 TCGA-S9-A7R2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a5cf4b7-7bf9-4246-bb02-4490457998e8 c60fce17-9f90-426d-ac1f-8a0faa38b361 g.chr7:43591856C>T ENST00000395891.1 + 28 5036 c.4431C>T c.(4429-4431)gcC>gcT p.A1477A HECW1_ENST00000453890.1_Silent_p.A1443A NM_015052.3 NP_055867.3 Q76N89 HECW1_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 1477 HECT. protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin-protein ligase activity NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3) 125 TGTTTGATGCCAGGGAGCTGG 0.517000 13 89 0 0 1 0 0 RP11-204M4.2 0 broad.mit.edu 37 9 41962666 41962666 + RNA SNP T T G TCGA-S9-A7R2-01A-21D-A34J-08 TCGA-S9-A7R2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a5cf4b7-7bf9-4246-bb02-4490457998e8 c60fce17-9f90-426d-ac1f-8a0faa38b361 g.chr9:41962666T>G ENST00000454645.1 - 0 838 NR_003670.1 CCTCCGTTGTTTGTCCATTTA 0.358000 6 49 0 0 1 0 0 RALGAPA1 253959 broad.mit.edu 37 14 36147303 36147303 + Nonsense_Mutation SNP C C A TCGA-S9-A7R2-01A-21D-A34J-08 TCGA-S9-A7R2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a5cf4b7-7bf9-4246-bb02-4490457998e8 c60fce17-9f90-426d-ac1f-8a0faa38b361 g.chr14:36147303C>A ENST00000258840.6 - 22 3490 c.3100G>T c.(3100-3102)Gaa>Taa p.E1034* RALGAPA1_ENST00000382366.3_Nonsense_Mutation_p.E1000*|RALGAPA1_ENST00000389698.3_Nonsense_Mutation_p.E987*|RALGAPA1_ENST00000307138.6_Nonsense_Mutation_p.E987* Q6GYQ0 RGPA1_HUMAN Ral GTPase activating protein, alpha subunit 1 (catalytic) 987 activation of Ral GTPase activity cytosol|mitochondrion|nucleus protein heterodimerization activity|Ral GTPase activator activity breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 GAAGCACTTTCTGAACCTGTA 0.373000 11 18 1.5842e-08 1.60651e-08 1 1 0 AGAP2 116986 broad.mit.edu 37 12 58135803 58135803 + Nonsense_Mutation SNP G G A TCGA-S9-A7R2-01A-21D-A34J-08 TCGA-S9-A7R2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a5cf4b7-7bf9-4246-bb02-4490457998e8 c60fce17-9f90-426d-ac1f-8a0faa38b361 g.chr12:58135803G>A ENST00000257897.3 - 1 137 c.52C>T c.(52-54)Cga>Tga p.R18* TSPAN31_ENST00000553221.1_Intron NM_014770.3 NP_055585.1 Q99490 AGAP2_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 0 Interaction with EPB41L1 (By similarity). axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction mitochondrion|nucleolus ARF GTPase activator activity|GTP binding|zinc ion binding breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1) 48 ACCTCATGTCGTCTGACTTCT 0.592000 403 112 0 0 1 0 0 EPB41L2 2037 broad.mit.edu 37 6 131211508 131211508 + Missense_Mutation SNP C C G TCGA-S9-A7R2-01A-21D-A34J-08 TCGA-S9-A7R2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a5cf4b7-7bf9-4246-bb02-4490457998e8 c60fce17-9f90-426d-ac1f-8a0faa38b361 g.chr6:131211508C>G ENST00000337057.3 - 11 1767 c.1586G>C c.(1585-1587)aGc>aCc p.S529T EPB41L2_ENST00000525271.1_Missense_Mutation_p.S529T|EPB41L2_ENST00000527659.1_Missense_Mutation_p.S529T|EPB41L2_ENST00000530481.1_Missense_Mutation_p.S529T|EPB41L2_ENST00000445890.2_Missense_Mutation_p.S529T|EPB41L2_ENST00000529208.1_Missense_Mutation_p.S529T|EPB41L2_ENST00000528282.1_Missense_Mutation_p.S529T|EPB41L2_ENST00000525193.1_Missense_Mutation_p.S529T|EPB41L2_ENST00000368128.2_Missense_Mutation_p.S529T|EPB41L2_ENST00000527411.1_Missense_Mutation_p.S529T|EPB41L2_ENST00000392427.3_Missense_Mutation_p.S529T NM_001431.3 NP_001422.1 O43491 E41L2_HUMAN erythrocyte membrane protein band 4.1-like 2 529 Hydrophilic. cortical actin cytoskeleton organization extrinsic to membrane|plasma membrane|spectrin actin binding|structural molecule activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2) 44 Breast(56;0.0639) OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355) TATGAGGGTGCTGGCCTGGCG 0.507000 29 117 0 0 1 0 0 GRIN1 2902 broad.mit.edu 37 9 140040319 140040319 + Missense_Mutation SNP C C T TCGA-S9-A7R2-01A-21D-A34J-08 TCGA-S9-A7R2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a5cf4b7-7bf9-4246-bb02-4490457998e8 c60fce17-9f90-426d-ac1f-8a0faa38b361 g.chr9:140040319C>T ENST00000371561.3 + 3 1632 c.535C>T c.(535-537)Cgc>Tgc p.R179C GRIN1_ENST00000371546.4_Missense_Mutation_p.R179C|GRIN1_ENST00000371555.4_Missense_Mutation_p.R179C|GRIN1_ENST00000315048.3_Missense_Mutation_p.R179C|GRIN1_ENST00000371560.3_Missense_Mutation_p.R179C|GRIN1_ENST00000371550.4_Missense_Mutation_p.R179C|GRIN1_ENST00000471122.1_3'UTR|GRIN1_ENST00000371559.4_Missense_Mutation_p.R179C|GRIN1_ENST00000350902.5_Missense_Mutation_p.R179C|GRIN1_ENST00000371553.3_Missense_Mutation_p.R179C NM_007327.3 NP_015566.1 Q05586 NMDZ1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 1 179 ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0878) OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095) L-Glutamic Acid(DB00142)|Orphenadrine(DB01173) GGCTCAGAAACGCCTGGAGAC 0.672000 4 5 0 0 1 0 0 EMB 133418 broad.mit.edu 37 5 49723994 49723994 + Missense_Mutation SNP A A T TCGA-S9-A7R2-01A-21D-A34J-08 TCGA-S9-A7R2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a5cf4b7-7bf9-4246-bb02-4490457998e8 c60fce17-9f90-426d-ac1f-8a0faa38b361 g.chr5:49723994A>T ENST00000303221.5 - 2 395 c.180T>A c.(178-180)caT>caA p.H60Q EMB_ENST00000514111.1_Missense_Mutation_p.H10Q|EMB_ENST00000508934.1_Missense_Mutation_p.H60Q|EMB_ENST00000506190.1_5'UTR NM_198449.2 NP_940851.1 Q6PCB8 EMB_HUMAN embigin 60 integral to membrane breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(2) 15 Lung SC(58;0.218) Lung NSC(810;0.0795) GTGATATGTTATGACTCTCCA 0.328000 10 46 0 0 1 0 0 PTPN14 5784 broad.mit.edu 37 1 214556732 214556732 + Missense_Mutation SNP T T A TCGA-S9-A7R2-01A-21D-A34J-08 TCGA-S9-A7R2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a5cf4b7-7bf9-4246-bb02-4490457998e8 c60fce17-9f90-426d-ac1f-8a0faa38b361 g.chr1:214556732T>A ENST00000366956.5 - 13 2660 c.2466A>T c.(2464-2466)aaA>aaT p.K822N PTPN14_ENST00000543945.1_3'UTR NM_005401.4 NP_005392.2 Q15678 PTN14_HUMAN protein tyrosine phosphatase, non-receptor type 14 822 lymphangiogenesis cytoplasm|cytoskeleton protein tyrosine phosphatase activity|receptor tyrosine kinase binding NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155) TCACAGGCTCTTTTTTGACCC 0.552000 11 74 0 0 1 0 0 CDYL2 124359 broad.mit.edu 37 16 80646694 80646694 + Silent SNP G G A TCGA-S9-A7R2-01A-21D-A34J-08 TCGA-S9-A7R2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a5cf4b7-7bf9-4246-bb02-4490457998e8 c60fce17-9f90-426d-ac1f-8a0faa38b361 g.chr16:80646694G>A ENST00000299564.8 - 5 1202 c.1047C>T c.(1045-1047)atC>atT p.I349I CDYL2_ENST00000563890.1_Silent_p.I350I|CDYL2_ENST00000562812.1_Silent_p.I350I|CDYL2_ENST00000566173.1_Silent_p.I350I NM_152342.2 NP_689555.2 Q8N8U2 CDYL2_HUMAN chromodomain protein, Y-like 2 349 nucleus catalytic activity|protein binding breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1) 21 TGGCCACCACGATAGGCTTCT 0.567000 15 54 0 0 1 0 0 FSTL1 11167 broad.mit.edu 37 3 120123741 120123741 + Silent SNP A A G TCGA-S9-A7R2-01A-21D-A34J-08 TCGA-S9-A7R2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a5cf4b7-7bf9-4246-bb02-4490457998e8 c60fce17-9f90-426d-ac1f-8a0faa38b361 g.chr3:120123741A>G ENST00000295633.3 - 7 896 c.540T>C c.(538-540)aaT>aaC p.N180N FSTL1_ENST00000424703.2_Silent_p.N145N NM_007085.4 NP_009016.1 Q12841 FSTL1_HUMAN follistatin-like 1 180 BMP signaling pathway extracellular space calcium ion binding|heparin binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(1) 20 GBM - Glioblastoma multiforme(114;0.189) ACGTTGTAATATTGATGGCAG 0.453000 24 76 0 0 1 0 0 RGS22 26166 broad.mit.edu 37 8 100990160 100990160 + Silent SNP G G A TCGA-S9-A7R2-01A-21D-A34J-08 TCGA-S9-A7R2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a5cf4b7-7bf9-4246-bb02-4490457998e8 c60fce17-9f90-426d-ac1f-8a0faa38b361 g.chr8:100990160G>A ENST00000360863.6 - 23 3698 c.3504C>T c.(3502-3504)gaC>gaT p.D1168D RGS22_ENST00000523287.1_Silent_p.D987D|RGS22_ENST00000523437.1_Silent_p.D1156D NM_015668.3 NP_056483.3 Q8NE09 RGS22_HUMAN regulator of G-protein signaling 22 1168 negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity RGS22/SYCP1(2) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 68 Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169) CAGATTTTTCGTCTTCTAGGA 0.303000 21 48 0 0 1 0 0 EGFR 1956 broad.mit.edu 37 7 55210075 55210075 + Missense_Mutation SNP T T G TCGA-S9-A7R2-01A-21D-A34J-08 TCGA-S9-A7R2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a5cf4b7-7bf9-4246-bb02-4490457998e8 c60fce17-9f90-426d-ac1f-8a0faa38b361 g.chr7:55210075T>G ENST00000275493.2 + 2 362 c.185T>G c.(184-186)cTt>cGt p.L62R EGFR_ENST00000442591.1_Missense_Mutation_p.L62R|EGFR_ENST00000342916.3_Missense_Mutation_p.L62R|EGFR_ENST00000344576.2_Missense_Mutation_p.L62R|EGFR_ENST00000454757.2_Missense_Mutation_p.L9R|EGFR_ENST00000420316.2_Missense_Mutation_p.L62R|EGFR_ENST00000455089.1_Missense_Mutation_p.L62R NM_005228.3 NP_005219.2 P00533 EGFR_HUMAN epidermal growth factor receptor 62 activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.L62R(3) NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6) 14110 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) GAGGTGGTCCTTGGGAATTTG 0.408000 8 """A, O, Mis""" """glioma, NSCLC""" NSCLC Lung Cancer, Familial Clustering of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 38 118 0 0 1 0 0 LINC00969 0 broad.mit.edu 37 3 195400728 195400728 + RNA SNP A A G rs12107841 by1000genomes TCGA-S9-A7R2-01A-21D-A34J-08 TCGA-S9-A7R2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a5cf4b7-7bf9-4246-bb02-4490457998e8 c60fce17-9f90-426d-ac1f-8a0faa38b361 g.chr3:195400728A>G ENST00000445430.1 + 0 1324 GATTGTGCCCAGCCTGTACGC 0.587000 4 69 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414346 20414346 + Silent SNP G G A TCGA-S9-A7R2-01A-21D-A34J-08 TCGA-S9-A7R2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a5cf4b7-7bf9-4246-bb02-4490457998e8 c60fce17-9f90-426d-ac1f-8a0faa38b361 g.chr9:20414346G>A ENST00000380338.4 - 5 784 c.498C>T c.(496-498)agC>agT p.S166S MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S163S|MLLT3_ENST00000475957.1_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 166 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S166S(4) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctactgctgctgctgc 0.527000 T MLL ALL 6 114 0 0 1 0 0 RP11-204M4.2 0 broad.mit.edu 37 9 41962661 41962661 + RNA SNP G G A TCGA-S9-A7R2-01A-21D-A34J-08 TCGA-S9-A7R2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a5cf4b7-7bf9-4246-bb02-4490457998e8 c60fce17-9f90-426d-ac1f-8a0faa38b361 g.chr9:41962661G>A ENST00000454645.1 - 0 843 NR_003670.1 TTTCCCCTCCGTTGTTTGTCC 0.368000 5 59 0 0 1 0 0 EPB41L2 2037 broad.mit.edu 37 6 131211445 131211445 + Missense_Mutation SNP C C T TCGA-S9-A7R2-01A-21D-A34J-08 TCGA-S9-A7R2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a5cf4b7-7bf9-4246-bb02-4490457998e8 c60fce17-9f90-426d-ac1f-8a0faa38b361 g.chr6:131211445C>T ENST00000337057.3 - 11 1830 c.1649G>A c.(1648-1650)aGt>aAt p.S550N EPB41L2_ENST00000525271.1_Missense_Mutation_p.S550N|EPB41L2_ENST00000527659.1_Missense_Mutation_p.S550N|EPB41L2_ENST00000530481.1_Missense_Mutation_p.S550N|EPB41L2_ENST00000445890.2_Missense_Mutation_p.S550N|EPB41L2_ENST00000529208.1_Missense_Mutation_p.S550N|EPB41L2_ENST00000528282.1_Missense_Mutation_p.S550N|EPB41L2_ENST00000525193.1_Missense_Mutation_p.S550N|EPB41L2_ENST00000368128.2_Missense_Mutation_p.S550N|EPB41L2_ENST00000527411.1_Missense_Mutation_p.S550N|EPB41L2_ENST00000392427.3_Missense_Mutation_p.S550N NM_001431.3 NP_001422.1 O43491 E41L2_HUMAN erythrocyte membrane protein band 4.1-like 2 550 Hydrophilic. cortical actin cytoskeleton organization extrinsic to membrane|plasma membrane|spectrin actin binding|structural molecule activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2) 44 Breast(56;0.0639) OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355) TCCATCTAGACTCCTGGAGAC 0.453000 29 137 0 0 1 0 0 OR4C6 219432 broad.mit.edu 37 11 55433374 55433374 + Silent SNP G G T TCGA-S9-A7R2-01A-21D-A34J-08 TCGA-S9-A7R2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a5cf4b7-7bf9-4246-bb02-4490457998e8 c60fce17-9f90-426d-ac1f-8a0faa38b361 g.chr11:55433374G>T ENST00000314259.3 + 1 761 c.732G>T c.(730-732)gtG>gtT p.V244V NM_001004704.1 NP_001004704.1 Q8NH72 OR4C6_HUMAN olfactory receptor, family 4, subfamily C, member 6 244 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 71 ACCTCACGGTGGTTGTATTGT 0.502000 47 133 6.23363e-37 6.90495e-37 1 1 0 PROM1 8842 broad.mit.edu 37 4 15995680 15995680 + Frame_Shift_Del DEL T T - TCGA-S9-A7R2-01A-21D-A34J-08 TCGA-S9-A7R2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a5cf4b7-7bf9-4246-bb02-4490457998e8 c60fce17-9f90-426d-ac1f-8a0faa38b361 g.chr4:15995680delT ENST00000505450.1 - 15 2282 c.1670delA c.(1669-1671)atfs p.N557fs PROM1_ENST00000540805.1_Frame_Shift_Del_p.N566fs|PROM1_ENST00000510224.1_Frame_Shift_Del_p.N566fs|PROM1_ENST00000539194.1_Frame_Shift_Del_p.N566fs|PROM1_ENST00000543373.1_Frame_Shift_Del_p.N557fs|PROM1_ENST00000508167.1_Frame_Shift_Del_p.N557fs|PROM1_ENST00000447510.2_Frame_Shift_Del_p.N566fs NM_001145848.1 NP_001139320.1 O43490 PROM1_HUMAN prominin 1 566 camera-type eye photoreceptor cell differentiation|photoreceptor cell maintenance|retina layer formation apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment membrane|plasma membrane beta-actinin binding|cadherin binding breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2) 35 AGTGCCTCTATTTTTTTTGCA 0.428 7 111 --- --- --- --- ADH1C 126 broad.mit.edu 37 4 100261040 100261041 + RNA INS - - A rs138827617 by1000genomes TCGA-S9-A7R2-01A-21D-A34J-08 TCGA-S9-A7R2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a5cf4b7-7bf9-4246-bb02-4490457998e8 c60fce17-9f90-426d-ac1f-8a0faa38b361 g.chr4:100261040_100261041insA ENST00000515683.1 - 0 1316 NM_000669.3 NP_000660.1 P00326 ADH1G_HUMAN alcohol dehydrogenase 1C (class I), gamma polypeptide ethanol oxidation|xenobiotic metabolic process cytosol alcohol dehydrogenase (NAD) activity|zinc ion binding OV - Ovarian serous cystadenocarcinoma(123;1.08e-07) Fomepizole(DB01213)|NADH(DB00157) AGTGCTTTCACAAAAAAAATCA 0.327 5 2 --- --- --- --- RRP36 88745 broad.mit.edu 37 6 42989414 42989419 + In_Frame_Del DEL GCCGGG GCCGGG - rs60664426 TCGA-S9-A7R2-01A-21D-A34J-08 TCGA-S9-A7R2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a5cf4b7-7bf9-4246-bb02-4490457998e8 c60fce17-9f90-426d-ac1f-8a0faa38b361 g.chr6:42989414_42989419delGCCGGG ENST00000244496.5 + 1 32_37 c.22_27delGCCGGG c.(22-27)del p.AG14del NM_033112.2 NP_149103.1 Q96EU6 RRP36_HUMAN ribosomal RNA processing 36 homolog (S. cerevisiae) 14 ribosomal small subunit biogenesis|rRNA processing nucleolus p.A8_G9delAG(2) NS(1)|breast(1)|central_nervous_system(1)|large_intestine(5)|lung(1)|ovary(1)|prostate(1) 11 TAACTAccgcgccggggccggggccg 0.777 4 4 --- --- --- --- TNRC18 84629 broad.mit.edu 37 7 5430008 5430011 + Frame_Shift_Del DEL AAAG AAAG - rs34840801 TCGA-S9-A7R2-01A-21D-A34J-08 TCGA-S9-A7R2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a5cf4b7-7bf9-4246-bb02-4490457998e8 c60fce17-9f90-426d-ac1f-8a0faa38b361 g.chr7:5430008_5430011delAAAG ENST00000399434.2 - 3 528_531 c.370_373delCTTT c.(370-375)ttfs p.LF124fs TNRC18_ENST00000399537.4_Intron|TNRC18_ENST00000430969.1_Intron O15417 TNC18_HUMAN trinucleotide repeat containing 18 0 DNA binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8) 11 Ovarian(82;0.142) UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15) aaaaaaaaaaaaaGCCAGCATCCT 0.544 3 6 --- --- --- --- NPIPA8 101059953 broad.mit.edu 37 16 18441114 18441116 + Splice_Site DEL CAC CAC - TCGA-S9-A7R2-01A-21D-A34J-08 TCGA-S9-A7R2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a5cf4b7-7bf9-4246-bb02-4490457998e8 c60fce17-9f90-426d-ac1f-8a0faa38b361 g.chr16:18441114_18441116delCAC ENST00000339303.5 - 1 15 c.e1+1 nuclear pore complex interacting protein family, member A8 CGGCCATACTCACCACTGGGACT 0.709 5 10 --- --- --- --- SNX29P2 0 broad.mit.edu 37 16 29269502 29269502 + RNA DEL C C - TCGA-S9-A7R2-01A-21D-A34J-08 TCGA-S9-A7R2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a5cf4b7-7bf9-4246-bb02-4490457998e8 c60fce17-9f90-426d-ac1f-8a0faa38b361 g.chr16:29269502delC ENST00000398878.3 + 0 214 ACAAGCCCTTCCCGGGCTGGA 0.577 2 4 --- --- --- --- CTB-58E17.3 0 broad.mit.edu 37 17 36861701 36861703 + RNA DEL GAG GAG - TCGA-S9-A7R2-01A-21D-A34J-08 TCGA-S9-A7R2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a5cf4b7-7bf9-4246-bb02-4490457998e8 c60fce17-9f90-426d-ac1f-8a0faa38b361 g.chr17:36861701_36861703delGAG ENST00000583409.1 - 0 208 CAGAGCGAGCgaggaggaggagg 0.734 2 4 --- --- --- ---